Types of Genetic Disorders

6-pyruvoyl-tetrahydropterin-synthase deficiency (PTPS) results in high levels of an amino acid called phenylalanine (hyperphenylalaninemia). Individuals with PTPS

Abetalipoproteinemia is an inherited disorder characterized by the inability to absorb fats and certain vitamins.

Adenosine deaminase (ADA) deficiency is an inherited disorder that leads to severe combined immunodeficiency (SCID), damaging the

Alpha thalassemia is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues by affecting hemoglobin, a protein in red blood cells.

Alpha-mannosidosis, a rare inherited disorder, affects multiple organs and tissues in the body. Individuals with this condition

Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing impairment, and eye abnormalities. Alport

Alstrom syndrome is an inherited condition affecting fat cells and cilia, exhibiting varying severity of symptoms even

Andermann syndrome is an inherited disorder that leads to progressive nervous system damage. Andermann syndrome presents early

Argininemia is classified as one of the urea cycle disorders, where individuals lack the vital enzyme arginase,

Argininosuccinic aciduria is classified as a urea cycle disorder resulting from the deficiency of the enzyme argininosuccinate

Asparagine synthetase deficiency is a severe neurological disorder Symptoms begin during pregnancy or at birth and include

Aspartylglucosaminuria (AGU) leads to a deficiency of the aspartylglucosaminidase enzyme. This deficiency hinders the breakdown of glycoasparagines,

Ataxia-telangiectasia (A-T) is an inherited condition that affects the coordination of movement (ataxia), weakens the immune system,

Ataxia with vitamin E deficiency (AVED) leads to the progressive degeneration of the nervous system, resulting in

ATP7A-related disorders are a spectrum of diseases that result from improper regulation of copper in the body.

Autoimmune polyglandular syndrome type 1 (APS1) is an inherited disease leading to the immune system attacking healthy

Autosomal recessive osteopetrosis type 1 (ARO1) is a hereditary disorder characterized by abnormal bone development, often noticeable

Autosomal recessive polycystic kidney disease (ARPKD) leads to fluid-filled cysts clustering in the kidneys, potentially causing kidney

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited disorder that impacts the body's sacsin protein

Bardet-Biedl Syndrome (BBS) is a syndrome that gives rise to a spectrum of effects, encompassing visual impairments,

Bardet-Biedl syndrome (BBS2-related) is an inherited disorder that affects many different parts of the body.

The BCS1L gene can cause several different disorders including GRACILE syndrome, complex III deficiency, and Bjornstad syndrome.

Beta thalassemia is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues by affecting hemoglobin, a protein in red blood cells.

Biotinidase deficiency is an inherited ailment where the body struggles to process biotin (vitamin B7) due to

Bloom syndrome is an inherited genetic disorder that causes short stature, skin rash and an increased risk of cancer.

Canavan disease is a progressive neurological disorder that destroys the myelin sheath, which insulates nerve cells in the brain.

Carbamoylphosphate synthetase I (CPS1) deficiency is a member of the urea cycle disorders group, characterized by the

Carnitine palmitoyltransferase IA (CPT1A) deficiency hinders the body's ability to convert long-chain fatty acids into energy for

Carnitine palmitoyltransferase II deficiency is a metabolic disorder that prevents the body from breaking down certain fats to use them for energy.

Carnitine palmitoyltransferase II (CPT II) deficiency impairs the body's ability to convert long-chain fatty acids into energy

Cartilage-hair hypoplasia (CHH) primarily affects bone growth leading to short stature and various skeletal abnormalities. CHH individuals

Cerebrotendinous xanthomatosis (CTX) is a condition characterized by abnormal fat accumulation, including cholesterol, within the body. Key

CFTR-related conditions, including cystic fibrosis, are a group of disorders that cause the production of abnormally thick and sticky mucus in the lungs and digestive system.

Choreoacanthocytosis is a rare neurological disorder primarily impacting the nervous system, resulting in abnormal movements, cognitive difficulties,

Choroideremia is a condition that causes gradual vision loss, primarily in males. The first sign is usually

Citrullinemia type 1 is an inherited disorder that is characterized by an accumulation of ammonia in the blood stream.

Cockayne syndrome are genetic conditions marked by severe growth delay, small head size, developmental delays, and intellectual

Cohen syndrome is an inherited disorder impacting motor skills, mental development, and behavior. Infants with this condition

Combined pituitary hormone deficiency (CPHD), specifically PROP1-related CPHD, is an inherited condition that leads to hormone shortages

11-beta-hydroxylase-deficient congenital adrenal hyperplasia (11b-OHD CAH) impacts the production of important hormones that leads to excess production

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which regulate hormone

Congenital amegakaryocytic thrombocytopenia (CAMT) is a disorder characterized by reduced platelet levels and the absence or reduction

Congenital disorder of glycosylation (CDG) MPI-related is an inherited metabolic condition that disrupts the production of glycoproteins

Congenital disorder of glycosylation type Ia is a congenital disorder that interferes with sugars correctly attaching to proteins in the body.

Congenital disorders of glycosylation (CDG) encompass a group of conditions affecting glycosylation, a critical process diversifying protein

TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a skin condition caused by a problem in how proteins

Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by an absence of pain

Congenital nephrotic syndrome type 1 is an inherited condition that causes the kidneys to leak excess protein into the urine.

Congenital nephrotic syndrome type 2 is an inherited condition where the kidneys are unable to filter waste products from the blood correctly, which causes the kidneys to leak excess protein into the urine.

Corticosterone methyloxidase deficiency is a disorder characterized by the kidneys' inability to effectively absorb salt. Corticosterone methyloxidase

Costeff optic atrophy syndrome (3-methylglutaconic aciduria type 3 (3-MGCA 3)) is a condition that causes individuals to

CYBA-related chronic granulomatous disease is a condition causing immunodeficiency, preventing white blood cells from effectively eliminating bacteria

Cystinosis is a disorder leading to the accumulation of cysteine, forming crystals within body cells, particularly damaging

D-bifunctional protein deficiency, a peroxisomal fatty acid oxidation disorder leads to severe biochemical abnormalities. Infants with this

Dihydrolipoamide dehydrogenase deficiency is an inherited metabolic condition that is most often characterized by early-onset lactic acidosis (excess lactic acid in the body) and delayed development.

Dihydropyrimidine dehydrogenase deficiency is a condition that varies widely in its impact. Some individuals experience neurological issues,

Dystrophinopathies cause muscle weakness, predominantly in males, although 20% of females may also exhibit mild symptoms. Pathogenic

Dysferlinopathy encompasses a range of disorders causing muscle weakness due to a deficiency in the dysferlin protein.

Dystrophic epidermolysis bullosa is an inherited disorder affecting the skin and causing it to break down. Symptoms include

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by defects in the protein collagen.

Ellis-van Creveld syndrome (EVC) is an inherited disorder affecting cartilage formation, leading to distinct physical characteristics. Affected

Fabry disease is a lysosomal storage disorder caused by a deficiency of the alpha-galactosidase A enzyme, primarily

Factor XI deficiency is a disorder characterized by mild but potentially uncontrolled bleeding. This bleeding becomes more

Familial dysautonomia is a disorder that causes that causes the body’s nerve cells to deteriorate, affecting involuntary actions like breathing, tear production, blood pressure, and body temperature.

ABCC8-related conditions include familial hyperinsulinism (FHI), permanent neonatal diabetes mellitus, and maturity- onset diabetes of the young.

Familial hyperinsulinism is a disorder characterized by disrupted insulin response, where the pancreas secretes insulin even without

Familial Mediterranean fever (FMF) is a treatable condition that causes recurrent episodes of pain and fever due to uncontrolled inflammation.

Fanconi anemia comprises inherited disorders where the body fails to produce a crucial DNA-protecting protein, leading to

Fanconi anemia type C is an inherited condition in which the body cannot properly produce a protein that protects the DNA from damage.

Mutations in the FKRP gene lead to a range of disorders collectively known as limb-girdle muscular dystrophy-dystroglycanopathy,

Muscular dystrophy-dystroglycanopathy (FKTN-related) is a disorder that causes proteins to develop abnormally.

Fragile X syndrome (FXS) is an inherited condition that causes varying degrees of intellectual disability, autism, and developmental and behavioral problems.

Free sialic acid storage disorders belong to lysosomal storage disorders affecting the nervous system. There are three

Fumarate hydratase deficiency is an inherited disorder that causes an alteration of the brain structure.

Galactokinase deficiency, or galactosemia type II, is a disease that impairs the body's ability to metabolize galactose,

Galactosemia is a disorder that causes the body to be unable to process a sugar commonly found in milk and dairy products.

Gaucher disease is a metabolic disorder in which the body lacks an enzyme needed to break down a fatty substance called glucocerebroside.

GBE1-related disorders are a group of conditions caused by a deficiency in the glycogen branching enzyme (GBE),

GJB2-related conditions are a group of conditions that cause mild to severe hearing loss from birth.

GLB1-related conditions including GM1-gangliosidosis and mucopolysaccharidosis type IVB (MPSIVB) are two distinct lysosomal storage disorders caused by

Glucose-6-phosphate dehyrdogenase deficiency (G6PD) is a condition causing periodic fatigue and illness due to the destruction of

Glutaric acidemias are a group of disorders where a substance called glutaric acid builds up in urine.

Glycine encephalopathy is a disorder that disrupts glycine metabolism, leading to glycine accumulation in various body tissues,

Glycogen storage disease Ia is a metabolic disorder that causes a buildup of sugar called glycogen in the body’s cells.

Glycogen Storage Disease Type Ib, also known as von Gierke disease, is a genetic condition where the

Glycogen Storage Disease Type III is a genetic condition where the body lacks an enzyme called glycogen

Glycogen Storage Disease Type V is a genetic disorder where the body lacks an enzyme called myophosphorylase.

Glycogen Storage Disease Type VII, or GSD VII, is a genetic disorder where the body cannot break

Mucolipidosis II and III alpha/beta are genetic disorders caused by mutations in the GNPTAB gene. These conditions

HADHA-related disorders occur when the body lacks an enzyme called mitochondrial trifunctional protein, crucial for breaking down

Hb beta chain-related hemoglobinopathies are inherited blood disorders affecting hemoglobin, vital for carrying oxygen in red blood

Hereditary fructose intolerance is an inherited metabolic condition that affects a person’s ability to digest a sugar called fructose.

Herlitz junctional epidermolysis bullosa (H-JEB) is a disorder causing severe skin blistering, both on the surface and

Hermansky-Pudlak syndrome type 3 (HPS3) is a condition where people have lighter skin, hair, and eyes than

HMG-CoA lyase deficiency is a condition where the body lacks an enzyme needed to break down a

Holocarboxylase synthetase deficiency is a disorder that affects how the body uses the vitamin biotin. If not

Homocystinuria is a condition that leads to high levels of homocysteine in the body. This happens because

Homocystinuria caused by MTHFR deficiency, or severe MTHFR deficiency, is a condition that reduces the amount of

Hydrolethalus syndrome is a serious disorder that affects how a baby's face, limbs, heart, and other vital

Hypophosphatasia (HPP) is a disorder that affects how the body deposits minerals like calcium and phosphorus into

Isovaleric Acidemia (IVA) is a disorder caused by a problem with an enzyme that breaks down a

People with Joubert syndrome 2 (JBTS2) face challenges such as delayed development, difficulty moving their muscles, involuntary

Junctional Epidermolysis Bullosa (JEB) is a disorder that causes severe blistering on the skin. There are two

Krabbe disease is a disorder that affects the nervous system. It falls under a group of diseases

Leigh syndrome, specifically the French-Canadian type (LSFC), is a genetic disorder impacts specific parts of the brain

Limb-girdle muscular dystrophy type 2A (LGMD2A), also known as calpainopathy encompasses a range of disorders characterized by

Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C), also known as gamma-sarcoglycanopathy, comprises a range of disorders causing muscle

Limb-girdle muscular dystrophy type 2D is an inherited disorder that causes weakness of the arm and leg muscles.

Limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy is a muscle-weakening condition resulting from a

Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) (also called delta-sarcoglycanopathy) encompasses a range of disorders caused by a

Lipoid congenital adrenal hyperplasia (LCAH) is a severe type of congenital adrenal hyperplasia, that impacts the bodies

LOXHD1-related DFNB77 hearing loss and deafness is a condition that leads to moderate to severe hearing loss,

Lysosomal acid lipase (LAL) deficiency is a disorder that affects how the body processes fats. People with

Maple Syrup Urine Disease (MSUD) is a genetic disorder where the body can't break down certain amino

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, often during periods without food.

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a disease causing seizures and developmental delay in infants, later

Metachromatic Leukodystrophy (MLD) is a nervous system disorder affecting the myelin sheath that protects nerve cells. The

Methylmalonic acidemia is an inherited metabolic disorder in which the body cannot process certain proteins and fats properly, leading to a buildup of toxic substances in the body and metabolic crises.

Methylmalonic aciduria and homocystinuria, cblC type is a metabolic disorder that affects how the body processes a

Mitochondrial complex I deficiency affects how the cell makes energy in a part of the cell called

Mitochondrial neurogastrointestinal encephalopathy disease, or MNGIE, is a condition that impacts various parts of the body, such

Mutations in the MKS1 gene can lead to two different inherited syndromes. One of them is Meckel-Gruber

Mucolipidosis III gamma is a disorder that occurs when people are missing an enzyme called GlcNAc-1-phosphotransferase, which

Mucolipidosis type IV is an inherited metabolic disorder characterized by delayed development and vision impairment that tends

Mucopolysaccharidosis Type I (MPS I) is a genetic condition where the body lacks an enzyme called alpha-L-iduronidase

Mucopolysaccharidosis Type II (MPS II) mainly affects boys and is a type of lysosomal storage disorder. MPS

Mucopolysaccharidosis type III (MPS III) is a group of inherited disorders where the body has trouble breaking

Multiple sulfatase deficiency (MSD) is a condition that affects different parts of the body, including the brain,

LAMA2-related muscular dystrophy is a genetic disorder that weakens and wastes the muscles in the body.  There

MYO7A-related disorders are a group of conditions linked to hearing loss, with or without vision loss. These

GNE myopathy is a genetic disease that affects a specific enzyme important for making sialic acid, a

Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) is a disorder where the body faces muscle weakness,

Nemaline myopathy 2 is an inherited skeletal muscle disorder that causes severe muscle weakness, hypotonia, and reduced or absent reflexes.

NPHS-1 related nephrotic syndrome is a condition where the kidneys release proteins into the urine because of

NPHS2-related nephrotic syndrome seriously affects how the kidneys work, sometimes leading to kidney failure. This type of

CLN3-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN3 gene, leading

CLN5-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN5 gene, leading

CLN6-related neuronal ceroid lipofuscinosis (NCL6) is an inherited disorder known for its brain degeneration, leading to a

CLN8-related neuronal ceroid lipofuscinosis (NCL8) is an inherited disorder marked by brain degeneration, leading to a progressive

PPT1-related neuronal ceroid lipofuscinosis (NCL) is a disorder that leads to the degeneration of the brain, causing

TPP1-related neuronal ceroid lipofuscinosis (NCL) is a disorder that leads to the degeneration of the brain, causing

SMPD1-related Niemann-Pick disease (NPD)  is a condition where the body struggles to break down a fatty substance

Niemann-Pick disease type C is a condition that makes it hard for the body to handle cholesterol

Niemann-Pick disease type C (NPC1-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.

Niemann-Pick disease type C (NPC2-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.

Niemann-Pick disease types A and B are inherited disorders that can affect many different body systems. Symptoms

Nijmegen breakage syndrome (NBS), causes people to get cancer early on and often have frequent lung and

Nonsyndromic deafness (LOXHD1-related) is an inherited disorder that causes a partial or total loss of hearing that is not associated with any other symptoms.

Normophosphatemic familial tumoral calcinosis (NFTC) is one type of familial tumoral calcinosis (FTC), where hard calcium growths

NR2E3-related disorders are a group of eye conditions that affect the retina, the part of the eye

Ornithine aminotransferase (OAT) deficiency is a condition caused by not having enough of the OAT enzyme, leading

Ornithine transcarbamylase (OTC) deficiency is a metabolic disorder caused by issues in the urea cycle, a process

PCDH15-related disorders are a group of conditions linked to hearing loss, with or without vision loss. These

Pendred syndrome is a condition where the body has difficulty making a protein called pendrin. Pendrin is

Peroxisome biogenesis disorders (PBD) are  illnesses that affects the formation of peroxisomes, a part of the body's

Phenylalanine hydroxylase deficiency (PHD) is a treatable metabolic disorder in which the body cannot properly break down the amino acid phenylalanine, a building block of protein.

Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) is a genetic condition where the body can't make a specific enzyme,

Polycystic kidney disease (PKHD1-related) is a condition that causes fluid filled sacs to develop on the kidneys.

POMGNT1-related disorders, a group of muscular dystrophy-dystroglycanopathies (MDDG) vary in severity and impact several different parts of

Pompe disease is a metabolic disorder that prevents the body from properly breaking down glycogen, a substance that helps provide the body with energy.

Pontocerebellar hypoplasia is a group of related brain development conditions that affect the pons and cerebellum, vital

Postnatal progressive microcephaly with seizures and brain atrophy is a condition linked to a small head size

Primary carnitine deficiency is a condition where the body can't properly turn fats into energy. This happens

Primary ciliary dyskinesia is an inherited genetic condition that causes abnormal cilia and flagella on cells, which prevents the clearance of mucous from the lungs, sinuses, and middle ears.

Primary ciliary dyskinesia (PCD) is a hereditary condition characterized by abnormal cilia, tiny hair-like structures on certain

Primary hyperoxaluria type 3 is a genetic disorder that causes the body to produce too much oxalate, which combines with calcium to form kidney stones.

Primary hyperoxaluria is a rare condition where people get kidney and bladder stones over and over again.

Propionic acidemia is a condition that occurs when your body lacks an enzyme called propionyl-CoA carboxylase. This

Pseudocholinesterase deficiency happens when people don't have enough of an enzyme called pseudocholinesterase. This enzyme is important

Pycnodysostosis is a rare disorder that makes  bones denser than usual, and people with this condition are

Pyruvate carboxylase deficiency is a genetic issue where the body lacks a needed enzyme, causing a buildup

RAG2-related disorders are a set of conditions causing severe combined immunodeficiency (SCID), a problem in the immune

RAPSN-related disorders are conditions that interrupt the usual communication between nerve cells and muscles. When there are

Refsum disease is a genetic condition caused by an enzyme in our cells, called the peroxisome, not

Renal tubular acidosis (RTA) with deafness is a genetic condition that brings both kidney issues and hearing

Retinitis pigmentosa 25 is a retinal dystrophy that causes progressive vision loss.

Retinitis pigmentosa type 25 (RP25) is one form of a group of inherited eye disorders known as

Retinitis pigmentosa type 26 (RP26) is one type of inherited eye disorders known as retinitis pigmentosa, causing

Retinitis pigmentosa type 28 (RP28) is one of several types of retinitis pigmentosa, a group of inherited

Retinitis pigmentosa type 59 (RP59) is one of several types of retinitis pigmentosa, a group of inherited

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a disorder that affects the size of the body, bones,

RPE65-related disorders are conditions that impact the retina of the eye, leading to severe vision loss or

The RTEL1 gene is linked to two disorders called Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita. These inherited conditions

Sandhoff disease is a disorder caused by a lack of two important enzymes, hexosaminidase A and hexosaminidase

Sickle cell disease is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues.

Sjogren-Larsson Syndrome (SLS) is a condition that happens when the body can't properly break down certain fatty

Sulfate transporter-related osteochondrodysplasias are a group of diseases impacting how the body makes cartilage and bones. These

Smith-Lemli-Opitz syndrome (SLO) is an inherited condition that impairs the body’s ability to make cholesterol correctly.

Hereditary spastic paraplegias are a group of disorders that make muscles in the lower limbs stiff and

Spastic paraplegia type 49 is an inherited genetic disorder characterized by progressive muscle stiffness (spasticity) along with

Spinal muscular atrophy (SMA) is a condition that causes progressive weakness and wasting (atrophy) in the skeletal muscles, which are used for movement.

Spondylothoracic dysostosis (STD) is a condition that affects the bones in the spine and ribs. People with

Tay Sachs is a disorder that causes gradual loss of movement and mental function.

Transient infantile liver failure (LFIT) is a condition that affects the liver due to a reduced amount

Tyrosine hydroxylase deficiency (THD) is a disorder affecting movement, causing uncontrollable muscle contractions, and leading to developmental

Tyrosinemia type I is a disorder that affects how the body breaks down an amino acid called

Tyrosinemia type II (TYRII) is a disorder related to amino acids that leads to reduced production of

USH1C-related disorders are a group of conditions linked to hearing loss, with or without vision loss. These

USH2A-related disorders are a group of inherited conditions that are associated with progressive vision loss in adolescence or early adulthood with or without hearing loss from birth.

Usher syndrome type 3 is a condition that leads to a gradual loss of hearing and vision.

Very-Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder in which the body doesn't make enough of an

VSX2-related microphthalmia, anophthalmia, and coloboma is a  condition where the eyeball is smaller than usual (microphthalmia) or

Wilson Disease is an inherited disorder that causes copper to accumulate in body tissues, especially in the liver, brain, and eyes.

WNT10A-related conditions are a group of conditions that cause abnormal development of the skin, hair nails, teeth, and sweat glands.

X-linked adrenoleukodystrophy (X-ALD) is a condition that mainly affects the nervous system and adrenal glands. It's more

X-linked congenital adrenal hypoplasia (XLCAH) is a condition that impacts the adrenal glands, found above the kidneys,

X-linked juvenile retinoschisis is an eye disorder that runs in families and makes the inner part of

X-linked myotubular myopathy (MTMX) is a rare disorder that is part of a group of disorders called

X-linked severe combined immunodeficiency (X-SCID) is a disorder that affects the immune system, leading to frequent and

X-linked severe combined immunodeficiency (X-SCID) is an inherited condition of the immune system that causes recurrent and persistent infections, particularly in males.

Xeroderma pigmentosum (XP) is a condition you inherit that makes your skin and eyes extremely sensitive to