Genetic disorder

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Genetic disorder
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Varies widely depending on the specific disorder
Complications	Developmental delay, intellectual disability, physical disability, chronic illness
Onset	Congenital or later in life
Duration	Lifelong
Types	N/A
Causes	Genetic mutation, chromosomal abnormality
Risks	Family history, consanguinity, advanced parental age
Diagnosis	Genetic testing, prenatal screening, newborn screening
Differential diagnosis	Acquired disorder
Prevention	Genetic counseling, preimplantation genetic diagnosis
Treatment	Symptomatic treatment, gene therapy, enzyme replacement therapy
Medication	N/A
Prognosis	Varies widely
Frequency	Varies by specific disorder
Deaths	N/A

Autosomal Recessive Inheritance for Affected Enzyme

Human Karyotype with Bands and Sub-bands

Down Syndrome Karyotype

Personal Genomics Gene Therapy Flowchart

A genetic disorder refers to a condition that is caused in part or in whole by changes, or mutations, in the DNA sequence of a specific gene or set of genes. These genetic changes can be inherited from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and function of the body, and abnormalities can result in a wide range of health problems.

Types of Genetic Disorders

Genetic disorders are classified into four primary categories based on the way they are inherited:

• Single-gene disorders: These are caused by mutations in a single gene. Examples include sickle cell disease, cystic fibrosis, and Huntington's disease.
• Chromosomal disorders: These occur when chromosomes, or parts of chromosomes, are missing or changed. Examples include Down syndrome, Turner syndrome, and Klinefelter syndrome.
• Multifactorial disorders: These disorders are caused by a combination of genetic and environmental factors. Examples include heart disease, diabetes, and cancer.
• Mitochondrial disorders: These rare disorders are caused by mutations in the non-chromosomal DNA of mitochondria. Examples include Leber's hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

Diagnosis and Treatment

Genetic disorders can be diagnosed through genetic testing, which includes methods such as gene sequencing and chromosomal analysis. Prenatal testing is available for some genetic disorders to identify risks in unborn children. Treatment varies widely depending on the specific disorder and its severity. Some genetic disorders can be managed with medication or dietary modification, while others may require surgery or physical therapy. Genetic counselling is often recommended for families affected by genetic disorders to understand the risk of recurrence in future pregnancies.

Future Perspectives

Advancements in the field of genetics and genomics, including gene therapy and CRISPR gene-editing technologies, offer potential for future treatments and possibly cures for some genetic disorders.

List of genetic diseases

• 17β-Hydroxysteroid dehydrogenase III deficiency
• 2-Hydroxyglutaric aciduria
• 2-Methylbutyryl-CoA dehydrogenase deficiency
• 3-Methylcrotonyl-CoA carboxylase deficiency
• 3C syndrome
• 6-Pyruvoyltetrahydropterin synthase deficiency
• ALG1-CDG
• ALOX12B
• Abdallat–Davis–Farrage syndrome
• Abderhalden–Kaufmann–Lignac syndrome
• Abetalipoproteinemia
• Ablepharon macrostomia syndrome
• Acatalasia
• Aceruloplasminemia
• Acheiropodia
• Acrocallosal syndrome
• Acrodermatitis enteropathica
• Acropectoral syndrome
• Acute fatty liver of pregnancy
• Acute intermittent porphyria
• Acyl-CoA oxidase deficiency
• Adducted thumb syndrome
• Adenine phosphoribosyltransferase deficiency
• Adenosine deaminase 2 deficiency
• Adenosine deaminase deficiency
• Adenylosuccinate lyase deficiency
• Adermatoglyphia
• Adrenoleukodystrophy
• Aicardi syndrome
• Al-Raqad syndrome
• Albinism in humans
• Albright's hereditary osteodystrophy
• Aldolase A deficiency
• Aldred syndrome
• Alkaptonuria
• Alpha-aminoadipic and alpha-ketoadipic aciduria
• Alpha-mannosidosis
• Alwadei Syndrome
• Aminoacylase 1 deficiency
• Aminolevulinic acid dehydratase deficiency porphyria
• Antley–Bixler syndrome
• Apparent mineralocorticoid excess syndrome
• Arakawa's syndrome II
• Arginine:glycine amidinotransferase deficiency
• Argininemia
• Argininosuccinic aciduria
• Aromatase excess syndrome
• Arterial calcification due to CD73 deficiency
• Arterial tortuosity syndrome
• Aspartylglucosaminuria
• Atelosteogenesis, type II
• Atransferrinemia
• Autosomal dominant cerebellar ataxia
• Autosomal recessive multiple epiphyseal dysplasia
• Axenfeld–Rieger syndrome
• Bainbridge-Ropers Syndrome
• Baller–Gerold syndrome
• Barber–Say syndrome
• Bare lymphocyte syndrome
• Bare lymphocyte syndrome type II
• Batten disease
• Bazex–Dupré–Christol syndrome
• Becker muscular dystrophy
• Behr syndrome
• Benign hereditary chorea
• Berdon syndrome
• Bernard–Soulier syndrome
• Beta-ketothiolase deficiency
• Beta-mannosidosis
• Bethlem myopathy
• Bietti's crystalline dystrophy
• Biotinidase deficiency
• Birt–Hogg–Dubé syndrome
• Bloom syndrome
• Blue diaper syndrome
• Boomerang dysplasia
• Bosch-Boonstra-Schaaf optic atrophy syndrome
• Branchio-oto-renal syndrome
• Buschke–Ollendorff syndrome
• CAMFAK syndrome
• CANDLE syndrome
• CHILD syndrome
• Calpainopathy
• Camurati–Engelmann disease
• Canavan disease
• Carbamoyl phosphate synthetase I deficiency
• Carey Fineman Ziter syndrome
• Carnitine palmitoyltransferase I deficiency
• Carnitine palmitoyltransferase II deficiency
• Carnitine-acylcarnitine translocase deficiency
• Carnosinemia
• Carpenter syndrome
• Cartilage–hair hypoplasia
• Caspase-8 deficiency
• Cenani–Lenz syndactylism
• Central core disease
• Cerebrotendineous xanthomatosis
• Chondrodystrophy
• Chorea acanthocytosis
• Chronic progressive external ophthalmoplegia
• Chronic progressive external ophthalmoplegia
• Chédiak–Higashi syndrome
• Citrullinemia
• Cockayne syndrome
• Coenzyme Q10 deficiency
• Cohen-Gibson syndrome
• Collagen disease
• Collagenopathy, types II and XI
• Color blindness
• Compound heterozygosity
• Congenital adrenal hyperplasia
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Congenital disorder of glycosylation type IIc
• Congenital distal spinal muscular atrophy
• Congenital hepatic fibrosis
• Congenital hypofibrinogenemia
• Congenital ichthyosiform erythroderma
• Congenital insensitivity to pain with anhidrosis
• Congenital stromal corneal dystrophy
• Corneal-cerebellar syndrome
• Costello syndrome
• Cranio-lenticulo-sutural dysplasia
• Craniodiaphyseal dysplasia
• Craniofrontonasal dysplasia
• Creatine transporter defect
• Currarino syndrome
• Cystathioninuria
• Cystic fibrosis
• Cystinosis
• Cystinuria
• D-glycerate dehydrogenase deficiency
• DOOR syndrome
• Darier's disease
• De Barsy syndrome
• Dentatorubral–pallidoluysian atrophy
• Dermatopathia pigmentosa reticularis
• DiGeorge syndrome
• Diabetes and deafness
• Diastrophic dysplasia
• Dicarboxylic aminoaciduria
• Dihydropyrimidine dehydrogenase deficiency
• Distal spinal muscular atrophy type 1
• Dominance (genetics)
• Donohue syndrome
• Dopamine beta hydroxylase deficiency
• Dubin–Johnson syndrome
• Dubowitz syndrome
• Duchenne muscular dystrophy
• Dysfibrinogenemia
• EAST syndrome
• EEM syndrome
• Ellis–van Creveld syndrome
• Emberger syndrome
• Enamel-renal syndrome
• Endocardial fibroelastosis
• Endocardial fibroelastosis
• Essential fructosuria
• Ethylmalonic encephalopathy
• FG syndrome
• FG syndrome
• Fabry disease
• Familial Mediterranean fever
• Familial amyloid polyneuropathy
• Familial atrial fibrillation
• Familial dysautonomia
• Familial hypercholesterolemia
• Familial isolated vitamin E deficiency
• Familial male-limited precocious puberty
• Fanconi anemia
• Farber disease
• Fatty-acid metabolism disorder
• Feingold syndrome
• Felty's syndrome
• Fibrochondrogenesis
• Finnish heritage disease
• Flynn–Aird syndrome
• Focal dermal hypoplasia
• Follicle-stimulating hormone insensitivity
• Fountain syndrome
• Fragile X syndrome
• Fraser syndrome
• Friedreich's ataxia
• Friedreich's ataxia
• Fucosidosis
• Fumarase deficiency
• GAPO syndrome
• GATA2 deficiency
• GFER Syndrome
• GLUT1 deficiency
• GM1 gangliosidoses
• GM2 gangliosidoses
• GM2-gangliosidosis, AB variant
• Galactokinase deficiency
• Galactose epimerase deficiency
• Galactose-1-phosphate uridylyltransferase deficiency
• Galactosialidosis
• Galloway Mowat syndrome
• Gangliosidosis
• Gardner's syndrome
• Gastroschisis
• Gaucher's disease
• Generalized arterial calcification of infancy
• Gerodermia osteodysplastica
• Giant axonal neuropathy
• Gillespie syndrome
• Gillespie syndrome
• Gitelman syndrome
• Glanzmann's thrombasthenia
• Glucose-galactose malabsorption
• Glutaric acidemia type 2
• Glutaric aciduria type 1
• Glutathione synthetase deficiency
• Glycine encephalopathy
• Glycogen storage disease type I
• Glycogen storage disease type II
• Glycogen storage disease type III
• Glycogen storage disease type V
• Gonadotropin-releasing hormone insensitivity
• Gray platelet syndrome
• Greig cephalopolysyndactyly syndrome
• Griscelli syndrome
• Guanidinoacetate methyltransferase deficiency
• Gunther disease
• H syndrome
• HUPRA syndrome
• Haemophilia
• Haemophilia A
• Haemophilia B
• Hagemoser–Weinstein–Bresnick syndrome
• Hajdu–Cheney syndrome
• Haploinsufficiency of A20
• Harding ataxia
• Harlequin-type ichthyosis
• Hartnup disease
• Hawkinsinuria
• Hay–Wells syndrome
• Heimler syndrome
• Helsmoortel-Van der Aa syndrome
• Hemophagocytic lymphohistiocytosis
• Hereditary elliptocytosis
• Hereditary folate malabsorption
• Hereditary hemorrhagic telangiectasia
• Hereditary mucoepithelial dysplasia
• Hereditary pyropoikilocytosis
• Hereditary spherocytosis
• Hermansky–Pudlak syndrome
• Histidinemia
• Holocarboxylase synthetase deficiency
• Holt–Oram syndrome
• Homocystinuria
• Hoyeraal-Hreidarsson syndrome
• Huntington's disease
• Huntington's disease-like syndrome
• Hurler syndrome
• Hyperinsulinism-hyperammonemia syndrome
• Hyperlysinemia
• Hypermethioninemia
• Hyperprolinemia
• Hypertrophic cardiomyopathy
• Hypertryptophanemia
• Hypervalinemia
• Hypoalphalipoproteinemia
• Hypochondroplasia
• Hypodysfibrinogenemia
• Hypomagnesemia with secondary hypocalcemia
• Hypotransferrinemia
• Imerslund–Gr√§sbeck syndrome
• Iminoglycinuria
• Immunodeficiency–centromeric instability–facial anomalies syndrome
• Impossible syndrome
• Incontinentia pigmenti
• Infantile Refsum disease
• Infantile free sialic acid storage disease
• Infantile neuroaxonal dystrophy
• Infantile systemic hyalinosis
• Isobutyryl-coenzyme A dehydrogenase deficiency
• Isolated 17,20-lyase deficiency
• Isovaleric acidemia
• Jackson–Weiss syndrome
• Jalili syndrome
• Jansky–Bielschowsky disease
• Jervell and Lange-Nielsen syndrome
• Johanson–Blizzard syndrome
• Juberg-Hayward syndrome
• Juberg-Hayward syndrome
• Juvenile primary lateral sclerosis
• Kapur–Toriello syndrome
• Kaufman oculocerebrofacial syndrome
• Kearns–Sayre syndrome
• Keratoendotheliitis fugax hereditaria
• Keratolytic winter erythema
• Keutel syndrome
• Kindler syndrome
• Kniest dysplasia
• Kohlschütter-Tönz syndrome
• Krabbe disease
• Kufor–Rakeb syndrome
• L1 syndrome
• LPS-responsive beige-like anchor protein deficiency
• Lafora disease
• Lamellar ichthyosis
• Langer–Giedion syndrome
• Laron syndrome
• Larsen syndrome
• Late onset congenital adrenal hyperplasia
• Laurence–Moon syndrome
• Leber's hereditary optic neuropathy
• Lecithin cholesterol acyltransferase deficiency
• Leigh syndrome
• Lethal congenital contracture syndrome
• Letterer–Siwe disease
• Leucine-sensitive hypoglycemia of infancy
• Leukocyte adhesion deficiency
• Leukocyte adhesion deficiency-1
• Leydig cell hypoplasia
• Liddle's syndrome
• Lipoid congenital adrenal hyperplasia
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Lucey–Driscoll syndrome
• Lujan–Fryns syndrome
• Lysinuric protein intolerance
• Lysosomal acid lipase deficiency
• Lysosomal storage disease
• Lysosomal storage disease
• MASA syndrome
• MELAS syndrome
• MERRF syndrome
• MOMO syndrome
• MORM syndrome
• MPI-CDG
• MUTYH-associated polyposis
• Mahvash disease
• Malonyl-CoA decarboxylase deficiency
• Malpuech facial clefting syndrome
• Management of thalassemia
• Maple syrup urine disease
• Marden–Walker syndrome
• Marfan syndrome
• Marshall syndrome
• May–White syndrome
• McLeod syndrome
• Meckel–Gruber syndrome
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Medullary cystic kidney disease
• Meleda disease
• Menke-Hennekam syndrome
• Menkes disease
• Metachondromatosis
• Metachromatic leukodystrophy
• Methemoglobinemia
• Methylmalonic acidemia
• Mevalonate kinase deficiency
• Michels syndrome
• Microspherophakia
• Microvillous inclusion disease
• Miller–Dieker syndrome
• Mismatch repair cancer syndrome
• Mitochondrial DNA depletion syndrome
• Mitochondrial DNA depletion syndrome
• Mitochondrial complex II deficiency
• Mitochondrial complex II deficiency
• Mitochondrial disease
• Mitochondrial myopathy
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Mitochondrial neurogastrointestinal encephalopathy syndrome
• Mitochondrial replacement therapy
• Mitochondrial trifunctional protein deficiency
• Monilethrix
• MonoMAC
• Morquio syndrome
• Mucolipidosis
• Mucolipidosis type IV
• Mucopolysaccharidosis
• Mucopolysaccharidosis type I
• Mulibrey nanism
• Multiple endocrine neoplasia
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2
• Multiple endocrine neoplasia type 2B
• Multiple sulfatase deficiency
• Myelokathexis
• Myotonic dystrophy
• N-Acetylglutamate synthase deficiency
• NGLY1 deficiency
• Nablus mask-like facial syndrome
• Naegeli–Franceschetti–Jadassohn syndrome
• Nail–patella syndrome
• Nakajo syndrome
• Nasodigitoacoustic syndrome
• Nemaline myopathy
• Nephronophthisis
• Netherton syndrome
• Neuronal ceroid lipofuscinosis
• Neuropathy, ataxia, and retinitis pigmentosa
• Neu–Laxova syndrome
• Nevo syndrome
• Nezelof syndrome
• Niemann–Pick disease
• Niemann–Pick disease, SMPD1-associated
• Niemann–Pick disease, type C
• Nijmegen breakage syndrome
• Nonsyndromic deafness
• Noonan syndrome
• Norrie disease
• North American Indian childhood cirrhosis
• Occipital horn syndrome
• Ochronosis
• Ocular albinism
• Ocular albinism type 1
• Oculocerebrorenal syndrome
• Oculocutaneous albinism
• Oculocutaneous albinism type I
• Oculodentodigital dysplasia
• Oculofaciocardiodental syndrome
• Oculopharyngeal muscular dystrophy
• Oguchi disease
• Omenn syndrome
• Opsismodysplasia
• Ornithine aminotransferase deficiency
• Ornithine transcarbamylase deficiency
• Ornithine translocase deficiency
• Orotic aciduria
• Otospondylomegaepiphyseal dysplasia
• PAPA syndrome
• Pachyonychia congenita
• Pallister–Hall syndrome
• Papillary fibroelastoma
• Papillary fibroelastoma
• Papillon–Lefèvre syndrome
• Papillorenal syndrome
• Parastremmatic dwarfism
• Pascual-Castroviejo syndrome type 1
• Pearson syndrome
• Pelger–Hu√´t anomaly
• Pelizaeus–Merzbacher disease
• Pendred syndrome
• Persistent Müllerian duct syndrome
• Peutz–Jeghers syndrome
• Phenylketonuria
• Phosphofructokinase deficiency
• Piebaldism
• Pipecolic acidemia
• Platyspondylic lethal skeletal dysplasia, Torrance type
• Polydactyly
• Polymerase proofreading-associated polyposis
• Pontocerebellar hypoplasia
• Popliteal pterygium syndrome
• Porphyria cutanea tarda
• Primary ciliary dyskinesia
• Prolidase deficiency
• Propionic acidemia
• Pseudo-Hurler polydystrophy
• Pseudoachondroplasia
• Pseudodominance
• Pseudoxanthoma elasticum
• Purine nucleoside phosphorylase deficiency
• Pycnodysostosis
• Pyruvate carboxylase deficiency
• RAPADILINO syndrome
• RASopathy
• Rabson–Mendenhall syndrome
• Raine syndrome
• Refsum disease
• Reis–Bucklers corneal dystrophy
• Renal dysplasia-limb defects syndrome
• Renal–hepatic–pancreatic dysplasia
• Renpenning's syndrome
• Reproductive compensation
• Restrictive dermopathy
• Rett syndrome
• Roberts syndrome
• Romano–Ward syndrome
• Rosselli–Gulienetti syndrome
• Rothmund–Thomson syndrome
• Rotor syndrome
• Roussy–Lévy syndrome
• Rubinstein–Taybi syndrome
• Ruijs-Aalfs syndrome
• STING-associated vasculopathy with onset in infancy
• SYT1-associated neurodevelopmental disorder
• Sabinas brittle hair syndrome
• Saethre–Chotzen syndrome
• Salla disease
• Sandhoff disease
• Sanfilippo syndrome
• Sanjad-Sakati syndrome
• Sarcosinemia
• Say–Meyer syndrome
• Schmitt Gillenwater Kelly syndrome
• Sengers syndrome
• Senior–Løken syndrome
• Severe congenital neutropenia
• Severe congenital neutropenia
• Short QT syndrome
• Short-chain acyl-coenzyme A dehydrogenase deficiency
• Shwachman–Diamond syndrome
• Sickle Cell Anemia, a Molecular Disease
• Sickle cell disease
• Sickle cell trait
• Simpson–Golabi–Behmel syndrome
• Singleton Merten syndrome
• Situs inversus
• Sly syndrome
• Smith–Fineman–Myers syndrome
• Smith–Lemli–Opitz syndrome
• Spastic ataxia-corneal dystrophy syndrome
• Spinal and bulbar muscular atrophy
• Spinal muscular atrophy
• Spinal muscular atrophy with lower extremity predominance
• Spinal muscular atrophy with progressive myoclonic epilepsy
• Spinocerebellar ataxia
• Spinocerebellar ataxia type 1
• Spinocerebellar ataxia type 6
• Sponastrime dysplasia
• Spondylo-meta-epiphyseal dysplasia
• Spondylo-ocular syndrome
• Spondyloepimetaphyseal dysplasia, Strudwick type
• Spondyloepiphyseal dysplasia congenita
• Spondyloperipheral dysplasia
• Sporadic late-onset nemaline myopathy
• Stickler syndrome
• Succinic semialdehyde dehydrogenase deficiency
• Sugarman syndrome
• Systemic primary carnitine deficiency
• TRIANGLE disease
• Tafazzin
• Tangier disease
• Tay–Sachs disease
• Template:X-linked disorders
• Template:X-linked disorders
• Tetra-amelia syndrome
• Tetrahydrobiopterin deficiency
• Thalassemia
• Thiamine responsive megaloblastic anemia syndrome
• Threshold expression
• Tietz syndrome
• Timothy syndrome
• Treacher Collins syndrome
• Trichothiodystrophy
• Tricho–dento–osseous syndrome
• Trimethylaminuria
• Triosephosphate isomerase deficiency
• Triple-A syndrome
• Tuberous sclerosis
• Tyrosinemia
• Tyrosinemia type I
• Tyrosinemia type II
• Tyrosinemia type III
• Unverricht–Lundborg disease
• Upington disease
• Urbach–Wiethe disease
• Urocanic aciduria
• Urofacial syndrome
• Usher syndrome
• Variegate porphyria
• Very long-chain acyl-coenzyme A dehydrogenase deficiency
• Vici syndrome
• Vitelliform macular dystrophy
• Von Hippel–Lindau disease
• Von Willebrand disease
• WHIM syndrome
• Walker–Warburg syndrome
• Wallis–Zieff–Goldblatt syndrome
• Warburg Micro syndrome
• Weissenbacher–Zweymüller syndrome
• Werner syndrome
• White sponge nevus
• Wieacker syndrome
• Wiedemann–Rautenstrauch syndrome
• Wilson's disease
• Wolcott–Rallison syndrome
• Wolfram syndrome
• Woodhouse–Sakati syndrome
• Worth syndrome
• Wrinkly skin syndrome
• X-linked agammaglobulinemia
• X-linked dominant inheritance
• X-linked dystonia parkinsonism
• X-linked hypophosphatemia
• X-linked intellectual disability
• X-linked recessive chondrodysplasia punctata
• X-linked spinal muscular atrophy type 2
• XMEN disease
• Xeroderma pigmentosum
• Young–Madders syndrome
• Yunis–Varon syndrome
• ZAP70 deficiency
• Zamzam–Sheriff–Phillips syndrome
• Zaspopathy
• Zellweger spectrum disorders
• Zimmermann–Laband syndrome
• Zori–Stalker–Williams syndrome
• Zunich–Kaye syndrome

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See Also

• Genetics
• Genetic testing
• Gene therapy

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