Genetic Diseases & Conditions - Brain and nervous system

The brain and nervous system form a complex network of signals that carry information (in the form of electrical impulses) to and from the body. Several disorders that directly affect the nervous system have a genetic component.

A-T see ataxia-telangiectasia
AB variant see GM2-gangliosidosis, AB variant
Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
Acute cerebral Gaucher's disease see Gaucher disease, type 2
ACY2 deficiency see Canavan disease
AD see Alzheimer disease
Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
Alexander disease
Alpha-galactosidase A deficiency see Fabry disease
ALS see amyotrophic lateral sclerosis
ALX see Alexander disease
Alzheimer disease
Aminoacylase 2 deficiency see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry Disease see Fabry disease
Angelman syndrome
Angiokeratoma Corporis Diffusum see Fabry disease
Angiokeratoma diffuse see Fabry disease
Angiomatosis retinae see von Hippel-Lindau syndrome
AS see Angelman syndrome
Asp deficiency see Canavan disease
Aspa deficiency see Canavan disease
Aspartoacylase deficiency see Canavan disease
ataxia-telangiectasia
ATM see ataxia-telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
AxD see Alexander disease
B variant GM2 gangliosidosis see Tay-Sachs disease
BANF see neurofibromatosis type 2
Bartholin-Patau syndrome see trisomy 13
BCKD deficiency see maple syrup urine disease
BDLS see Cornelia de Lange syndrome
Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
Beuren syndrome see Williams syndrome
BH4 Deficiency see tetrahydrobiopterin deficiency
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
biotinidase deficiency
Bourneville Disease see tuberous sclerosis
Bourneville Phakomatosis see tuberous sclerosis
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
Branched-Chain Ketoaciduria see maple syrup urine disease
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
CACT deficiency see carnitine-acylcarnitine translocase deficiency
CADASIL
Canavan disease
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
carnitine-acylcarnitine translocase deficiency
Cat cry syndrome see cri-du-chat syndrome
CATCH22 see 22q11.2 deletion syndrome
CAVE complex see Pallister-Hall syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CDLS see Cornelia de Lange syndrome
Central Nervous System Cavernous haemangioma see cerebral cavernous malformation
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
Ceramide trihexosidase deficiency see Fabry disease
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL
cerebral cavernous malformation
cerebral sclerosis see tuberous sclerosis
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
Cerebroatrophic Hyperammonemia see Rett syndrome
Cerebroside Lipidosis Syndrome see Gaucher disease
Charcot disease see amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
Chromosome 5p- Syndrome see cri-du-chat syndrome
chromosome 13 trisomy syndrome see trisomy 13
chromosome 17p deletion syndrome see Smith-Magenis syndrome
citrullinaemia
Citrullinuria see citrullinaemia
Classic Galactosaemia see galactosaemia
Classical Niemann-Pick Disease see Niemann-Pick disease
Classical Phenylketonuria see phenylketonuria
Cloverleaf skull with thanatophoric dwarfism see thanatophoric dysplasia, type 2
CLS see Coffin-Lowry syndrome
CMT see Charcot-Marie-Tooth disease
Cockayne syndrome
Coffin-Lowry syndrome
Complete HPRT deficiency see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
Complete trisomy 13 syndrome see trisomy 13
Complete trisomy 18 syndrome see trisomy 18
compression neuropathy see hereditary neuropathy with liability to pressure palsies
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Cornelia de Lange syndrome
cri-du-chat syndrome
CS see Cockayne syndrome
D1 Trisomy see trisomy 13
DAF syndrome see Niemann-Pick disease
DAT - Dementia Alzheimer's type see Alzheimer disease
De Lange Syndrome see Cornelia de Lange syndrome
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
5p Deletion Syndrome see cri-du-chat syndrome
deletion 17p syndrome see Smith-Magenis syndrome
22q11.2 deletion syndrome
demyelinogenic leukodystrophy see Alexander disease
DHMN-V see distal hereditary motor neuropathy, type V
Diffuse Globoid Body Sclerosis see Krabbe disease
DiGeorge Syndrome see 22q11.2 deletion syndrome
distal hereditary motor neuropathy, type V
DM1 see myotonic dystrophy, type 1
DM2 see myotonic dystrophy, type 2
Down syndrome
DSMAV see distal hereditary motor neuropathy, type V
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
dysmyelinogenic leukodystrophy see Alexander disease
Dystrophia myotonica see myotonic dystrophy
E3 Trisomy see trisomy 18
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
Edwards Syndrome see trisomy 18
Elfin Facies Syndrome see Williams syndrome
Elfin facies with hypercalcemia see Williams syndrome
entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
Epiloia see tuberous sclerosis
FA - Friedreich ataxia see Friedreich ataxia
Fabry disease
FALS see amyotrophic lateral sclerosis
Familial Acoustic Neuromas see neurofibromatosis type 2
familial Alzheimer disease (FAD) see Alzheimer disease
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
Familial Cavernous haemangioma see cerebral cavernous malformation
Familial Cavernous Malformation see cerebral cavernous malformation
Familial Cerebral Cavernous Angioma see cerebral cavernous malformation
Familial Cerebral Cavernous Malformation see cerebral cavernous malformation
familial dysautonomia
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
Familial vascular leukoencephalopathy see CADASIL
FD see familial dysautonomia
fibrinoid degeneration of astrocytes see Alexander disease
Folling Disease see phenylketonuria
fra(X) syndrome see fragile X syndrome
fragile X syndrome
FRAXA Syndrome see fragile X syndrome
FRDA see Friedreich ataxia
Friedreich ataxia
FXS see fragile X syndrome
GA I see glutaric acidaemia type I
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
Galactosylceramidase Deficiency Disease see Krabbe disease
Galactosylceramide lipidosis see Krabbe disease
galactosylcerebrosidase deficiency see Krabbe disease
galactosylsphingosine lipidosis see Krabbe disease
GALC deficiency see Krabbe disease
GALT Deficiency see galactosaemia
GAN see giant axonal neuropathy
Gaucher disease
GD see Gaucher disease
giant axonal neuropathy
GLA deficiency see Fabry disease
globoid cell leukodystrophy (GCL, GLD) see Krabbe disease
globoid cell leukoencephalopathy see Krabbe disease
Glucocerebrosidase deficiency see Gaucher disease
Glucocerebrosidosis see Gaucher disease
Glucosyl cerebroside lipidosis see Gaucher disease
Glucosylceramidase deficiency see Gaucher disease
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
Glucosylceramide lipidosis see Gaucher disease
glutaric acidaemia type I
Glutaryl-CoA dehydrogenase deficiency see glutaric acidaemia type I
GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant
GM2 gangliosidosis, type 1 see Tay-Sachs disease
GM2 gangliosidosis, type 2 see Sandhoff disease
GM2 Gangliosidosis, Type II see Sandhoff disease
Greig cephalopolysyndactyly syndrome
Hall-Pallister syndrome see Pallister-Hall syndrome
Hepatolenticular degeneration syndrome see Wilson disease
Hereditary dystopic lipidosis see Fabry disease
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
hereditary motor neuroneopathy see spinal muscular atrophy
hereditary neuropathy with liability to pressure palsies
Hereditary Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis
Hereditary spinal ataxia see Friedreich ataxia
Hereditary Spinal Sclerosis see Friedreich ataxia
HexA deficiency see Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease see Sandhoff disease
Hexosaminidase A deficiency see Tay-Sachs disease
Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
Hippel-Lindau Disease see von Hippel-Lindau syndrome
HLCS deficiency see holocarboxylase synthetase deficiency
HMG-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMN V see distal hereditary motor neuropathy, type V
HMSN see Charcot-Marie-Tooth disease
HNPP see hereditary neuropathy with liability to pressure palsies
holocarboxylase synthetase deficiency
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
HSAN Type III see familial dysautonomia
HSAN3 see familial dysautonomia
HSN-III see familial dysautonomia
Huntington disease
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
Hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
Hyperphenylalaninemia, Non-Phenylketonuric see tetrahydrobiopterin deficiency
Hypocupremia, Congenital see Menkes syndrome
hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome
IAHSP see infantile-onset ascending hereditary spastic paralysis
Infantile cerebral Gaucher's disease see Gaucher disease, type 2
Infantile Gaucher Disease see Gaucher disease, type 2
Infantile hypercalcemia see Williams syndrome
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
infantile-onset ascending hereditary spastic paralysis
Inherited Human Transmissible Spongiform Encephalopathies see prion disease
inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
isovaleric acidaemia
Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidaemia
IVD deficiency see isovaleric acidaemia
JPLS see juvenile primary lateral sclerosis
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
juvenile primary lateral sclerosis
KD see spinal and bulbar muscular atrophy
Kennedy disease see spinal and bulbar muscular atrophy
Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
Kerasin histiocytosis see Gaucher disease
Kerasin lipoidosis see Gaucher disease
Kerasin thesaurismosis see Gaucher disease
Ketoacidaemia see maple syrup urine disease
Kinky Hair Syndrome see Menkes syndrome
Krabbe disease
Lacunar Dementias see CADASIL
Late Onset Alzheimer Disease see Alzheimer disease, type 2
Late-Onset Familial Alzheimer Disease (AD2) see Alzheimer disease, type 2
late-onset Krabbe disease (LOKD) see Krabbe disease
Lesch-Nyhan syndrome
Leukodystrophy, spongiform see Canavan disease
leukodystrophy with Rosenthal fibers see Alexander disease
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
Lipoid histiocytosis (kerasin type) see Gaucher disease
LNS see Lesch-Nyhan syndrome
Lou Gehrig Disease see amyotrophic lateral sclerosis
Louis-Bar syndrome see ataxia-telangiectasia
Malonic aciduria see malonyl-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
maple syrup urine disease
Marker X syndrome see fragile X syndrome
Martin-Bell Syndrome see fragile X syndrome
MCD deficiency see malonyl-CoA decarboxylase deficiency
Menkea syndrome see Menkes syndrome
Menkes syndrome
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
3-methylglutaconic aciduria
MK - Menkes syndrome see Menkes syndrome
MNK - Menkes syndrome see Menkes syndrome
Motor Neurone Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
MSUD see maple syrup urine disease
Multi-Infarct Dementia see CADASIL
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
Myotonia atrophica see myotonic dystrophy
Myotonia dystrophica see myotonic dystrophy
myotonic dystrophy
NBIA1 see pantothenate kinase-associated neurodegeneration
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
neurofibromatosis type 1
neurofibromatosis type 2
neuroneal Cholesterol Lipidosis see Niemann-Pick disease
neuroneopathy, distal hereditary motor, type V see distal hereditary motor neuropathy, type V
neuropathy, giant axonal see giant axonal neuropathy
NF1 see neurofibromatosis type 1
NF2 see neurofibromatosis type 2
Niemann-Pick disease
Non-neuroneopathic Gaucher Disease see Gaucher disease, type 1
Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency
Norrbottnian Gaucher disease see Gaucher disease, type 3
NPD see Niemann-Pick disease
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
Pallister-Hall syndrome
pantothenate kinase-associated neurodegeneration
Parkinson disease
Patau syndrome see trisomy 13
PD - Parkinson's disease see Parkinson disease
PDM see myotonic dystrophy, type 2
Peripheral Neurofibromatosis see neurofibromatosis type 1
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria
PHS see Pallister-Hall syndrome
PKAN see pantothenate kinase-associated neurodegeneration
PKU see phenylketonuria
PLSJ see juvenile primary lateral sclerosis
PMA see Charcot-Marie-Tooth disease
Presenile and senile dementia see Alzheimer disease
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
Primary Parkinsonism see Parkinson disease
Primary Senile Degenerative Dementia see Alzheimer disease
prion disease
Progeria-Like Syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
Progressive Muscular Atrophy see spinal muscular atrophy
PROMM see myotonic dystrophy, type 2
Proximal myotonic dystrophy see myotonic dystrophy, type 2
Proximal myotonic myopathy see myotonic dystrophy, type 2
pseudo-Gaucher disease see Gaucher-like disease
psychosine lipidosis see Krabbe disease
Recklinghausen Disease, Nerve see neurofibromatosis type 1
Rett syndrome
Ricker syndrome see myotonic dystrophy, type 2
Riley-Day Syndrome see familial dysautonomia
RSH Syndrome see Smith-Lemli-Opitz syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rett syndrome; Rubinstein-Taybi syndrome
RTT see Rett syndrome
Rubinstein-Taybi syndrome
SADDAN
Sandhoff disease
SBMA see spinal and bulbar muscular atrophy
Schilder-Addison Complex see X-linked adrenoleukodystrophy
Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
sclerosis tuberosa see tuberous sclerosis
SDAT see Alzheimer disease
Sedlackova syndrome see 22q11.2 deletion syndrome
Senile Dementia see Alzheimer disease, type 2
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
Shprintzen syndrome see 22q11.2 deletion syndrome
Skeleton-skin-brain syndrome see SADDAN
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
SMA see spinal muscular atrophy
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
SMS see Smith-Magenis syndrome
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis
Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
Sphingomyelin lipidosis see Niemann-Pick disease
Sphingomyelinase deficiency see Niemann-Pick disease
spinal and bulbar muscular atrophy
spinal muscular atrophy
spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
Spongy degeneration of central nervous system see Canavan disease
Spongy degeneration of the brain see Canavan disease
Spongy degeneration of white matter in infancy see Canavan disease
SSB syndrome see SADDAN
Steely Hair Syndrome see Menkes syndrome
Steinert Disease see myotonic dystrophy, type 1
Supravalvar aortic stenosis syndrome see Williams syndrome
5p- Syndrome see cri-du-chat syndrome
17p- syndrome see Smith-Magenis syndrome
Tay-Sachs disease
Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia, type 2
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
tetrahydrobiopterin deficiency
thanatophoric dysplasia
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies
Total hexosaminidase deficiency see Sandhoff disease
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
Transmissible Dementias see prion disease
Transmissible Spongiform Encephalopathies see prion disease
trisomy 13
trisomy 18
Trisomy 21 see Down syndrome
TSD see Tay-Sachs disease
TSEs see prion disease
tuberose sclerosis see tuberous sclerosis
tuberous sclerosis
Type 2 Gaucher Disease see Gaucher disease, type 2
Type 3 Gaucher Disease see Gaucher disease, type 3
UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Van Bogaert-Bertrand syndrome see Canavan disease
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
VHL syndrome see von Hippel-Lindau syndrome
Von Bogaert-Bertrand disease see Canavan disease
von Hippel-Lindau syndrome
von Recklinghausen Disease see neurofibromatosis type 1
WBS see Williams syndrome
WD - Wilson's disease see Wilson disease
Williams syndrome
Wilson disease
WMS see Williams syndrome
WS see Williams syndrome
X-linked adrenoleukodystrophy
X-linked copper deficiency see Menkes syndrome
X-linked hyperuricemia see Lesch-Nyhan syndrome
X-linked mental retardation and macroorchidism see fragile X syndrome
X-linked primary hyperuricemia see Lesch-Nyhan syndrome
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
47,XX,+21 see Down syndrome
47,XY,+21 see Down syndrome