CARASIL
MCID: CRB188
MIFTS: 38

Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy (CARASIL)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

MalaCards integrated aliases for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

Name: Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 57 72
Carasil 57 20 43 58 72 29
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 20 43 36 39 70
Carasil Syndrome 57 72 29 13 6
Maeda Syndrome 57 20 43 58 72
Subcortical Vascular Encephalopathy, Progressive 57 20 72
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 57 20
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 43
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy 58
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 72
Progressive Subcortical Vascular Encephalopathy 72
Nemoto Disease 43

Characteristics:

Orphanet epidemiological data:

58
cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in teens to late twenties (range 14 to 44 years)
rapidly progressive course
increased male to female ratio (7.5:1)


HPO:

31
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 600142
OMIM Phenotypic Series 57 PS125310
KEGG 36 H01757
MeSH 44 D015140
ICD10 via Orphanet 33 F01.1
UMLS via Orphanet 71 C1838577
Orphanet 58 ORPHA199354
MedGen 41 C1838577
UMLS 70 C1838577

Summaries for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

MedlinePlus Genetics : 43 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement.Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the bones of the spine (vertebrae) from one another.The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.

MalaCards based summary : Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy, also known as carasil, is related to htra1 disorder and binswanger's disease, and has symptoms including ataxia, abnormality of extrapyramidal motor function and pseudobulbar signs. An important gene associated with Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin, eye and smooth muscle, and related phenotypes are nystagmus and spasticity

GARD : 20 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments. Individuals with CARASIL usually develop symptoms between 20 and 30 years of age. Symptoms may include: muscle stiffness, personality changes, and memory loss. People with this disease may also experience dementia, hair loss ( alopecia ), and damage to the spinal column (spondylosis). CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

OMIM® : 57 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by Hara et al., 2009). (600142) (Updated 20-May-2021)

KEGG : 36 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1.

UniProtKB/Swiss-Prot : 72 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers.

Wikipedia : 73 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL),... more...

Related Diseases for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Diseases in the Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy family:

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2

Diseases related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 htra1 disorder 11.1
2 binswanger's disease 10.6
3 cerebral arteriosclerosis 10.6
4 alopecia 10.4
5 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.4
6 parkinsonism 10.3
7 spondylosis 10.3
8 arteriosclerosis 10.1
9 vascular disease 10.1
10 werner syndrome 10.1
11 kearns-sayre syndrome 10.1
12 supranuclear palsy, progressive, 1 10.1
13 aspiration pneumonia 10.1
14 vascular parkinsonism 10.1
15 amnestic disorder 10.1
16 hypoglycemic coma 10.1
17 generalized atherosclerosis 10.1
18 mutism 10.1
19 progeroid syndrome 10.1
20 arteriolosclerosis 10.0
21 vascular dementia 10.0
22 lateral meningocele syndrome 9.8
23 migraine with or without aura 1 9.8
24 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 9.8
25 autosomal recessive disease 9.8
26 diffuse alopecia areata 9.8
27 leukodystrophy 9.8
28 hemiplegia 9.8
29 optic neuritis 9.8
30 pseudobulbar palsy 9.8
31 dementia 9.8
32 neuritis 9.8
33 retinal vascular disease 9.8
34 mood disorder 9.8
35 pseudobulbar affect 9.8
36 encephalopathy 9.8
37 htra1-related cerebral small vessel disease 9.8
38 cathepsin a-related arteriopathy-strokes-leukoencephalopathy 9.8

Graphical network of the top 20 diseases related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:



Diseases related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy

Symptoms & Phenotypes for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Human phenotypes related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 gait disturbance 31 HP:0001288
7 alopecia 31 HP:0001596
8 stroke 31 HP:0001297
9 abnormality of extrapyramidal motor function 31 HP:0002071
10 babinski sign 31 HP:0003487
11 leukoencephalopathy 31 HP:0002352
12 rigidity 31 HP:0002063
13 dementia 31 HP:0000726
14 urinary incontinence 31 HP:0000020
15 progressive encephalopathy 31 HP:0002448
16 diffuse white matter abnormalities 31 HP:0007204
17 pseudobulbar signs 31 HP:0002200
18 diffuse demyelination of the cerebral white matter 31 HP:0007162
19 low back pain 31 HP:0003419
20 arteriosclerosis of small cerebral arteries 31 HP:0004931

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
gait disturbance
more
Head And Neck Eyes:
nystagmus (in some patients)

Cardiovascular Vascular:
normal blood pressure
small cerebral arteries show arteriosclerotic changes
small cerebral arteries show fibrous intimal proliferation
severe hyalinosis
splitting of the intima and/or internal elastic membrane

Genitourinary Bladder:
urinary incontinence

Skeletal Spine:
lower back pain
lumbago
lumbar disc herniation
spondylosis deformans

Skin Nails Hair Hair:
alopecia (occurs before neurologic signs, in some patients)

Clinical features from OMIM®:

600142 (Updated 20-May-2021)

UMLS symptoms related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:


ataxia; abnormality of extrapyramidal motor function; pseudobulbar signs; low back pain; muscle rigidity; muscle spasticity; abnormal pyramidal signs

Drugs & Therapeutics for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Search Clinical Trials , NIH Clinical Center for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy

Genetic Tests for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Genetic tests related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

# Genetic test Affiliating Genes
1 Carasil 29 HTRA1
2 Carasil Syndrome 29

Anatomical Context for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

MalaCards organs/tissues related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

40
Skin, Eye, Smooth Muscle, Temporal Lobe, Brain

Publications for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Articles related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Two novel HTRA1 mutations in a European CARASIL patient. 61 6 57
24500651 2014
2
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. 57 6 61
21115960 2010
3
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 61 6 57
19387015 2009
4
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 61 6 57
11889251 2002
5
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. 6 61
27164673 2016
6
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 61 6
26063658 2015
7
A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. 6 61
25772074 2015
8
A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient. 61 6
25957642 2015
9
Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis. 61 6
25770224 2015
10
Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome. 61 6
24535794 2014
11
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). 6 61
23963851 2013
12
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. 6 61
22900900 2012
13
A novel mutation in the HTRA1 gene causes CARASIL without alopecia. 61 6
21482952 2011
14
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. 57
7796840 1995
15
Progress in the genetics of cerebrovascular disease: inherited subcortical arteriopathies. 57
8042224 1994
16
Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature. 57
3572455 1987
17
Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults. 57
4053457 1985
18
Familial unusual encephalopathy of Binswanger's type without hypertension. 57
971885 1976
19
Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review. 61
32445900 2020
20
HTRA1-related autosomal dominant cerebral small vessel disease. 61
33109952 2020
21
Novel c.971A>G mutation in the HTRA1 gene in a Chinese family with CARASIL. 61
32895092 2020
22
CARASIL; The Backache, Baldness, Brain Attack Syndrome: The Indian Scenario. 61
33223683 2020
23
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. 61
32196841 2020
24
Differential diagnosis of temporal lobe lesions with hyperintense signal on T2-weighted and FLAIR sequences: pictorial essay. 61
32336830 2020
25
Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man. 61
32042911 2020
26
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
27
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature. 61
32719647 2020
28
A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation. 61
31494012 2019
29
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. 61
31484286 2019
30
Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features. 61
31403081 2019
31
Hereditary causes of ischemic cerebral small vessel disease. 61
30877727 2019
32
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade. 61
31316458 2019
33
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 61
30447605 2019
34
A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1. 61
30068478 2018
35
Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families. 61
30031255 2018
36
CADASIL brain vessels show a HTRA1 loss-of-function profile. 61
29725820 2018
37
Pericyte-derived bone morphogenetic protein 4 underlies white matter damage after chronic hypoperfusion. 61
28470822 2018
38
[Neurocognitive Disorders Other Than Alzheimer Disease: Vascular Dementia]. 61
29760289 2018
39
Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation. 61
29797751 2018
40
Review: Vascular dementia: clinicopathologic and genetic considerations. 61
29380913 2018
41
Loss of HtrA1 serine protease induces synthetic modulation of aortic vascular smooth muscle cells. 61
29768431 2018
42
CARASIL, a rare genetic cause of stroke in the young. 61
29322992 2018
43
The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation. 61
28402226 2017
44
CARASIL families from India with 3 novel null mutations in the HTRA1 gene. 61
29101275 2017
45
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. 61
28782182 2017
46
Hereditary cerebral small vessel disease and stroke. 61
28254515 2017
47
Neuropathology of cerebrovascular diseases. 61
28987197 2017
48
A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review. 61
28628911 2017
49
[Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)]. 61
28126975 2017
50
Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases. 61
27634960 2016

Variations for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

ClinVar genetic disease variations for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTRA1 NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) SNV Pathogenic 560164 rs1554950703 GRCh37: 10:124248979-124248979
GRCh38: 10:122489463-122489463
2 HTRA1 NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) SNV Pathogenic 30244 rs587776873 GRCh37: 10:124266312-124266312
GRCh38: 10:122506796-122506796
3 HTRA1 NM_002775.5(HTRA1):c.126del (p.Glu42fs) Deletion Pathogenic 180747 rs587776448 GRCh37: 10:124221294-124221294
GRCh38: 10:122461778-122461778
4 HTRA1 NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) SNV Pathogenic 180746 rs587776449 GRCh37: 10:124266390-124266390
GRCh38: 10:122506874-122506874
5 HTRA1 NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) SNV Pathogenic 180746 rs587776449 GRCh37: 10:124266390-124266390
GRCh38: 10:122506874-122506874
6 HTRA1 NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) SNV Pathogenic 156101 rs587776447 GRCh37: 10:124268257-124268257
GRCh38: 10:122508741-122508741
7 HTRA1 NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) SNV Pathogenic 7490 rs113993968 GRCh37: 10:124249119-124249119
GRCh38: 10:122489603-122489603
8 HTRA1 NM_002775.5(HTRA1):c.889G>A (p.Val297Met) SNV Pathogenic 7489 rs113993969 GRCh37: 10:124266318-124266318
GRCh38: 10:122506802-122506802
9 HTRA1 NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) SNV Pathogenic 7488 rs113993970 GRCh37: 10:124266333-124266333
GRCh38: 10:122506817-122506817
10 HTRA1 NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) SNV Pathogenic 7487 rs113993971 GRCh37: 10:124268274-124268274
GRCh38: 10:122508758-122508758
11 HTRA1 NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) SNV Pathogenic 156099 rs587776445 GRCh37: 10:124266250-124266250
GRCh38: 10:122506734-122506734
12 HTRA1 NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) SNV Likely pathogenic 978704 GRCh37: 10:124221403-124221403
GRCh38: 10:122461887-122461887
13 HTRA1 NM_002775.5(HTRA1):c.660C>G (p.His220Gln) SNV Likely pathogenic 870484 GRCh37: 10:124249025-124249025
GRCh38: 10:122489509-122489509
14 HTRA1 NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) SNV Uncertain significance 877269 GRCh37: 10:124273765-124273765
GRCh38: 10:122514249-122514249
15 HTRA1 NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) SNV Uncertain significance 156100 rs587776446 GRCh37: 10:124266283-124266283
GRCh38: 10:122506767-122506767
16 ARMS2 , HTRA1 NM_002775.5(HTRA1):c.102C>T (p.Ala34=) SNV Benign 21324 rs1049331 GRCh37: 10:124221270-124221270
GRCh38: 10:122461754-122461754
17 ARMS2 , HTRA1 NM_002775.5(HTRA1):c.108G>C (p.Gly36=) SNV Benign 21325 rs2293870 GRCh37: 10:124221276-124221276
GRCh38: 10:122461760-122461760
18 ARMS2 , HTRA1 NM_002775.5(HTRA1):c.108G>T (p.Gly36=) SNV Benign 21326 rs2293870 GRCh37: 10:124221276-124221276
GRCh38: 10:122461760-122461760
19 ARMS2 , HTRA1 NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) SNV Benign 299044 rs369149111 GRCh37: 10:124221227-124221227
GRCh38: 10:122461711-122461711

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

72
# Symbol AA change Variation ID SNP ID
1 HTRA1 p.Ala252Thr VAR_063148 rs113993968
2 HTRA1 p.Val297Met VAR_063149 rs113993969

Expression for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Search GEO for disease gene expression data for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy.

Pathways for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

GO Terms for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Sources for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

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