MCID: ATS179
MIFTS: 5

Autosomal Recessive Cerebral Atrophy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebral Atrophy

MalaCards integrated aliases for Autosomal Recessive Cerebral Atrophy:

Name: Autosomal Recessive Cerebral Atrophy 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebral atrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.8
Orphanet 58 ORPHA363969

Summaries for Autosomal Recessive Cerebral Atrophy

MalaCards based summary : Autosomal Recessive Cerebral Atrophy An important gene associated with Autosomal Recessive Cerebral Atrophy is TMPRSS4 (Transmembrane Serine Protease 4).

Related Diseases for Autosomal Recessive Cerebral Atrophy

Diseases in the Cerebral Atrophy family:

Autosomal Recessive Cerebral Atrophy

Symptoms & Phenotypes for Autosomal Recessive Cerebral Atrophy

Drugs & Therapeutics for Autosomal Recessive Cerebral Atrophy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Cerebral Atrophy

Genetic Tests for Autosomal Recessive Cerebral Atrophy

Anatomical Context for Autosomal Recessive Cerebral Atrophy

Publications for Autosomal Recessive Cerebral Atrophy

Articles related to Autosomal Recessive Cerebral Atrophy:

# Title Authors PMID Year
1
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. 61
23957953 2013

Variations for Autosomal Recessive Cerebral Atrophy

Expression for Autosomal Recessive Cerebral Atrophy

Search GEO for disease gene expression data for Autosomal Recessive Cerebral Atrophy.

Pathways for Autosomal Recessive Cerebral Atrophy

GO Terms for Autosomal Recessive Cerebral Atrophy

Sources for Autosomal Recessive Cerebral Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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