MCID: CRB065
MIFTS: 5

Cerebellum Agenesis Hydrocephaly

Categories: Rare diseases

Aliases & Classifications for Cerebellum Agenesis Hydrocephaly

MalaCards integrated aliases for Cerebellum Agenesis Hydrocephaly:

Name: Cerebellum Agenesis Hydrocephaly 53
Hydrocephalus with Cerebellar Agenesis 53

Classifications:



Summaries for Cerebellum Agenesis Hydrocephaly

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1397Disease definitionThis syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.EpidemiologyIt has been described in four patients from two families.Differential diagnosisAnalysis of muscle biopsy samples indicated that this syndrome is distinct from Marinesco-Sjögren syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellum Agenesis Hydrocephaly, also known as hydrocephalus with cerebellar agenesis, is related to hydrocephalus with cerebellar agenesis. Affiliated tissues include cerebellum.

Related Diseases for Cerebellum Agenesis Hydrocephaly

Diseases related to Cerebellum Agenesis Hydrocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus with cerebellar agenesis 12.3

Symptoms & Phenotypes for Cerebellum Agenesis Hydrocephaly

Drugs & Therapeutics for Cerebellum Agenesis Hydrocephaly

Search Clinical Trials , NIH Clinical Center for Cerebellum Agenesis Hydrocephaly

Genetic Tests for Cerebellum Agenesis Hydrocephaly

Anatomical Context for Cerebellum Agenesis Hydrocephaly

MalaCards organs/tissues related to Cerebellum Agenesis Hydrocephaly:

41
Cerebellum

Publications for Cerebellum Agenesis Hydrocephaly

Variations for Cerebellum Agenesis Hydrocephaly

Expression for Cerebellum Agenesis Hydrocephaly

Search GEO for disease gene expression data for Cerebellum Agenesis Hydrocephaly.

Pathways for Cerebellum Agenesis Hydrocephaly

GO Terms for Cerebellum Agenesis Hydrocephaly

Sources for Cerebellum Agenesis Hydrocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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