MCID: CRB061
MIFTS: 2

Cerebellar Hypoplasia Tapetoretinal Degeneration

Categories: Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia Tapetoretinal Degeneration

MalaCards integrated aliases for Cerebellar Hypoplasia Tapetoretinal Degeneration:

Name: Cerebellar Hypoplasia Tapetoretinal Degeneration 52

Classifications:



Summaries for Cerebellar Hypoplasia Tapetoretinal Degeneration

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2246 Definition Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay , central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia , non-progressive ataxia and nystagmus . Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellar Hypoplasia Tapetoretinal Degeneration is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.

Related Diseases for Cerebellar Hypoplasia Tapetoretinal Degeneration

Diseases related to Cerebellar Hypoplasia Tapetoretinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 11.6

Symptoms & Phenotypes for Cerebellar Hypoplasia Tapetoretinal Degeneration

Drugs & Therapeutics for Cerebellar Hypoplasia Tapetoretinal Degeneration

Search Clinical Trials , NIH Clinical Center for Cerebellar Hypoplasia Tapetoretinal Degeneration

Genetic Tests for Cerebellar Hypoplasia Tapetoretinal Degeneration

Anatomical Context for Cerebellar Hypoplasia Tapetoretinal Degeneration

Publications for Cerebellar Hypoplasia Tapetoretinal Degeneration

Variations for Cerebellar Hypoplasia Tapetoretinal Degeneration

Expression for Cerebellar Hypoplasia Tapetoretinal Degeneration

Search GEO for disease gene expression data for Cerebellar Hypoplasia Tapetoretinal Degeneration.

Pathways for Cerebellar Hypoplasia Tapetoretinal Degeneration

GO Terms for Cerebellar Hypoplasia Tapetoretinal Degeneration

Sources for Cerebellar Hypoplasia Tapetoretinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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