MCID: ISL047
MIFTS: 8

Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

MalaCards integrated aliases for Isolated Unilateral Hemispheric Cerebellar Hypoplasia:

Name: Isolated Unilateral Hemispheric Cerebellar Hypoplasia 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA269218

Summaries for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

MalaCards based summary : Isolated Unilateral Hemispheric Cerebellar Hypoplasia An important gene associated with Isolated Unilateral Hemispheric Cerebellar Hypoplasia is BAG6 (BAG Cochaperone 6). Affiliated tissues include brain.

Related Diseases for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Symptoms & Phenotypes for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Drugs & Therapeutics for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Genetic Tests for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Anatomical Context for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

MalaCards organs/tissues related to Isolated Unilateral Hemispheric Cerebellar Hypoplasia:

40
Brain

Publications for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Variations for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

ClinVar genetic disease variations for Isolated Unilateral Hemispheric Cerebellar Hypoplasia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MACF1 NM_012090.5(MACF1):c.15938G>A (p.Arg5313Gln)SNV Uncertain significance 632589 rs1218844508 1:39950304-39950304 1:39484632-39484632
2 BAG6 NM_080703.3(BAG6):c.3307C>T (p.Arg1103Ter)SNV Uncertain significance 632584 rs1281308977 6:31606982-31606982 6:31639205-31639205
3 SEMA6B NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)SNV Uncertain significance 632590 rs1279041694 19:4544446-4544446 19:4544434-4544434

Expression for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Search GEO for disease gene expression data for Isolated Unilateral Hemispheric Cerebellar Hypoplasia.

Pathways for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

GO Terms for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

Sources for Isolated Unilateral Hemispheric Cerebellar Hypoplasia

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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