MCID: ISL047
MIFTS: 9

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 59 6

Classifications:



External Ids:

ICD10 via Orphanet 34 Q04.3
Orphanet 59 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 (BCL2 Associated Athanogene 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:

41
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MACF1 NM_012090.5(MACF1): c.15938G> A (p.Arg5313Gln) single nucleotide variant Uncertain significance 1:39950304-39950304 1:39484632-39484632
2 BAG6 NM_080703.3(BAG6): c.3307C> T (p.Arg1103Ter) single nucleotide variant Uncertain significance 6:31606982-31606982 6:31639205-31639205
3 SEMA6B NM_032108.4(SEMA6B): c.1834G> A (p.Val612Met) single nucleotide variant Uncertain significance 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

Biological processes related to Isolated Unilateral Hemispheric Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 8.62 SEMA6B BAG6

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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