HYDCC1
MCID: HYD070
MIFTS: 11

Hydrocephalus, Congenital Communicating, 1 (HYDCC1)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus, Congenital Communicating, 1

MalaCards integrated aliases for Hydrocephalus, Congenital Communicating, 1:

Name: Hydrocephalus, Congenital Communicating, 1 56 6
Hydcc1 56

Classifications:



External Ids:

OMIM 56 618667

Summaries for Hydrocephalus, Congenital Communicating, 1

MalaCards based summary : Hydrocephalus, Congenital Communicating, 1, is also known as hydcc1. An important gene associated with Hydrocephalus, Congenital Communicating, 1 is TRIM71 (Tripartite Motif Containing 71).

More information from OMIM: 618667

Related Diseases for Hydrocephalus, Congenital Communicating, 1

Diseases in the Communicating Hydrocephalus family:

Hydrocephalus, Congenital Communicating, 1 Congenital Communicating Hydrocephalus

Symptoms & Phenotypes for Hydrocephalus, Congenital Communicating, 1

Clinical features from OMIM:

618667

Drugs & Therapeutics for Hydrocephalus, Congenital Communicating, 1

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Congenital Communicating, 1

Genetic Tests for Hydrocephalus, Congenital Communicating, 1

Anatomical Context for Hydrocephalus, Congenital Communicating, 1

Publications for Hydrocephalus, Congenital Communicating, 1

Articles related to Hydrocephalus, Congenital Communicating, 1:

# Title Authors PMID Year
1
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. 56 6
29983323 2018
2
Co-existence of intact stemness and priming of neural differentiation programs in mES cells lacking Trim71. 56
26057209 2015
3
The let-7 microRNA target gene, Mlin41/Trim71 is required for mouse embryonic survival and neural tube closure. 56
19098426 2008

Variations for Hydrocephalus, Congenital Communicating, 1

ClinVar genetic disease variations for Hydrocephalus, Congenital Communicating, 1:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM71 NM_001039111.3(TRIM71):c.1823G>A (p.Arg608His)SNV Pathogenic 694594 3:32932519-32932519 3:32891027-32891027
2 TRIM71 NM_001039111.3(TRIM71):c.2387G>A (p.Arg796His)SNV Pathogenic 694595 3:32933083-32933083 3:32891591-32891591

Expression for Hydrocephalus, Congenital Communicating, 1

Search GEO for disease gene expression data for Hydrocephalus, Congenital Communicating, 1.

Pathways for Hydrocephalus, Congenital Communicating, 1

GO Terms for Hydrocephalus, Congenital Communicating, 1

Sources for Hydrocephalus, Congenital Communicating, 1

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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