HYDCC1
MCID: HYD070
MIFTS: 15

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 73 6
Hydcc1 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero
three unrelated families have been reported (last curated november 2019)


Classifications:



External Ids:

OMIM 56 618667
MeSH 43 D006849
MedGen 41 CN262876

Summaries for Hydrocephalus, Congenital Communicating, 1

UniProtKB/Swiss-Prot : 73 Hydrocephalus, congenital communicating, 1: A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYDCC1 inheritance is autosomal dominant.

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
neurodevelopmental delay
enlarged ventricles
epilepsy
hydrocephalus, communicating
schizencephalic clefts (in some patients)

Prenatal Manifestations:
hydrocephalus apparent on prenatal ultrasound

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. 6 56
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

UniProtKB/Swiss-Prot genetic disease variations for Hydrocephalus, Congenital Communicating, 1:

73
# Symbol AA change Variation ID SNP ID
1 TRIM71 p.Arg608His VAR_083426
2 TRIM71 p.Arg796His VAR_083427

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
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43 MeSH
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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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