HYC3
MCID: HYD066
MIFTS: 16

Hydrocephalus, Congenital, 3, with Brain Anomalies (HYC3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Hydrocephalus, Congenital, 3, with Brain Anomalies

MalaCards integrated aliases for Hydrocephalus, Congenital, 3, with Brain Anomalies:

Name: Hydrocephalus, Congenital, 3, with Brain Anomalies 57 75 6
Hyc3 57 75
Hydrocephalus, Nonsyndromic, Autosomal Recessive 3, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
most patient die in utero or shortly after birth
two consanguineous saudi families have been reported (last curated may 2018)


HPO:

32
hydrocephalus, congenital, 3, with brain anomalies:
Onset and clinical course congenital onset


Classifications:



Summaries for Hydrocephalus, Congenital, 3, with Brain Anomalies

UniProtKB/Swiss-Prot : 75 Hydrocephalus, congenital, 3, with brain anomalies: A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive.

MalaCards based summary : Hydrocephalus, Congenital, 3, with Brain Anomalies, is also known as hyc3. An important gene associated with Hydrocephalus, Congenital, 3, with Brain Anomalies is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain and cerebellum, and related phenotypes are brain atrophy and hydrocephalus

Description from OMIM: 617967

Related Diseases for Hydrocephalus, Congenital, 3, with Brain Anomalies

Symptoms & Phenotypes for Hydrocephalus, Congenital, 3, with Brain Anomalies

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
brain atrophy
hydrocephalus
holoprosencephaly
dandy-walker malformation
hydranencephaly
more
Head And Neck Face:
dysmorphic facial features


Clinical features from OMIM:

617967

Human phenotypes related to Hydrocephalus, Congenital, 3, with Brain Anomalies:

32
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 HP:0012444
2 hydrocephalus 32 HP:0000238
3 holoprosencephaly 32 HP:0001360
4 dandy-walker malformation 32 HP:0001305
5 hydranencephaly 32 HP:0002324

Drugs & Therapeutics for Hydrocephalus, Congenital, 3, with Brain Anomalies

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Congenital, 3, with Brain Anomalies

Genetic Tests for Hydrocephalus, Congenital, 3, with Brain Anomalies

Anatomical Context for Hydrocephalus, Congenital, 3, with Brain Anomalies

MalaCards organs/tissues related to Hydrocephalus, Congenital, 3, with Brain Anomalies:

41
Brain, Cerebellum

Publications for Hydrocephalus, Congenital, 3, with Brain Anomalies

Variations for Hydrocephalus, Congenital, 3, with Brain Anomalies

ClinVar genetic disease variations for Hydrocephalus, Congenital, 3, with Brain Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR81 NM_001163809.1(WDR81): c.845G> A (p.Gly282Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730882206 GRCh38 Chromosome 17, 1725804: 1725804
2 WDR81 NM_001163809.1(WDR81): c.845G> A (p.Gly282Glu) single nucleotide variant Pathogenic/Likely pathogenic rs730882206 GRCh37 Chromosome 17, 1629098: 1629098
3 WDR81 NM_001163809.1(WDR81): c.3286C> T (p.Gln1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs770279237 GRCh37 Chromosome 17, 1631539: 1631539
4 WDR81 NM_001163809.1(WDR81): c.3286C> T (p.Gln1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs770279237 GRCh38 Chromosome 17, 1728245: 1728245

Expression for Hydrocephalus, Congenital, 3, with Brain Anomalies

Search GEO for disease gene expression data for Hydrocephalus, Congenital, 3, with Brain Anomalies.

Pathways for Hydrocephalus, Congenital, 3, with Brain Anomalies

GO Terms for Hydrocephalus, Congenital, 3, with Brain Anomalies

Sources for Hydrocephalus, Congenital, 3, with Brain Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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