HYC3
MCID: HYD066
MIFTS: 20

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 72 29 6
Hyc3 57 72
Hydrocephalus, Nonsyndromic, Autosomal Recessive 3, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
hydrocephalus, congenital, 3, with brain anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Hydrocephalus, Congenital, 3, with Brain Anomalies

UniProtKB/Swiss-Prot : 72 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 macrocephaly and hydrocephalus

More information from OMIM: 617967 PS236600

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

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hydrocephalus 31 HP:0000238
3 abnormal facial shape 31 HP:0001999
4 polyhydramnios 31 HP:0001561
5 dandy-walker malformation 31 HP:0001305
6 holoprosencephaly 31 HP:0001360
7 hydranencephaly 31 HP:0002324
8 brain atrophy 31 HP:0012444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Clinical features from OMIM®:

617967 (Updated 20-May-2021)

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

Genetic tests related to Hydrocephalus, Congenital, 3, with Brain Anomalies:

# Genetic test Affiliating Genes
1 Hydrocephalus, Congenital, 3, with Brain Anomalies 29 WDR81

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

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

40
Brain, Cerebellum

Publications for Hydrocephalus, Congenital, 3, with Brain Anomalies

Articles related to Hydrocephalus, Congenital, 3, with Brain Anomalies:

# Title Authors PMID Year
1
The genetic landscape of familial congenital hydrocephalus. 57 6
28556411 2017
2
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement. 61
33724704 2021

Variations for Hydrocephalus, Congenital, 3, with Brain Anomalies

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR81 NM_001163673.1(WDR81):c.59-2135C>T SNV Pathogenic 191291 rs770279237 GRCh37: 17:1631539-1631539
GRCh38: 17:1728245-1728245
2 WDR81 NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) SNV Pathogenic 183290 rs730882206 GRCh37: 17:1629098-1629098
GRCh38: 17:1725804-1725804
3 WDR81 NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) SNV Uncertain significance 235691 rs151330612 GRCh37: 17:1631785-1631785
GRCh38: 17:1728491-1728491
4 WDR81 NM_001163809.2(WDR81):c.4396C>T (p.Arg1466Trp) SNV Uncertain significance 931323 GRCh37: 17:1636032-1636032
GRCh38: 17:1732738-1732738
5 WDR81 NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) SNV Uncertain significance 808186 rs748793270 GRCh37: 17:1630304-1630304
GRCh38: 17:1727010-1727010
6 WDR81 NM_001163809.2(WDR81):c.487A>G (p.Ser163Gly) SNV Uncertain significance 1031892 GRCh37: 17:1628740-1628740
GRCh38: 17:1725446-1725446

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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