MCID: HYD047
MIFTS: 30

Hydrocephalus, Nonsyndromic, Autosomal Recessive

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

Aliases & Classifications for Hydrocephalus, Nonsyndromic, Autosomal Recessive

MalaCards integrated aliases for Hydrocephalus, Nonsyndromic, Autosomal Recessive:

Name: Hydrocephalus, Nonsyndromic, Autosomal Recessive 54 13
Ventriculomegaly 71 29
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 71
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 69
Hydrocephalus 69
Hydrocephaly 71
Hyc1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
one patient with normal psychomotor development has been reported (last curated december 2012)


HPO:

32
hydrocephalus, nonsyndromic, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrocephalus, Nonsyndromic, Autosomal Recessive

OMIM : 54
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). (236600)

MalaCards based summary : Hydrocephalus, Nonsyndromic, Autosomal Recessive, also known as ventriculomegaly, is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and ventriculomegaly with cystic kidney disease, and has symptoms including ventriculomegaly, seizures and hydrocephalus. An important gene associated with Hydrocephalus, Nonsyndromic, Autosomal Recessive is CCDC88C (Coiled-Coil Domain Containing 88C). Related phenotype is Increased shRNA abundance (Z-score > 2).

UniProtKB/Swiss-Prot : 71 Hydrocephalus, non-syndromic, autosomal recessive 1: A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment.

Related Diseases for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus Due to Aqueductal Stenosis
Hydrocephalus Autosomal Recessive Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
Nonsyndromic Hydrocephalus, Ccdc88c-Related Nonsyndromic Hydrocephalus, Mpdz-Related
Congenital Hydrocephalus

Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.2
2 ventriculomegaly with cystic kidney disease 12.2
3 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.2
4 hydrocephalus, nonsyndromic, autosomal recessive 2 12.1
5 vacterl hydrocephaly 11.9
6 vater association with macrocephaly and ventriculomegaly 11.9
7 vacterl association with hydrocephaly, x-linked 11.8
8 cerebellum agenesis hydrocephaly 11.7
9 enamel hypoplasia cataract hydrocephaly 11.7
10 growth retardation hydrocephaly lung hypoplasia 11.7
11 hydrocephaly corpus callosum agenesis diaphragmatic hernia 11.7
12 hydrocephalus 11.0
13 nonsyndromic hydrocephalus, ccdc88c-related 11.0
14 nonsyndromic hydrocephalus, mpdz-related 11.0
15 game friedman paradice syndrome 10.9
16 hydrolethalus syndrome 2 10.9
17 tenorio syndrome 10.9
18 hydrocephalus due to aqueductal stenosis 10.9
19 palmer pagon syndrome 10.9
20 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.8
21 microphthalmia, syndromic 12 10.8
22 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.8
23 nijmegen breakage syndrome 10.8
24 restless legs syndrome 3 9.5 ALDH7A1 ATP1A3
25 spinocerebellar degeneration 9.5 ALDH7A1 ATP1A3
26 glans penis cancer 9.2 ALDH7A1 ATP1A3
27 spinocerebellar ataxia 40 8.9 ALDH7A1 ATP1A3 CCDC88C
28 ichthyosis lamellar 1 8.8 ALDH7A1 ATP1A3 CCDC88C

Graphical network of the top 20 diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive:



Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive

Symptoms & Phenotypes for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
seizures
hydrocephalus
enlarged ventricles
poor motor development


Clinical features from OMIM:

236600

Human phenotypes related to Hydrocephalus, Nonsyndromic, Autosomal Recessive:

32
id Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 seizures 32 HP:0001250
3 hydrocephalus 32 HP:0000238
4 intellectual disability 32 HP:0001249

UMLS symptoms related to Hydrocephalus, Nonsyndromic, Autosomal Recessive:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Hydrocephalus, Nonsyndromic, Autosomal Recessive according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.47 ATP1A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.47 ALDH7A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.47 ALDH7A1 ATP1A3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.47 ATP1A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.47 ALDH7A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.47 ALDH7A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.47 ALDH7A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.47 ATP1A3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.47 ALDH7A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.47 ALDH7A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.47 ATP1A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.47 ALDH7A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 ALDH7A1

Drugs & Therapeutics for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Genetic Tests for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Genetic tests related to Hydrocephalus, Nonsyndromic, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Ventriculomegaly 29

Anatomical Context for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Publications for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive

ClinVar genetic disease variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
2 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh37 Chromosome 14, 91744265: 91744265
3 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh37 Chromosome 14, 91804465: 91804465
4 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh37 Chromosome 14, 91739214: 91739215
5 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
6 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh38 Chromosome 5, 126545020: 126545020

Copy number variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 176873 3 51700000 54400000 Loss SFMBT1 Ventriculomegaly

Expression for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Search GEO for disease gene expression data for Hydrocephalus, Nonsyndromic, Autosomal Recessive.

Pathways for Hydrocephalus, Nonsyndromic, Autosomal Recessive

GO Terms for Hydrocephalus, Nonsyndromic, Autosomal Recessive

Sources for Hydrocephalus, Nonsyndromic, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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