MCID: HYD060
MIFTS: 33

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

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

Aliases & Classifications for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

MalaCards integrated aliases for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:

Name: Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 57 73
Ventriculomegaly 57 75 29 6
Hydrocephalus, Nonsyndromic, Autosomal Recessive 57 13 40
Hydrocephaly 57 75 40
Hyc1 57 75
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 75
Hydrocephalus 73

Characteristics:

OMIM:

57
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 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

OMIM : 57 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 1, also known as ventriculomegaly, is related to congenital hydrocephalus and ventriculomegaly with cystic kidney disease, and has symptoms including back pain, headache and pain. An important gene associated with Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 is CCDC88C (Coiled-Coil Domain Containing 88C). The drugs Midazolam and Adjuvants, Anesthesia have been mentioned in the context of this disorder. Related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 75 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 1

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Congenital Hydrocephalus Hydrocephalus Autosomal Recessive

Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 31.1 CCDC88C MPDZ
2 ventriculomegaly with cystic kidney disease 12.4
3 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.4
4 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
5 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.0
6 vacterl hydrocephaly 12.0
7 vacterl association with hydrocephaly, x-linked 11.9
8 ventriculomegaly with defects of the radius and kidney 11.9
9 cerebellum agenesis hydrocephaly 11.8
10 enamel hypoplasia cataract hydrocephaly 11.8
11 growth retardation hydrocephaly lung hypoplasia 11.8
12 hydrocephaly corpus callosum agenesis diaphragmatic hernia 11.8
13 vacterl association with hydrocephalus 11.2
14 hydrocephalus, nonsyndromic, autosomal recessive 2 11.2
15 hydrolethalus syndrome 2 11.0
16 tenorio syndrome 11.0
17 game friedman paradice syndrome 11.0
18 fumarase deficiency 11.0
19 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
20 palmer pagon syndrome 11.0
21 nijmegen breakage syndrome 10.9
22 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.9
23 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
24 hurler syndrome 10.9
25 hurler-scheie syndrome 10.9
26 microphthalmia, syndromic 12 10.9
27 hydrocephalus with associated malformations 10.8
28 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 10.8
29 hydrocephalus 9.2 CCDC88C MPDZ
30 seizure disorder 9.2 ALDH7A1 ATP1A3

Graphical network of the top 20 diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:



Diseases related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Symptoms & Phenotypes for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
enlarged ventricles
mental retardation
poor motor development
seizures


Clinical features from OMIM:

236600

Human phenotypes related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:

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

UMLS symptoms related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:


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

GenomeRNAi Phenotypes related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.47 ATP1A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.47 ATP1A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.47 ALDH7A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.47 ALDH7A1 ATP1A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.47 ATP1A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.47 ALDH7A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 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 1

Drugs for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
2 Adjuvants, Anesthesia Phase 3
3 Anesthetics Phase 3
4 Anesthetics, General Phase 3
5 Anesthetics, Intravenous Phase 3
6 Anti-Anxiety Agents Phase 3
7 Central Nervous System Depressants Phase 3
8 GABA Agents Phase 3
9 GABA Modulators Phase 3
10 Hypnotics and Sedatives Phase 3
11 Neurotransmitter Agents Phase 3
12 Pharmaceutical Solutions Phase 3
13 Psychotropic Drugs Phase 3
14 Tranquilizing Agents Phase 3
15
Vinblastine Approved Phase 2 865-21-4 13342 241903
16 Antimitotic Agents Phase 2
17 Antineoplastic Agents, Phytogenic Phase 2
18
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
19 leucine Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intraoral 30% Glucose Effect In Newborns Completed NCT02325583 Phase 3 30% Glucose;Midazolam
2 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Recruiting NCT02651337 Phase 3
3 Cilengitide in Treating Younger Patients With Recurrent or Progressive High-Grade Glioma That Has Not Responded to Standard Therapy Completed NCT00679354 Phase 2 cilengitide
4 Study of Vinblastine in Combination With Nilotinib in Children, Adolescents, and Young Adults Recruiting NCT01887522 Phase 2 Vinblastine + Nilotinib;Vinblastine
5 In Vivo Alzheimer Proteomics Unknown status NCT02263235 Not Applicable
6 BIS Monitoring of Patients With Hydrocephalus Completed NCT02575105

Search NIH Clinical Center for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Genetic Tests for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Genetic tests related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Ventriculomegaly 29

Anatomical Context for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Publications for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

ClinVar genetic disease variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1:

6
(show all 29)
# 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 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
3 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh37 Chromosome 14, 91744265: 91744265
4 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh38 Chromosome 14, 91277921: 91277921
5 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh37 Chromosome 14, 91804465: 91804465
6 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh38 Chromosome 14, 91338121: 91338121
7 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh37 Chromosome 14, 91739214: 91739215
8 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842delAG (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh38 Chromosome 14, 91272870: 91272871
9 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
10 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
11 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
12 Translocation Likely pathogenic
13 46;Y;inv(X)(p11.2q28)mat inversion Uncertain significance
14 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
15 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh37 Chromosome 5, 125880712: 125880712
16 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh38 Chromosome 5, 126545020: 126545020
17 KIF7 NM_198525.2(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 GRCh37 Chromosome 15, 90193067: 90193067
18 KIF7 NM_198525.2(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 GRCh38 Chromosome 15, 89649836: 89649836
19 MED12 NM_005120.2(MED12): c.4342G> A (p.Gly1448Arg) single nucleotide variant Likely pathogenic rs1057518921 GRCh37 Chromosome X, 70352315: 70352315
20 MED12 NM_005120.2(MED12): c.4342G> A (p.Gly1448Arg) single nucleotide variant Likely pathogenic rs1057518921 GRCh38 Chromosome X, 71132465: 71132465
21 DOCK6 NM_020812.3(DOCK6): c.934C> T (p.His312Tyr) single nucleotide variant Uncertain significance rs370838036 GRCh37 Chromosome 19, 11356328: 11356328
22 DOCK6 NM_020812.3(DOCK6): c.934C> T (p.His312Tyr) single nucleotide variant Uncertain significance rs370838036 GRCh38 Chromosome 19, 11245652: 11245652
23 CCDC88C NM_001080414.3(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 GRCh37 Chromosome 14, 91804340: 91804340
24 CCDC88C NM_001080414.3(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 GRCh38 Chromosome 14, 91337996: 91337996
25 MPDZ NM_001261406.1(MPDZ): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs758473798 GRCh38 Chromosome 9, 13186350: 13186350
26 MPDZ NM_001261406.1(MPDZ): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs758473798 GRCh37 Chromosome 9, 13186349: 13186349
27 AMER1 NM_152424.3(AMER1): c.1911_1912delGA (p.Glu637Aspfs) deletion Uncertain significance GRCh38 Chromosome X, 64191375: 64191376
28 AMER1 NM_152424.3(AMER1): c.1911_1912delGA (p.Glu637Aspfs) deletion Uncertain significance GRCh37 Chromosome X, 63411255: 63411256
29 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance GRCh37 Chromosome 14, 76105695: 76107636

Copy number variations for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 from CNVD:

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

Expression for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Search GEO for disease gene expression data for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1.

Pathways for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

GO Terms for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Cellular components related to Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.62 ATP1A3 MPDZ

Sources for Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

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