HYC1
MCID: HYD064
MIFTS: 40

Hydrocephalus, Congenital, 1 (HYC1)

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

Aliases & Classifications for Hydrocephalus, Congenital, 1

MalaCards integrated aliases for Hydrocephalus, Congenital, 1:

Name: Hydrocephalus, Congenital, 1 58 76
Ventriculomegaly 58 76 30 6
Hydrocephaly 58 76 41
Congenital Hydrocephalus 1 30 6
Hyc1 58 76
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 58
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hydrocephalus, congenital, 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrocephalus, Congenital, 1

OMIM : 58 Congenital hydrocephalus-1 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, Congenital, 1, also known as ventriculomegaly, is related to congenital hydrocephalus and hydrocephalus, and has symptoms including seizures An important gene associated with Hydrocephalus, Congenital, 1 is CCDC88C (Coiled-Coil Domain Containing 88C). Affiliated tissues include brain, fetal brain and bone, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 76 Hydrocephalus, congenital, 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. HYC1 inheritance is autosomal recessive.

Related Diseases for Hydrocephalus, Congenital, 1

Diseases in the Hydrocephalus family:

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

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 congenital hydrocephalus 31.2 CCDC88C MPDZ
2 hydrocephalus 30.4 CCDC88C MPDZ
3 epilepsy 28.9 ALDH7A1 ATP1A3
4 ventriculomegaly with cystic kidney disease 12.6
5 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.5
6 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.5
7 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.2
8 vacterl hydrocephaly 12.2
9 vacterl association with hydrocephaly, x-linked 12.1
10 ventriculomegaly with defects of the radius and kidney 12.1
11 cerebellum agenesis hydrocephaly 12.0
12 enamel hypoplasia cataract hydrocephaly 12.0
13 growth retardation hydrocephaly lung hypoplasia 12.0
14 hydrocephaly corpus callosum agenesis diaphragmatic hernia 12.0
15 hordnes engebretsen knudtson syndrome 11.4
16 hydrolethalus syndrome 2 11.2
17 tenorio syndrome 11.2
18 game friedman paradice syndrome 11.2
19 palmer pagon syndrome 11.2
20 fumarase deficiency 11.1
21 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.1
22 nijmegen breakage syndrome 11.0
23 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.0
24 megalencephaly-capillary malformation-polymicrogyria syndrome 11.0
25 hurler syndrome 11.0
26 hurler-scheie syndrome 11.0
27 microphthalmia, syndromic 12 11.0
28 hydrocephalus with associated malformations 11.0
29 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.0
30 hydrocephalus with cerebellar agenesis 11.0
31 daish hardman lamont syndrome 11.0
32 deafness, dystonia, and cerebral hypomyelination 11.0
33 combined oxidative phosphorylation deficiency 6 11.0
34 cerebral palsy, spastic quadriplegic, 2 11.0
35 leukoencephalopathy, cystic, without megalencephaly 11.0
36 spinocerebellar ataxia, autosomal recessive 13 11.0
37 smith-kingsmore syndrome 11.0
38 hypotonia, infantile, with psychomotor retardation 11.0
39 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 11.0
40 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.0
41 alkuraya-kucinskas syndrome 11.0
42 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.0
43 zika virus congenital syndrome 11.0
44 infantile spasms broad thumbs 11.0
45 ring chromosome 6 11.0
46 anencephaly 10.4
47 neural tube defects 10.3
48 hydranencephaly 10.3
49 microcephaly 10.2
50 chromosomal triplication 10.2

Graphical network of the top 20 diseases related to Hydrocephalus, Congenital, 1:



Diseases related to Hydrocephalus, Congenital, 1

Symptoms & Phenotypes for Hydrocephalus, Congenital, 1

Human phenotypes related to Hydrocephalus, Congenital, 1:

33
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ventriculomegaly 33 HP:0002119

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
seizures
enlarged ventricles
mental retardation
poor motor development

Clinical features from OMIM:

236600

UMLS symptoms related to Hydrocephalus, Congenital, 1:


seizures

GenomeRNAi Phenotypes related to Hydrocephalus, Congenital, 1 according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.5 ATP1A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.5 ATP1A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.5 ALDH7A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 ALDH7A1 ATP1A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 ATP1A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.5 ALDH7A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 ALDH7A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.5 ALDH7A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.5 ATP1A3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.5 ALDH7A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.5 ALDH7A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.5 ATP1A3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.5 ALDH7A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 ALDH7A1

Drugs & Therapeutics for Hydrocephalus, Congenital, 1

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Congenital, 1

Genetic Tests for Hydrocephalus, Congenital, 1

Genetic tests related to Hydrocephalus, Congenital, 1:

# Genetic test Affiliating Genes
1 Congenital Hydrocephalus 1 30 CCDC88C
2 Ventriculomegaly 30

Anatomical Context for Hydrocephalus, Congenital, 1

MalaCards organs/tissues related to Hydrocephalus, Congenital, 1:

42
Brain, Fetal Brain, Bone, Testes, Pineal

Publications for Hydrocephalus, Congenital, 1

Articles related to Hydrocephalus, Congenital, 1:

(show top 50) (show all 368)
# Title Authors Year
1
Correlation between fetal mild ventriculomegaly and biometric parameters. ( 28889762 )
2019
2
Clinical value of prenatal MRI for diagnosis of isolated ventriculomegaly and prediction of early postnatal developmental outcomes. ( 30499202 )
2019
3
Should MRI be performed on all fetuses with mild ventriculomegaly ? ( 30614017 )
2019
4
Natural history of ventriculomegaly in adults: a cluster analysis. ( 30771787 )
2019
5
Indications for MRI in fetal isolated mild ventriculomegaly… 'And then, there were none…'. ( 30908809 )
2019
6
The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly. ( 30910148 )
2019
7
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region. ( 29988670 )
2018
8
A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries. ( 30105815 )
2018
9
Postdecompressive Craniectomy Surgery, Ventriculomegaly, or Hydrocephalus Development: Imaging, Prevention, and Management. ( 29725165 )
2018
10
Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound. ( 30342661 )
2018
11
Natural history of fetal isolated ventriculomegaly: Comparison between pre- and post-natal imaging. ( 28475388 )
2018
12
Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral center. ( 28612638 )
2018
13
Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly. ( 28950252 )
2018
14
Characterizing biomarker features of cognitively normal individuals with ventriculomegaly. ( 29159265 )
2018
15
Neurodevelopmental and Behavioral Outcomes in Extremely Premature Neonates With Ventriculomegaly in the Absence of Periventricular-Intraventricular Hemorrhage. ( 29181530 )
2018
16
Early elective delivery for fetal ventriculomegaly: are neurosurgical and medical complications mitigated by this practice? ( 29196812 )
2018
17
Lateral ventricular volume measurement by 3D MR hydrography in fetal ventriculomegaly and normal lateral ventricles. ( 29251798 )
2018
18
Use of Fetal Magnetic Resonance Image Analysis and Machine Learning to Predict the Need for Postnatal Cerebrospinal Fluid Diversion in Fetal Ventriculomegaly. ( 29255892 )
2018
19
Copy number variations and fetal ventriculomegaly. ( 29356709 )
2018
20
Cortical folding alterations in fetuses with isolated non-severe ventriculomegaly. ( 29387528 )
2018
21
Altered cortical development in fetuses with isolated nonsevere ventriculomegaly assessed by neurosonography. ( 29458235 )
2018
22
Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis. ( 29484752 )
2018
23
Importance of Calvaria in Cerebrospinal Fluid Dynamics: A Case of Ventriculomegaly and Sinking Flap Syndrome after Decompressive Craniectomy. ( 29492142 )
2018
24
Ventriculomegaly in the Elderly: Who Needs a Shunt? A MRI Study on 90 Patients. ( 29492565 )
2018
25
Partial corpus callosal agenesis with ventriculomegaly and sulcal anomaly in a 10-year-old child. ( 29676349 )
2018
26
Mild fetal ventriculomegaly: diagnosis, evaluation, and management. ( 29705191 )
2018
27
Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature. ( 29709429 )
2018
28
Evaluation of choroid plexus with fetal magnetic resonance imaging: What happens in ventriculomegaly? ( 29739644 )
2018
29
Diagnosis, Classification, and Management of Fourth Ventriculomegaly in Adults: Report of 9 Cases and Literature Review. ( 29778601 )
2018
30
Etiology and Prognosis of Severe Ventriculomegaly Diagnosed at Late Gestation. ( 29975968 )
2018
31
Utility of prenatal MRI in the evaluation and management of fetal ventriculomegaly. ( 30158676 )
2018
32
Children Prenatally Believed to have Isolated Mild Ventriculomegaly. ( 30168217 )
2018
33
Two-year postnatal outcome of 263 cases of fetal ventriculomegaly. ( 30185084 )
2018
34
Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother. ( 30194807 )
2018
35
Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China. ( 30230267 )
2018
36
Clinical Reasoning: Ventriculomegaly detected on 20-week anatomic fetal ultrasound. ( 30249681 )
2018
37
Clinical Outcomes Following Prenatal Diagnosis of Asymmetric Ventriculomegaly, Interhemispheric Cyst, and Callosal Dysgenesis (AVID). ( 30511781 )
2018
38
Fetal wide subarachnoid space and its outcome in cases of macrocephaly without ventriculomegaly. ( 30513033 )
2018
39
Re: Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis. ( 30516324 )
2018
40
Systematic review and meta-analysis on the role of prenatal magnetic resonance imaging in the era of fetal neurosonography: mild and moderate ventriculomegaly. ( 30549340 )
2018
41
Fetal ventriculomegaly: What we have and what is still missing. ( 30573223 )
2018
42
Volumetric MRI Analysis of a Case of Severe Ventriculomegaly. ( 30574082 )
2018
43
Fetal ventriculomegaly and herpes encephalitis following primary maternal herpes simplex infection. ( 28966468 )
2017
44
Cortical Oligodendrocytes in Kaolin-Induced Hydrocephalus in Wistar Rat: Impact of Degree and Duration of Ventriculomegaly. ( 28867898 )
2017
45
Endoscopic Third Ventriculostomy in Normal Pressure Hydrocephalus and Symptomatic Long-standing Overt Ventriculomegaly. ( 29114272 )
2017
46
Paradoxical ventriculomegaly due to low-pressure hydrocephalus, a rare complication of the treatment of a trapped fourth ventricle: Case report. ( 28209310 )
2017
47
Abnormal Injury Response in Spontaneous Mild Ventriculomegaly Wistar Rat Brains: A Pathological Correlation Study of Diffusion Tensor and Magnetization Transfer Imaging in Mild Traumatic Brain Injury. ( 26905805 )
2017
48
Perinatal and long-term outcomes in fetuses diagnosed with isolated unilateral ventriculomegaly: systematic review and meta-analysis. ( 27091707 )
2017
49
Association between Fetal Cerebral Ventriculomegaly and Platelet Alloimmunisation. ( 27597992 )
2017
50
Correlating Prenatal Imaging Findings of Fetal Ventriculomegaly with the Need for Surgical Intervention in the First 3 Months after Birth. ( 27676186 )
2017

Variations for Hydrocephalus, Congenital, 1

ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
2 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
3 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
5 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh37 Chromosome 14, 91744265: 91744265
6 CCDC88C NM_001080414.3(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 GRCh38 Chromosome 14, 91277921: 91277921
7 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh37 Chromosome 14, 91804465: 91804465
8 CCDC88C NM_001080414.3(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 GRCh38 Chromosome 14, 91338121: 91338121
9 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842del (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh37 Chromosome 14, 91739214: 91739215
10 CCDC88C NM_001080414.3(CCDC88C): c.5841_5842del (p.Glu1949Glyfs) deletion Pathogenic rs387907321 GRCh38 Chromosome 14, 91272870: 91272871
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 GRCh38 Chromosome 14, 91337996: 91337996
24 CCDC88C NM_001080414.3(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 GRCh37 Chromosome 14, 91804340: 91804340
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_152424.4(AMER1): c.1911_1912del (p.Glu637Aspfs) deletion Uncertain significance rs1555933313 GRCh38 Chromosome X, 64191375: 64191376
28 AMER1 NM_152424.4(AMER1): c.1911_1912del (p.Glu637Aspfs) deletion Uncertain significance rs1555933313 GRCh37 Chromosome X, 63411255: 63411256
29 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance GRCh37 Chromosome 14, 76105695: 76107636
30 subset of 43 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1-2538512)x4,5 copy number gain Uncertain significance GRCh37 Chromosome 17, 1: 2538512
31 CCDC88C NM_001080414.4(CCDC88C): c.5265_5266delCA (p.Phe1755Leufs) deletion Pathogenic GRCh37 Chromosome 14, 91739790: 91739791
32 CCDC88C NM_001080414.4(CCDC88C): c.5265_5266delCA (p.Phe1755Leufs) deletion Pathogenic GRCh38 Chromosome 14, 91273446: 91273447

Copy number variations for Hydrocephalus, Congenital, 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, Congenital, 1

Search GEO for disease gene expression data for Hydrocephalus, Congenital, 1.

Pathways for Hydrocephalus, Congenital, 1

GO Terms for Hydrocephalus, Congenital, 1

Sources for Hydrocephalus, Congenital, 1

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