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HYC1
MCID: HYD064
MIFTS: 47

Hydrocephalus, Congenital, 1 (HYC1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hydrocephalus, Congenital, 1

About this section

MalaCards integrated aliases for Hydrocephalus, Congenital, 1:

Name: Hydrocephalus, Congenital, 1 57 74
Ventriculomegaly 57 74 6
Hydrocephaly 57 74 40
Congenital Hydrocephalus 1 29 6
Hyc1 57 74
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 74
Congenital Non-Communicating Hydrocephalus 59
Congenital Obstructive Hydrocephalus 59

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


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

MeSH 44 D006849
ICD10 via Orphanet 34 Q03.1 Q03.8
Orphanet 59 ORPHA269510
Sources

Summaries for Hydrocephalus, Congenital, 1

About this section
OMIM : 57 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 visual epilepsy and ventriculomegaly with cystic kidney disease, and has symptoms including seizures An important gene associated with Hydrocephalus, Congenital, 1 is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways is Lysine degradation. The drugs Indomethacin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain, fetal brain and testes, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 74 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.

Sources

Related Diseases for Hydrocephalus, Congenital, 1

About this section

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 344)
# Related Disease Score Top Affiliating Genes
1 visual epilepsy 29.0 ATP1A3 ALDH7A1
2 ventriculomegaly with cystic kidney disease 12.8
3 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.7
4 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.7
5 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 12.4
6 vacterl hydrocephaly 12.4
7 ventriculomegaly with defects of the radius and kidney 12.4
8 vacterl association with hydrocephaly, x-linked 12.3
9 cerebellum agenesis hydrocephaly 12.1
10 enamel hypoplasia cataract hydrocephaly 12.1
11 growth retardation hydrocephaly lung hypoplasia 12.1
12 congenital hydrocephalus 11.6
13 hordnes engebretsen knudtson syndrome 11.5
14 achondroplasia 11.5
15 tenorio syndrome 11.4
16 hydrolethalus syndrome 2 11.3
17 game friedman paradice syndrome 11.3
18 palmer pagon syndrome 11.3
19 fumarase deficiency 11.2
20 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.2
21 hydrolethalus syndrome 1 11.2
22 nijmegen breakage syndrome 11.2
23 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.2
24 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
25 hurler syndrome 11.2
26 hurler-scheie syndrome 11.2
27 microphthalmia, syndromic 12 11.2
28 hydrocephalus with associated malformations 11.2
29 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.2
30 hydrocephalus with cerebellar agenesis 11.2
31 daish hardman lamont syndrome 11.2
32 deafness, dystonia, and cerebral hypomyelination 11.1
33 combined oxidative phosphorylation deficiency 6 11.1
34 linear skin defects with multiple congenital anomalies 1 11.1
35 bohring-opitz syndrome 11.1
36 cerebral palsy, spastic quadriplegic, 2 11.1
37 leukoencephalopathy, cystic, without megalencephaly 11.1
38 spinocerebellar ataxia, autosomal recessive 13 11.1
39 smith-kingsmore syndrome 11.1
40 hypotonia, infantile, with psychomotor retardation 11.1
41 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 11.1
42 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.1
43 sifrim-hitz-weiss syndrome 11.1
44 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.1
45 neurodevelopmental disorder and language delay with or without structural brain abnormalities 11.1
46 zika virus congenital syndrome 11.1
47 infantile spasms broad thumbs 11.1
48 ring chromosome 6 11.1
49 hydrocephalus 10.6
50 chromosomal triplication 10.4

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



Diseases related to Hydrocephalus, Congenital, 1
Sources

Symptoms & Phenotypes for Hydrocephalus, Congenital, 1

About this section

Human phenotypes related to Hydrocephalus, Congenital, 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

Symptoms via clinical synopsis from OMIM:

57
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.4 CDK8 SETD2
2 Increased Nanog expression GR00371-A-2 9.4 CDK8 SETD2
3 Increased Nanog expression GR00371-A-4 9.4 SETD2
4 Increased Nanog expression GR00371-A-5 9.4 SETD2
Sources

Drugs & Therapeutics for Hydrocephalus, Congenital, 1

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
2 Analgesics Phase 3
3 Analgesics, Non-Narcotic Phase 3
4 Tocolytic Agents Phase 3
5 Peripheral Nervous System Agents Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 3
7 Anti-Inflammatory Agents Phase 3
8 Antirheumatic Agents Phase 3
9 Cyclooxygenase Inhibitors Phase 3
10
Caffeine Approved Phase 2 58-08-2 2519
11 Neurotransmitter Agents Phase 2
12 Central Nervous System Stimulants Phase 2
13 Pharmaceutical Solutions Phase 2
14 Purinergic P1 Receptor Antagonists Phase 2
15 Tin Fluorides Phase 2
16 Phosphodiesterase Inhibitors Phase 2
17
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
18 leucine
19 Anesthetics

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial of Two Hemoglobin Thresholds for Transfusion in Newborns <1000g Birth Weight Completed NCT00182390 Phase 3
2 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337 Phase 3
3 Randomized Indomethacin Germinal Matrix Hemorrhage/Intraventricular Hemorrhage (GMH/IVH) Prevention Trial Completed NCT00033917 Phase 3 indomethacin;placebo
4 Intermittent Hypoxia and Caffeine in Infants Born Preterm (ICAF) Recruiting NCT03321734 Phase 2 Caffeine;Placebos
5 Prospective Follow-up of a Multicentric Cohort of Children With Prenatal Discovery of Mild Isolated Cerebral Ventriculomegaly. Evaluation at 2 and 5 Years. Unknown status NCT00421772
6 Use of Targeted Quantitative Proteomics and Metabolic Labelling With Stable Isotopes for the Diagnosis and the Investigation of Neurological Disorders and in Particular Alzheimer Disease Unknown status NCT02263235
7 Electrophysiologic Indicators of Gating and Timing Abnormalities in Autism Unknown status NCT00319722
8 Bispectral Index Monitoring of Propofol Anesthesia in Patients With Hydrocephalus. A Prospective Observational Study Completed NCT02575105
9 MRI of Ventriculomegaly: Morphology and Outcome Completed NCT00870675
10 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
11 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
12 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
13 Alterations in Cerebral Perfusion, Oxygenation, Electrical Activity, and Markers of Cerebral Damage Associated With Cerebro-spinal Fluid Reservior Aspiration in Neonates With Post Hemorrhagic Hydrocephalus Completed NCT00747682
14 Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH) Recruiting NCT03019692
15 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
16 Advanced MR Imaging of Perinatal Brain Injury: Correlation With Neurocognitive Outcome Recruiting NCT02008045
17 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298712
18 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Recruiting NCT03788122
19 Prenatal Surgical Repair of Fetal Myelomeningocele Active, not recruiting NCT01983345
20 Endovascular Management of Pediatric Intracranial Arteriovenous Shunts Not yet recruiting NCT03950258
21 Isolated Mild Fetal Ventriculomegaly and Neurodevelopmental Outcome Terminated NCT00256906
22 Fetal Brain Asymmetry: in Utero and Early Neonatal Follow up Terminated NCT01707875

Search NIH Clinical Center for Hydrocephalus, Congenital, 1

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Genetic Tests for Hydrocephalus, Congenital, 1

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Genetic tests related to Hydrocephalus, Congenital, 1:

# Genetic test Affiliating Genes
1 Congenital Hydrocephalus 1 29 CCDC88C
Sources

Anatomical Context for Hydrocephalus, Congenital, 1

About this section

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

41
Brain, Fetal Brain, Testes, Heart, Pineal, Spinal Cord, Eye
Sources

Publications for Hydrocephalus, Congenital, 1

About this section

Articles related to Hydrocephalus, Congenital, 1:

(show top 50) (show all 2197)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 8 71
29225145 2018
2
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 8 71
23042809 2012
3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 8 71
21031079 2010
4
Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. 38 8
3354602 1988
5
Chromosomal linkage associated with disease severity in the hydrocephalic H-Tx rat. 8
11529267 2001
6
Familial hydrocephalus of prenatal onset. 8
8116668 1994
7
Autosomal recessive hydrocephalus with third ventricle obstruction. 8
2178419 1990
8
Autosomal recessive nonsyndromal hydrocephalus. 8
3232709 1988
9
Inherited prenatal hydrocephalus in the H-Tx rat: a morphological study. 8
3221976 1988
10
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. 8
3295245 1987
11
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. 8
3950933 1986
12
CONSECUTIVE HYDROCEPHALUS: REPORT OF 2 CASES. 8
14207333 1964
13
The syndrome of sex-linked hydrocephalus. 8
13889295 1961
14
Three hydrocephalic newborns-each of a successive pregnancy of a white female. 8
13768991 1961
15
Congenital hydrocephalus inmonovular twins. 8
13827230 1959
16
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins]. 8
13152349 1953
17
[Familial congenital hydrocephalus]. 8
13019226 1952
18
Pineal Cyst without Hydrocephalus: Clinical Presentation and Postoperative Clinical Course After Infratentorial Supracerebellar Resection. 38
31154104 2019
19
ATAT1 regulates forebrain development and stress-induced tubulin hyperacetylation. 38
30953095 2019
20
Normal Pressure Hydrocephalus with Primary Presentation of Psychiatric Disturbance: Case Report. 38
31075808 2019
21
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for Pediatric Myelomeningocele: Executive Summary. 38
31418038 2019
22
Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Management of Patients With Myelomeningocele: Whether Persistent Ventriculomegaly Adversely Impacts Neurocognitive Development. 38
31418036 2019
23
Severe fetal anemia after umbilical cord occlusion leading to severe neurological injury in monochorionic twins. 38
31401894 2019
24
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. 38
31395947 2019
25
Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center. 38
31213636 2019
26
Role of adherens junctions and apical-basal polarity of neural stem/progenitor cells in the pathogenesis of neurodevelopmental disorders: a novel perspective on congenital Zika syndrome. 38
30904442 2019
27
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 38
31408229 2019
28
Hydrocephalus after foramen magnum decompression for Chiari I malformation successfully treated with the aspiration of pseudomeningocele: a case report. 38
31383038 2019
29
[Abnormal brain structure in preschool and school-aged children with autism spectrum disorder]. 38
31416497 2019
30
Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals. 38
30715739 2019
31
Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally. 38
30168217 2019
32
Indications for MRI in fetal isolated mild ventriculomegaly… 'And then, there were none'. 38
30908809 2019
33
The surgical results of endoscopic third ventriculostomy in long-standing overt ventriculomegaly in adults with papilledema. 38
31174900 2019
34
Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. 38
31422728 2019
35
Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography: systematic review and meta-analysis. 38
30549340 2019
36
Co-exposure with titanium dioxide nanoparticles exacerbates MCLR-induced brain injury in zebrafish. 38
31374495 2019
37
Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. 38
31323628 2019
38
The rate of brain abnormalities on in utero MRI studies in fetuses with normal ultrasound examinations of the brain and calculation of indicators of diagnostic performance. 38
30987757 2019
39
Fetal aqueductal stenosis: Prenatal diagnosis and intervention. 38
31306500 2019
40
Complications associated with the current sequential pharmacological management of early postnatal hypotension in extremely premature infants. 38
31384186 2019
41
Frontal Occipital and Frontal Temporal Horn Ratios: Comparison and Validation of Head Ultrasound-Derived Indexes With MRI and Ventricular Volumes in Infantile Ventriculomegaly. 38
31310185 2019
42
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil. 38
31365112 2019
43
AQP1 Overexpression in the CSF of Obstructive Hydrocephalus and Inversion of Its Polarity in the Choroid Plexus of a Chiari Malformation Type II Case. 38
31039249 2019
44
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series. 38
30921094 2019
45
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods. 38
30132994 2019
46
Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome. 38
31311125 2019
47
Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype? 38
31334068 2019
48
Pisa syndrome in Idiopathic Normal Pressure Hydrocephalus. 38
31300263 2019
49
Birth prevalence and characteristics of congenital cytomegalovirus infection in an urban birth cohort, Jakarta, Indonesia. 38
31207385 2019
50
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review. 38
31172545 2019
Sources

Variations for Hydrocephalus, Congenital, 1

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ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCDC88C NM_001080414.4(CCDC88C): c.934C> T (p.Arg312Ter) single nucleotide variant Pathogenic rs369384363 14:91804465-91804465 14:91338121-91338121
2 CCDC88C NM_001080414.4(CCDC88C): c.5841_5842del (p.Glu1949fs) deletion Pathogenic rs387907321 14:91739214-91739215 14:91272870-91272871
3 CCDC88C NM_001080414.4(CCDC88C): c.5058+1G> A single nucleotide variant Pathogenic rs387907320 14:91744265-91744265 14:91277921-91277921
4 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
5 CCDC88C NM_001080414.4(CCDC88C): c.5265_5266del (p.Phe1755fs) deletion Pathogenic 14:91739790-91739791 14:91273446-91273447
6 CDK8 NM_001260.3(CDK8): c.185C> A (p.Ser62Ter) single nucleotide variant Pathogenic 13:26911760-26911760 13:26337623-26337623
7 SETD2 NM_014159.6(SETD2): c.4997A> G (p.Tyr1666Cys) single nucleotide variant Pathogenic 3:47142966-47142966 3:47101476-47101476
8 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
9 ALDH7A1 NM_001182.5(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 5:125919689-125919689 5:126583997-126583997
10 ALDH7A1 NM_001182.5(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 5:125880712-125880712 5:126545020-126545020
11 ATP1A3 NM_152296.5(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 19:42490329-42490329 19:41986177-41986177
12 Translocation Likely pathogenic
13 KIF4A NM_012310.5(KIF4A): c.794G> T (p.Arg265Leu) single nucleotide variant Likely pathogenic X:69549270-69549270 X:70329420-70329420
14 KIF7 NM_198525.3(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 15:90193067-90193067 15:89649836-89649836
15 MED12 NM_005120.3(MED12): c.4342G> A (p.Gly1448Arg) single nucleotide variant Likely pathogenic rs1057518921 X:70352315-70352315 X:71132465-71132465
16 WDR37 NM_014023.4(WDR37): c.374C> T (p.Thr125Ile) single nucleotide variant Likely pathogenic rs1554823375 10:1126394-1126394 10:1080454-1080454
17 CCDC88C NM_001080414.4(CCDC88C): c.6026C> T (p.Pro2009Leu) single nucleotide variant Uncertain significance rs201940261 14:91739030-91739030 14:91272686-91272686
18 CCDC88C NM_001080414.4(CCDC88C): c.4579A> G (p.Thr1527Ala) single nucleotide variant Uncertain significance rs201414940 14:91749724-91749724 14:91283380-91283380
19 CCDC88C NM_001080414.4(CCDC88C): c.2393C> T (p.Ala798Val) single nucleotide variant Uncertain significance rs200650758 14:91779767-91779767 14:91313423-91313423
20 DOCK6 NM_020812.4(DOCK6): c.934C> T (p.His312Tyr) single nucleotide variant Uncertain significance rs370838036 19:11356328-11356328 19:11245652-11245652
21 CCDC88C NM_001080414.4(CCDC88C): c.590G> A (p.Arg197Gln) single nucleotide variant Uncertain significance rs200769097 14:91806262-91806262 14:91339918-91339918
22 CCDC88C NM_001080414.4(CCDC88C): c.2402G> A (p.Arg801Gln) single nucleotide variant Uncertain significance 14:91779758-91779758 14:91313414-91313414
23 CCDC88C NM_001080414.4(CCDC88C): c.1391G> A (p.Arg464His) single nucleotide variant Uncertain significance rs587782989 14:91787600-91787600 14:91321256-91321256
24 46;Y;inv(X)(p11.2q28)mat inversion Uncertain significance
25 AMER1 NM_152424.4(AMER1): c.1907_1908GA[2] (p.Glu637fs) short repeat Uncertain significance rs1555933313 X:63411255-63411256 X:64191375-64191376
26 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance 14:76105695-76107636 :0-0
27 subset of 43 genes:PAFAH1B1 GRCh37/hg19 17p13.3(chr17: 1-2538512)x4,5 copy number gain Uncertain significance 17:1-2538512 :0-0
28 CCDC88C NM_001080414.4(CCDC88C): c.1050+9C> T single nucleotide variant Likely benign rs372411289 14:91804340-91804340 14:91337996-91337996

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
Sources

Expression for Hydrocephalus, Congenital, 1

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

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

# Super pathways Score Top Affiliating Genes
1
Lysine degradation 37
10.39 SETD2 ALDH7A1
Sources

GO Terms for Hydrocephalus, Congenital, 1

About this section
Sources

Sources for Hydrocephalus, Congenital, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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