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HYC1
MCID: HYD064
MIFTS: 48

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

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MalaCards integrated aliases for Hydrocephalus, Congenital, 1:

Name: Hydrocephalus, Congenital, 1 56 73
Ventriculomegaly 56 73 6
Hydrocephaly 56 73 39
Congenital Non-Communicating Hydrocephalus 58 29
Congenital Hydrocephalus 1 29 6
Hyc1 56 73
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 56
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 73
Congenital Obstructive Hydrocephalus 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
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: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 236600
OMIM Phenotypic Series 56 PS236600
MeSH 43 D006849
ICD10 via Orphanet 33 Q03.1 Q03.8
Orphanet 58 ORPHA269510
Sources

Summaries for Hydrocephalus, Congenital, 1

About this section
OMIM : 56 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, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include brain, fetal brain and heart, and related phenotypes are intellectual disability and hydrocephalus

UniProtKB/Swiss-Prot : 73 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 345)
# Related Disease Score Top Affiliating Genes
1 visual epilepsy 29.2 ATP1A3 ALDH7A1
2 ventriculomegaly with cystic kidney disease 12.8
3 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.8
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 enamel hypoplasia cataract hydrocephaly 12.2
10 growth retardation hydrocephaly lung hypoplasia 12.2
11 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.9
12 hydrocephalus with associated malformations 11.9
13 hordnes engebretsen knudtson syndrome 11.6
14 achondroplasia 11.5
15 combined oxidative phosphorylation deficiency 6 11.4
16 brain malformations with or without urinary tract defects 11.4
17 tenorio syndrome 11.4
18 hydrocephalus with cerebellar agenesis 11.3
19 palmer pagon syndrome 11.3
20 hydrolethalus syndrome 2 11.3
21 fumarase deficiency 11.2
22 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.2
23 hydrolethalus syndrome 1 11.2
24 nijmegen breakage syndrome 11.2
25 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.2
26 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
27 hurler syndrome 11.2
28 hurler-scheie syndrome 11.2
29 microphthalmia, syndromic 12 11.2
30 deafness, dystonia, and cerebral hypomyelination 11.1
31 linear skin defects with multiple congenital anomalies 1 11.1
32 bohring-opitz syndrome 11.1
33 cerebral palsy, spastic quadriplegic, 2 11.1
34 leukoencephalopathy, cystic, without megalencephaly 11.1
35 spinocerebellar ataxia, autosomal recessive 13 11.1
36 smith-kingsmore syndrome 11.1
37 hypotonia, infantile, with psychomotor retardation 11.1
38 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 11.1
39 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.1
40 sifrim-hitz-weiss syndrome 11.1
41 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.1
42 neurodevelopmental disorder and language delay with or without structural brain abnormalities 11.1
43 zika virus congenital syndrome 11.1
44 infantile spasms broad thumbs 11.1
45 ring chromosome 6 11.1
46 hydrocephalus 10.6
47 normal pressure hydrocephalus 10.5
48 chromosomal triplication 10.4
49 neural tube defects 10.4
50 anencephaly 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:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hydrocephalus 31 HP:0000238
3 ventriculomegaly 31 HP:0002119
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hydrocephalus
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 9.1 CDK8 SETD2
2 Increased Nanog expression GR00371-A-2 9.1 CDK8 SETD2
3 Increased Nanog expression GR00371-A-4 9.1 SETD2
4 Increased Nanog expression GR00371-A-5 9.1 SETD2
Sources

Drugs & Therapeutics for Hydrocephalus, Congenital, 1

About this section

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
2 Analgesics, Non-Narcotic Phase 3
3 Anti-Inflammatory Agents Phase 3
4 Analgesics Phase 3
5 Tocolytic Agents Phase 3
6 Cyclooxygenase Inhibitors Phase 3
7 Antirheumatic Agents Phase 3
8 Anti-Inflammatory Agents, Non-Steroidal Phase 3
9
Caffeine Approved Phase 2 58-08-2 2519
10 Phosphodiesterase Inhibitors Phase 2
11 Central Nervous System Stimulants Phase 2
12 Pharmaceutical Solutions Phase 2
13 Tin Fluorides Phase 2
14 Neurotransmitter Agents Phase 2
15
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
16 Anesthetics
17
Leucine Investigational, Nutraceutical 61-90-5 6106

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 Endovascular Management of Pediatric Intracranial Arteriovenous Shunts Completed NCT03950258
12 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
13 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
14 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
15 Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH) Recruiting NCT03019692
16 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633
17 Advanced MR Imaging of Perinatal Brain Injury: Correlation With Neurocognitive Outcome Recruiting NCT02008045
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 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298712
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

Sources

Genetic Tests for Hydrocephalus, Congenital, 1

About this section

Genetic tests related to Hydrocephalus, Congenital, 1:

# Genetic test Affiliating Genes
1 Congenital Hydrocephalus 1 29 CCDC88C
2 Congenital Non-Communicating Hydrocephalus 29
Sources

Anatomical Context for Hydrocephalus, Congenital, 1

About this section

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

40
Brain, Fetal Brain, Heart, Testes, Pineal, Spinal Cord, Eye
Sources

Publications for Hydrocephalus, Congenital, 1

About this section

Articles related to Hydrocephalus, Congenital, 1:

(show top 50) (show all 2322)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 56 6
29225145 2018
2
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 6 56
23042809 2012
3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 6 56
21031079 2010
4
Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. 56 61
3354602 1988
5
Chromosomal linkage associated with disease severity in the hydrocephalic H-Tx rat. 56
11529267 2001
6
Familial hydrocephalus of prenatal onset. 56
8116668 1994
7
Autosomal recessive hydrocephalus with third ventricle obstruction. 56
2178419 1990
8
Autosomal recessive nonsyndromal hydrocephalus. 56
3232709 1988
9
Inherited prenatal hydrocephalus in the H-Tx rat: a morphological study. 56
3221976 1988
10
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. 56
3295245 1987
11
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. 56
3950933 1986
12
CONSECUTIVE HYDROCEPHALUS: REPORT OF 2 CASES. 56
14207333 1964
13
The syndrome of sex-linked hydrocephalus. 56
13889295 1961
14
Three hydrocephalic newborns-each of a successive pregnancy of a white female. 56
13768991 1961
15
Congenital hydrocephalus inmonovular twins. 56
13827230 1959
16
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins]. 56
13152349 1953
17
[Familial congenital hydrocephalus]. 56
13019226 1952
18
Fetal wide subarachnoid space and its outcome in cases of macrocephaly without ventriculomegaly. 61
30513033 2020
19
Refractory communicating hydrocephalus after radiation for small vestibular schwannoma with asymptomatic ventriculomegaly: A case report. 61
32435322 2020
20
Proliferation of endothelial cells in the choroid plexus of normal and hydrocephalic mice. 61
32360474 2020
21
A perspective in the management of myelomeningocoele in the KwaZulu-Natal Province of South Africa. 61
31974664 2020
22
A venous mechanism of ventriculomegaly shared between traumatic brain injury and normal ageing. 61
32372102 2020
23
A novel approach to multiple anatomical shape analysis: Application to fetal ventriculomegaly. 61
32559594 2020
24
Why a focus session on fetal ventriculomegaly and congenital hydrocephalus? 61
32494970 2020
25
A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats. 61
32575532 2020
26
Lateral ventricular volume and calcarine sulcus depth: a fetal MRI analysis of mild ventriculomegaly: A STROBE compliant article. 61
32569198 2020
27
Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis. 61
32525257 2020
28
Intraventricular Hemorrhage Clearance in Human Neonatal Cerebrospinal Fluid: Associations With Hydrocephalus. 61
32397930 2020
29
A Single-Center Experience with a Pregnant Immigrant Population and Zika Virus Serologic Screening in New York City. 61
31146294 2020
30
Ventriculo-peritoneal shunting devices for hydrocephalus. 61
32542676 2020
31
Aqueductal Compression by Dilated Virchow-Robin Spaces in the Mesencephalic-Pontine Region Presenting with Symptoms Mimicking Normal Pressure Hydrocephalus: A Case Report and Review of Literature. 61
32200017 2020
32
The Influence of Various Cerebral and Extracerebral Pathologies on Apparent Diffusion Coefficient Values in the Fetal Brain. 61
32557916 2020
33
Histopathologic evaluation of experimental murine neurocysticercosis after treatment with albendazole/nitazoxanide combination. 61
32234089 2020
34
Association Between Cerebrospinal Fluid Biomarkers and Age-related Brain Changes in Patients with Normal Pressure Hydrocephalus. 61
32499567 2020
35
Endoscopic management of pineal cyst-associated aqueductal stenosis. 61
32562121 2020
36
Expanding the phenotype of COL4A1-related disorders-Four novel variants. 61
32565002 2020
37
Ventricular and total brain volumes in infants with congenital heart disease: a longitudinal study. 61
32546829 2020
38
Prediction of Neurodevelopmental Impairment in Congenital Cytomegalovirus Infection by Early Postnatal Magnetic Resonance Imaging. 61
32492677 2020
39
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management. 61
32208299 2020
40
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. 61
32275884 2020
41
Prevalence of Alternative Diagnoses and Implications for Management in Idiopathic Normal Pressure Hydrocephalus Patients. 61
32472677 2020
42
Prenatal diagnosis of central nervous system abnormalities: Neurosonography versus fetal magnetic resonance imaging. 61
32460228 2020
43
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. 61
32169460 2020
44
"Two-Birds-One-Stone" Approach for Treating an Infant with Chiari I Malformation and Hydrocephalus: Is Cerebrospinal Fluid Diversion as Sole Treatment Enough? 61
32028005 2020
45
The effect of mTOR inhibition on obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA). 61
32285309 2020
46
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 61
32439809 2020
47
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly. 61
32051522 2020
48
Two-year postnatal outcome of 263 cases of fetal ventriculomegaly. 61
30185084 2020
49
Commentary: Idiopathic Normal-Pressure Hydrocephalus: Diagnostic Accuracy of Automated Sulcal Morphometry in Patients With Ventriculomegaly. 61
32412589 2020
50
Cranial Ultrasound and Minor Motor Abnormalities at 2 Years in Extremely Low Gestational Age Infants. 61
31880687 2020
Sources

Variations for Hydrocephalus, Congenital, 1

About this section

ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC88C NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs)deletion Pathogenic 623482 rs1567043467 14:91739790-91739791 14:91273446-91273447
2 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)SNV Pathogenic 631491 rs1565977796 13:26911760-26911760 13:26337623-26337623
3 SETD2 NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)SNV Pathogenic 632591 rs1559720382 3:47142966-47142966 3:47101476-47101476
4 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
5 CCDC88C NM_001080414.4(CCDC88C):c.5058+1G>ASNV Pathogenic 39860 rs387907320 14:91744265-91744265 14:91277921-91277921
6 CCDC88C NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)SNV Pathogenic 39861 rs369384363 14:91804465-91804465 14:91338121-91338121
7 CCDC88C NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)deletion Pathogenic 39862 rs387907321 14:91739214-91739215 14:91272870-91272871
8 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)SNV Pathogenic 161122 rs542652468 19:42490329-42490329 19:41986177-41986177
9 46;X;t(X;5)(p11.23;q35)dnTranslocation Pathogenic 267815
10 46;XY;inv(1)(p22.3p34.1)dninversion Pathogenic 268016
11 ALDH7A1 NM_001182.5(ALDH7A1):c.1566-1G>TSNV Pathogenic 374140 rs140845195 5:125880712-125880712 5:126545020-126545020
12 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
13 MED12 NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg)SNV Likely pathogenic 374138 rs1057518921 X:70352315-70352315 X:71132465-71132465
14 46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dnTranslocation Likely pathogenic 267912
15 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
16 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
17 CCDC88C NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)SNV Conflicting interpretations of pathogenicity 376980 rs200769097 14:91806262-91806262 14:91339918-91339918
18 AMER1 NM_152424.4(AMER1):c.1907_1908GA[2] (p.Glu637fs)short repeat Uncertain significance 523561 rs1555933313 X:63411255-63411256 X:64191375-64191376
19 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636)copy number loss Uncertain significance 523310 14:76105695-76107636
20 subset of 43 genes: PAFAH1B1 GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5copy number gain Uncertain significance 544685 17:1-2538512
21 DOCK6 NM_020812.4(DOCK6):c.934C>T (p.His312Tyr)SNV Uncertain significance 374251 rs370838036 19:11356328-11356328 19:11245652-11245652
22 CCDC88C NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)SNV Uncertain significance 444336 rs201940261 14:91739030-91739030 14:91272686-91272686
23 CCDC88C NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)SNV Uncertain significance 447019 rs201414940 14:91749724-91749724 14:91283380-91283380
24 CCDC88C NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)SNV Uncertain significance 447015 rs200650758 14:91779767-91779767 14:91313423-91313423
25 CCDC88C NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)SNV Uncertain significance 634447 rs372168003 14:91779758-91779758 14:91313414-91313414
26 46;Y;inv(X)(p11.2q28)matinversion Uncertain significance 267928
27 CCDC88C NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)SNV Uncertain significance 155879 rs587782989 14:91787600-91787600 14:91321256-91321256
28 CCDC88C NM_001080414.4(CCDC88C):c.1050+9C>TSNV Likely benign 518258 rs372411289 14:91804340-91804340 14:91337996-91337996

Copy number variations for Hydrocephalus, Congenital, 1 from CNVD:

7
# CNVD ID Chromosome 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 36
10.41 SETD2 ALDH7A1
Sources

GO Terms for Hydrocephalus, Congenital, 1

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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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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