HYC1
MCID: HYD064
MIFTS: 51

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 57 72
Hydrocephaly 57 72 6 39
Ventriculomegaly 57 72 6
Congenital Non-Communicating Hydrocephalus 58 29
Congenital Hydrocephalus 1 29 6
Hyc1 57 72
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 72
Congenital Obstructive Hydrocephalus 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 236600
OMIM Phenotypic Series 57 PS236600
MeSH 44 D006849
ICD10 via Orphanet 33 Q03.1 Q03.8
Orphanet 58 ORPHA269510

Summaries for Hydrocephalus, Congenital, 1

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) (Updated 05-Apr-2021)

MalaCards based summary : Hydrocephalus, Congenital, 1, also known as hydrocephaly, is related to corpus callosum, agenesis of and multicystic dysplastic kidney, 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 drug Leucine has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and hydrocephalus

UniProtKB/Swiss-Prot : 72 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 357)
# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of 29.5 SETD2 MED12 KIF4A FZD3
2 multicystic dysplastic kidney 29.4 KIF4A FZD3
3 dandy-walker syndrome 29.1 SETD2 PDGFRB NID1 KIAA1109 DPH1
4 hydrocephalus 28.0 TMEM92 PLOD1 PDGFRB NID1 KIF4A KIAA1109
5 ventriculomegaly with cystic kidney disease 11.7
6 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 11.6
7 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 11.6
8 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.3
9 hydrocephalus with associated malformations 11.3
10 vacterl hydrocephaly 11.2
11 vacterl association with hydrocephaly, x-linked 11.2
12 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.2
13 tenorio syndrome 11.1
14 hydrocephalus with cerebellar agenesis 11.1
15 palmer pagon syndrome 11.0
16 hydrolethalus syndrome 2 11.0
17 fumarase deficiency 11.0
18 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.0
19 ventriculomegaly with defects of the radius and kidney 11.0
20 growth retardation hydrocephaly lung hypoplasia 11.0
21 enamel hypoplasia cataract hydrocephaly 10.9
22 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.9
23 achondroplasia 10.9
24 combined oxidative phosphorylation deficiency 6 10.9
25 brain malformations with or without urinary tract defects 10.9
26 hydrolethalus syndrome 1 10.9
27 nijmegen breakage syndrome 10.9
28 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.9
29 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
30 hurler syndrome 10.9
31 hurler-scheie syndrome 10.9
32 microphthalmia, syndromic 12 10.9
33 joubert syndrome 9 10.9
34 deafness, dystonia, and cerebral hypomyelination 10.8
35 linear skin defects with multiple congenital anomalies 1 10.8
36 bohring-opitz syndrome 10.8
37 cerebral palsy, spastic quadriplegic, 2 10.8
38 leukoencephalopathy, cystic, without megalencephaly 10.8
39 spinocerebellar ataxia, autosomal recessive 13 10.8
40 smith-kingsmore syndrome 10.8
41 hypotonia, infantile, with psychomotor retardation 10.8
42 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 10.8
43 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 10.8
44 sifrim-hitz-weiss syndrome 10.8
45 alkuraya-kucinskas syndrome 10.8
46 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 10.8
47 neurodevelopmental disorder and language delay with or without structural brain abnormalities 10.8
48 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 10.8
49 cleft palate, proliferative retinopathy, and developmental delay 10.8
50 zika virus congenital syndrome 10.8

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:

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®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
enlarged ventricles
mental retardation
poor motor development

Clinical features from OMIM®:

236600 (Updated 05-Apr-2021)

UMLS symptoms related to Hydrocephalus, Congenital, 1:


seizures

MGI Mouse Phenotypes related to Hydrocephalus, Congenital, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.23 ALDH7A1 ARFGEF2 CCDC88C CDK8 DPH1 FGFR2
2 behavior/neurological MP:0005386 10.22 ALDH7A1 ATP1A3 FGFR2 FZD3 KIAA1109 MAGEL2
3 growth/size/body region MP:0005378 10.21 ARFGEF2 ATP1A3 CCDC88C CDK8 DPH1 FGFR2
4 mortality/aging MP:0010768 10.1 ALDH7A1 ARFGEF2 ATP1A3 CDK8 DPH1 FGFR2
5 embryo MP:0005380 10.06 CDK8 DPH1 FGFR2 FZD3 KIAA1109 KIF7
6 craniofacial MP:0005382 9.98 CDK8 DPH1 FGFR2 KIF7 MED12 PDGFRB
7 limbs/digits/tail MP:0005371 9.92 CDK8 DPH1 FGFR2 FZD3 KIF7 MED12
8 nervous system MP:0003631 9.86 ALDH7A1 ARFGEF2 ATP1A3 CCDC88C CDK8 DPH1
9 muscle MP:0005369 9.7 ATP1A3 FGFR2 KIF7 MAGEL2 NID1 PDGFRB
10 skeleton MP:0005390 9.28 DPH1 FGFR2 KIF7 MAGEL2 MED12 PDGFRB

Drugs & Therapeutics for Hydrocephalus, Congenital, 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leucine Investigational, Nutraceutical 61-90-5 6106

Interventional clinical trials:


# 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 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
3 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
4 Quantitative Characterization of Safe Irrigation for Ventricular Shunt Catheters Completed NCT02651337
5 MRI of Ventriculomegaly: Morphology and Outcome Completed NCT00870675
6 Isolated Mild Fetal Ventriculomegaly and Neurodevelopmental Outcome Terminated NCT00256906

Search 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 29 CCDC88C
2 Congenital Non-Communicating Hydrocephalus 29

Anatomical Context for Hydrocephalus, Congenital, 1

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

40
Brain, Heart, Eye, Thyroid, Pineal, Cortex, Fetal Brain

Publications for Hydrocephalus, Congenital, 1

Articles related to Hydrocephalus, Congenital, 1:

(show top 50) (show all 712)
# Title Authors PMID Year
1
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. 57 6
29225145 2018
2
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. 57 6
23042809 2012
3
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 6 57
21031079 2010
4
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 6
24076603 2013
5
Chromosomal linkage associated with disease severity in the hydrocephalic H-Tx rat. 57
11529267 2001
6
Familial hydrocephalus of prenatal onset. 57
8116668 1994
7
Autosomal recessive hydrocephalus with third ventricle obstruction. 57
2178419 1990
8
Autosomal recessive nonsyndromal hydrocephalus. 57
3232709 1988
9
Inherited prenatal hydrocephalus in the H-Tx rat: a morphological study. 57
3221976 1988
10
Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. 57
3354602 1988
11
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. 57
3295245 1987
12
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. 57
3950933 1986
13
CONSECUTIVE HYDROCEPHALUS: REPORT OF 2 CASES. 57
14207333 1964
14
The syndrome of sex-linked hydrocephalus. 57
13889295 1961
15
Three hydrocephalic newborns-each of a successive pregnancy of a white female. 57
13768991 1961
16
Congenital hydrocephalus inmonovular twins. 57
13827230 1959
17
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins]. 57
13152349 1953
18
[Familial congenital hydrocephalus]. 57
13019226 1952
19
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS). 61
33772537 2021
20
A case of rapid deterioration in a subacute period after endoscopic third ventriculostomy. 61
33605824 2021
21
Surgical management of posterior fossa medulloblastoma in children: The Lyon experience. 61
33482236 2021
22
Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain. 61
33735099 2021
23
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. 61
33415748 2021
24
Bulging fontanel during a measles infection. 61
33489954 2020
25
The Latin American network for congenital malformation surveillance: ReLAMC. 61
33319501 2020
26
Endoscopic treatment of suprasellar arachnoid cysts indenting third ventricle with obstructive hydrocephalus in children: Thirteen cases. 61
33221784 2020
27
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. 61
32333401 2020
28
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations. 61
33073934 2020
29
Mitochondrial AIF loss causes metabolic reprogramming, caspase-independent cell death blockade, embryonic lethality, and perinatal hydrocephalus. 61
32480041 2020
30
Hydrocephaly associated with compound heterozygous alterations in TRAPPC12. 61
32347653 2020
31
Prevalence of torch infections and its associated poor outcome in high-risk pregnant women of Central India: Time to think for prevention strategies. 61
33154250 2020
32
Prevalence of Torch Infections and Its Associated Poor Outcome in High-Risk Pregnant Women of Central India: Time to Think for Prevention Strategies. 61
33589191 2020
33
Propofol-Bispectral Index (BIS) Electroencephalography (EEG) Pharmacokinetic-Pharmacodynamic Model in Patients With Post-Cerebral Hemorrhage Hydrocephalus. 61
32527157 2020
34
Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study. 61
32134219 2020
35
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
36
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
37
Trigeminal root massage in microsurgical treatment of trigeminal neuralgia patients without arterial compression: When, how and why. 61
31668629 2020
38
Pineal Region Tuberculoma Caused by Mycobacterium bovis as a Complication of Bacille Calmette-Guérin Vaccine: Case Report and Review of the Literature. 61
31181358 2020
39
Neurodevelopment Outcome of Neonates Treated With Intraventricular Colistin for Ventriculitis Caused by Multiple Drug-Resistant Pathogens-A Case Series. 61
33553063 2020
40
Evaluation of the effects of quercetin on brain lesions secondary to experimental hydrocephalus in rats. 61
31134338 2019
41
Incidence of congenital malformations and impact on the mortality of neonatal canines. 61
31442737 2019
42
Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects. 61
31856916 2019
43
Life without a brain: Neuroradiological and behavioral evidence of neuroplasticity necessary to sustain brain function in the face of severe hydrocephalus. 61
31712649 2019
44
Toxicological, gene expression and histopathological evaluations of environmentally realistic concentrations of polybrominated diphenyl ethers PBDE- 47, PBDE-99 and PBDE-209 on zebrafish embryos. 61
31437728 2019
45
Efficacy of ventriculoperitoneal shunting in patients with cryptococcal meningitis with intracranial hypertension. 61
31499210 2019
46
Congenital Anomalies in Children With Cerebral Palsy: A Systematic Review. 61
31208251 2019
47
Combination of fluoride and endosulfan induced teratogenicity and developmental toxicity in Swiss albino mice exposed during organogenesis. 61
31594477 2019
48
[¿Neurodegeneration and poor long-term post-vacuum results in hydrocephaly at idiopathic normal pressure? Contributions by Aragonés et al]. 61
30473206 2019
49
[The role of interventional neuroradiology in treatment of hemorrhagic stroke]. 61
31153680 2019
50
Centrosomal protein FOR20 is essential for cilia-dependent development in zebrafish embryos. 61
30475641 2019

Variations for Hydrocephalus, Congenital, 1

ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC88C NM_001080414.4(CCDC88C):c.5058+1G>A SNV Pathogenic 39860 rs387907320 GRCh37: 14:91744265-91744265
GRCh38: 14:91277921-91277921
2 CCDC88C NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) SNV Pathogenic 39861 rs369384363 GRCh37: 14:91804465-91804465
GRCh38: 14:91338121-91338121
3 CCDC88C NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) Deletion Pathogenic 39862 rs387907321 GRCh37: 14:91739214-91739215
GRCh38: 14:91272870-91272871
4 CCDC88C NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) Deletion Pathogenic 623482 rs1567043467 GRCh37: 14:91739790-91739791
GRCh38: 14:91273446-91273447
5 CCDC88C NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) Duplication Pathogenic 918058 GRCh37: 14:91875017-91875018
GRCh38: 14:91408673-91408674
6 MAGEL2 NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) Deletion Pathogenic 440463 rs770374710 GRCh37: 15:23890894-23890894
GRCh38: 15:23645747-23645747
7 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) copy number gain Pathogenic 523237 GRCh37: 1:12019879-12028775
GRCh38:
8 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic 631491 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
9 ALDH7A1 NM_001182.5(ALDH7A1):c.1566-1G>T SNV Pathogenic 374140 rs140845195 GRCh37: 5:125880712-125880712
GRCh38: 5:126545020-126545020
10 SETD2 NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) SNV Pathogenic 632591 rs1559720382 GRCh37: 3:47142966-47142966
GRCh38: 3:47101476-47101476
11 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic 374077 rs1057518879 GRCh37: 1:12025628-12025628
GRCh38: 1:11965571-11965571
12 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) SNV Pathogenic 161122 rs542652468 GRCh37: 19:42490329-42490329
GRCh38: 19:41986177-41986177
13 PDGFRB NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) SNV Pathogenic 375682 rs1060499542 GRCh37: 5:149505119-149505119
GRCh38: 5:150125556-150125556
14 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) SNV Pathogenic 17995 rs121912708 GRCh37: 5:125919689-125919689
GRCh38: 5:126583997-126583997
15 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) SNV Likely pathogenic 183359 rs730882250 GRCh37: 17:1943054-1943054
GRCh38: 17:2039760-2039760
16 MED12 NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg) SNV Likely pathogenic 374138 rs1057518921 GRCh37: X:70352315-70352315
GRCh38: X:71132465-71132465
17 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
18 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
19 NID1 NM_002508.3(NID1):c.3385+1G>A SNV Likely pathogenic 183319 rs730882225 GRCh37: 1:236143795-236143795
GRCh38: 1:235980495-235980495
20 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 GRCh37: 8:28413316-28413317
GRCh38: 8:28555799-28555800
21 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) Duplication Likely pathogenic 183282 rs730882200 GRCh37: 20:47570141-47570142
GRCh38: 20:48953604-48953605
22 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) SNV Likely pathogenic 183349 rs730882245 GRCh37: 4:123128323-123128323
GRCh38: 4:122207168-122207168
23 TMEM92 NM_153229.3(TMEM92):c.95+3A>G SNV Likely pathogenic 183355 rs730882247 GRCh37: 17:48355104-48355104
GRCh38: 17:50277743-50277743
24 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely pathogenic 374124 rs758361736 GRCh37: 15:90193067-90193067
GRCh38: 15:89649836-89649836
25 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Likely pathogenic 13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
26 AMER1 NM_152424.4(AMER1):c.1907_1908GA[2] (p.Glu637fs) Microsatellite Uncertain significance 523561 rs1555933313 GRCh37: X:63411255-63411256
GRCh38: X:64191375-64191376
27 CCDC88C NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln) SNV Uncertain significance 587522 rs1166585047 GRCh37: 14:91770141-91770141
GRCh38: 14:91303797-91303797
28 CCDC88C NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys) SNV Uncertain significance 930883 GRCh37: 14:91739775-91739775
GRCh38: 14:91273431-91273431
29 overlap with 43 genes GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Uncertain significance 544685 GRCh37: 17:1-2538512
GRCh38:
30 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636) copy number loss Uncertain significance 523310 GRCh37: 14:76105695-76107636
GRCh38:
31 CCDC88C NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) SNV Uncertain significance 447019 rs201414940 GRCh37: 14:91749724-91749724
GRCh38: 14:91283380-91283380
32 CCDC88C NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) SNV Uncertain significance 447015 rs200650758 GRCh37: 14:91779767-91779767
GRCh38: 14:91313423-91313423
33 CCDC88C NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) SNV Uncertain significance 376980 rs200769097 GRCh37: 14:91806262-91806262
GRCh38: 14:91339918-91339918
34 CCDC88C NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) SNV Uncertain significance 634447 rs372168003 GRCh37: 14:91779758-91779758
GRCh38: 14:91313414-91313414
35 CCDC88C NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) SNV Uncertain significance 155879 rs587782989 GRCh37: 14:91787600-91787600
GRCh38: 14:91321256-91321256
36 CCDC88C NM_001080414.4(CCDC88C):c.161+5G>A SNV Uncertain significance 918055 GRCh37: 14:91883077-91883077
GRCh38: 14:91416733-91416733
37 DOCK6 NM_020812.4(DOCK6):c.934C>T (p.His312Tyr) SNV Uncertain significance 374251 rs370838036 GRCh37: 19:11356328-11356328
GRCh38: 19:11245652-11245652
38 KCNT1 NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) SNV Uncertain significance 451447 rs537722828 GRCh37: 9:138660680-138660680
GRCh38: 9:135768834-135768834
39 CCDC88C NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) SNV Uncertain significance 1030084 GRCh37: 14:91766403-91766403
GRCh38: 14:91300059-91300059
40 CCDC88C NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu) SNV Uncertain significance 1033653 GRCh37: 14:91773505-91773505
GRCh38: 14:91307161-91307161
41 CCDC88C NM_001080414.4(CCDC88C):c.3358-5G>A SNV Uncertain significance 1033654 GRCh37: 14:91770327-91770327
GRCh38: 14:91303983-91303983
42 CCDC88C NM_001080414.4(CCDC88C):c.4768+6T>C SNV Uncertain significance 1033655 GRCh37: 14:91745576-91745576
GRCh38: 14:91279232-91279232
43 CCDC88C NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) SNV Uncertain significance 587642 rs142295786 GRCh37: 14:91739805-91739805
GRCh38: 14:91273461-91273461
44 CCDC88C NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) SNV Uncertain significance 444336 rs201940261 GRCh37: 14:91739030-91739030
GRCh38: 14:91272686-91272686
45 CCDC88C NM_001080414.4(CCDC88C):c.1050+9C>T SNV Likely benign 518258 rs372411289 GRCh37: 14:91804340-91804340
GRCh38: 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

Expression for Hydrocephalus, Congenital, 1

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

Pathways for Hydrocephalus, Congenital, 1

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

# Super pathways Score Top Affiliating Genes
1 10.6 SETD2 PLOD1 ALDH7A1

GO Terms for Hydrocephalus, Congenital, 1

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

# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.33 SETD2 MED12 FZD3
2 non-canonical Wnt signaling pathway GO:0035567 9.32 FZD3 CCDC88C
3 post-anal tail morphogenesis GO:0036342 9.26 MED12 FZD3
4 embryonic organ development GO:0048568 9.13 SETD2 MED12 FGFR2
5 cell migration involved in vasculogenesis GO:0035441 8.62 SETD2 PDGFRB

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 WDR37 TMEM92 SETD2 PLOD1 PDGFRB MED12

Sources for Hydrocephalus, Congenital, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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