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 73
Hydrocephaly 57 73 6 39
Ventriculomegaly 57 73 6
Congenital Non-Communicating Hydrocephalus 58 29
Congenital Hydrocephalus 1 29 6
Hyc1 57 73
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly 57
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1 73
Congenital Obstructive Hydrocephalus 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-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-Mar-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 : 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.

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 352)
# 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 27.9 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 with associated malformations 11.3
9 vacterl hydrocephaly 11.2
10 vacterl association with hydrocephaly, x-linked 11.2
11 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.2
12 tenorio syndrome 11.1
13 hydrocephalus with cerebellar agenesis 11.1
14 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 11.0
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 growth retardation hydrocephaly lung hypoplasia 11.0
20 ventriculomegaly with defects of the radius and kidney 11.0
21 hordnes engebretsen knudtson syndrome 11.0
22 enamel hypoplasia cataract hydrocephaly 10.9
23 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.9
24 achondroplasia 10.9
25 combined oxidative phosphorylation deficiency 6 10.9
26 brain malformations with or without urinary tract defects 10.9
27 hydrolethalus syndrome 1 10.9
28 nijmegen breakage syndrome 10.9
29 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.9
30 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
31 hurler syndrome 10.9
32 hurler-scheie syndrome 10.9
33 microphthalmia, syndromic 12 10.9
34 joubert syndrome 9 10.9
35 deafness, dystonia, and cerebral hypomyelination 10.8
36 linear skin defects with multiple congenital anomalies 1 10.8
37 bohring-opitz syndrome 10.8
38 cerebral palsy, spastic quadriplegic, 2 10.8
39 leukoencephalopathy, cystic, without megalencephaly 10.8
40 spinocerebellar ataxia, autosomal recessive 13 10.8
41 smith-kingsmore syndrome 10.8
42 hypotonia, infantile, with psychomotor retardation 10.8
43 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 10.8
44 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 10.8
45 sifrim-hitz-weiss syndrome 10.8
46 alkuraya-kucinskas syndrome 10.8
47 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 10.8
48 neurodevelopmental disorder and language delay with or without structural brain abnormalities 10.8
49 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 10.8
50 cleft palate, proliferative retinopathy, and developmental delay 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-Mar-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
enlarged ventricles
mental retardation
poor motor development

Clinical features from OMIM®:

236600 (Updated 05-Mar-2021)

UMLS symptoms related to Hydrocephalus, Congenital, 1:


seizures

MGI Mouse Phenotypes related to Hydrocephalus, Congenital, 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 ALDH7A1 ARFGEF2 CCDC88C CDK8 DPH1 FGFR2
2 growth/size/body region MP:0005378 10.25 ARFGEF2 ATP1A3 CCDC88C CDK8 DPH1 FGFR2
3 behavior/neurological MP:0005386 10.24 ALDH7A1 ATP1A3 FGFR2 FZD3 KIAA1109 MAGEL2
4 homeostasis/metabolism MP:0005376 10.15 ALDH7A1 ATP1A3 CCDC88C CDK8 DPH1 FGFR2
5 mortality/aging MP:0010768 10.1 ALDH7A1 ARFGEF2 ATP1A3 CDK8 DPH1 FGFR2
6 embryo MP:0005380 10.09 CDK8 DPH1 FGFR2 FZD3 KIAA1109 KIF7
7 craniofacial MP:0005382 10 CDK8 DPH1 FGFR2 KIF7 MED12 PDGFRB
8 limbs/digits/tail MP:0005371 9.92 CDK8 DPH1 FGFR2 FZD3 KIF7 MED12
9 nervous system MP:0003631 9.86 ALDH7A1 ARFGEF2 ATP1A3 CCDC88C CDK8 DPH1
10 muscle MP:0005369 9.7 ATP1A3 FGFR2 KIF7 MAGEL2 NID1 PDGFRB
11 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 706)
# 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
Chromosomal linkage associated with disease severity in the hydrocephalic H-Tx rat. 57
11529267 2001
5
Familial hydrocephalus of prenatal onset. 57
8116668 1994
6
Autosomal recessive hydrocephalus with third ventricle obstruction. 57
2178419 1990
7
Autosomal recessive nonsyndromal hydrocephalus. 57
3232709 1988
8
Inherited prenatal hydrocephalus in the H-Tx rat: a morphological study. 57
3221976 1988
9
Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study. 57
3354602 1988
10
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. 57
3295245 1987
11
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. 57
3950933 1986
12
CONSECUTIVE HYDROCEPHALUS: REPORT OF 2 CASES. 57
14207333 1964
13
The syndrome of sex-linked hydrocephalus. 57
13889295 1961
14
Three hydrocephalic newborns-each of a successive pregnancy of a white female. 57
13768991 1961
15
Congenital hydrocephalus inmonovular twins. 57
13827230 1959
16
[The etiology of congenital hydrocephalus with regard to a case of concordant hydrocephalus in monozygotic twins]. 57
13152349 1953
17
[Familial congenital hydrocephalus]. 57
13019226 1952
18
Surgical management of posterior fossa medulloblastoma in children: The Lyon experience. 61
33482236 2021
19
A case of rapid deterioration in a subacute period after endoscopic third ventriculostomy. 61
33605824 2021
20
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. 61
33415748 2021
21
Bulging fontanel during a measles infection. 61
33489954 2020
22
The Latin American network for congenital malformation surveillance: ReLAMC. 61
33319501 2020
23
Endoscopic treatment of suprasellar arachnoid cysts indenting third ventricle with obstructive hydrocephalus in children: Thirteen cases. 61
33221784 2020
24
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. 61
32333401 2020
25
Mitochondrial AIF loss causes metabolic reprogramming, caspase-independent cell death blockade, embryonic lethality, and perinatal hydrocephalus. 61
32480041 2020
26
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations. 61
33073934 2020
27
Hydrocephaly associated with compound heterozygous alterations in TRAPPC12. 61
32347653 2020
28
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
29
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
30
Propofol-Bispectral Index (BIS) Electroencephalography (EEG) Pharmacokinetic-Pharmacodynamic Model in Patients With Post-Cerebral Hemorrhage Hydrocephalus. 61
32527157 2020
31
Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study. 61
32134219 2020
32
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. 61
31843706 2020
33
Trigeminal root massage in microsurgical treatment of trigeminal neuralgia patients without arterial compression: When, how and why. 61
31668629 2020
34
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
35
Neurodevelopment Outcome of Neonates Treated With Intraventricular Colistin for Ventriculitis Caused by Multiple Drug-Resistant Pathogens-A Case Series. 61
33553063 2020
36
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
37
Incidence of congenital malformations and impact on the mortality of neonatal canines. 61
31442737 2019
38
Evaluation of the effects of quercetin on brain lesions secondary to experimental hydrocephalus in rats. 61
31134338 2019
39
Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects. 61
31856916 2019
40
Life without a brain: Neuroradiological and behavioral evidence of neuroplasticity necessary to sustain brain function in the face of severe hydrocephalus. 61
31712649 2019
41
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
42
Efficacy of ventriculoperitoneal shunting in patients with cryptococcal meningitis with intracranial hypertension. 61
31499210 2019
43
Congenital Anomalies in Children With Cerebral Palsy: A Systematic Review. 61
31208251 2019
44
Combination of fluoride and endosulfan induced teratogenicity and developmental toxicity in Swiss albino mice exposed during organogenesis. 61
31594477 2019
45
[¿Neurodegeneration and poor long-term post-vacuum results in hydrocephaly at idiopathic normal pressure? Contributions by Aragonés et al]. 61
30473206 2019
46
[The role of interventional neuroradiology in treatment of hemorrhagic stroke]. 61
31153680 2019
47
Centrosomal protein FOR20 is essential for cilia-dependent development in zebrafish embryos. 61
30475641 2019
48
Chimeric analysis with newly established EGFP/DsRed2-tagged ES cells identify HYDIN as essential for spermiogenesis in mice. 61
30089752 2019
49
Hydrocephaly Analysis Supported by Computerized Tomography and Nuclear Magnetic Resonance. 61
31662948 2019
50
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly. 61
30260844 2019

Variations for Hydrocephalus, Congenital, 1

ClinVar genetic disease variations for Hydrocephalus, Congenital, 1:

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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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