Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrain Diseases (D001927)
Parent Node:
expandIntracranial Hypertension (D019586)
..Starting node
..expandHydrocephalus (D006849)

       Child Nodes:
........expandAase Smith syndrome (C535332)
........expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
........expandBaker Vinters syndrome (C537899)
........expandBeemer Ertbruggen syndrome (C537668)
........expandBor-Duane hydrocephalus contiguous gene syndrome (C536574)
........expandClark-Baraitser syndrome (C536208)
........expandCole Carpenter syndrome (C535963)
........expandCystic Kidney Disease with Ventriculomegaly (C565657)
........expandDaentl Towsend Siegel syndrome (C535768)
........expandDaish Hardman Lamont syndrome (C535770)
........expandDandy-Walker Syndrome (D003616) Child13
........expandEdinburgh Malformation Syndrome (C563051)
........expandEnamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
........expandGame Friedman Paradice syndrome (C535406)
........expandHydrocephalus With Cerebellar Agenesis (C564407)
........expandHydrocephalus, Autosomal Dominant (C563973)
........expandHydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
........expandHydrocephalus, Normal Pressure (D006850) Child1
........expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
........expandHydrocephalus, X-linked (C536078)
........expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
........expandHydrolethalus syndrome (C536079)
........expandHydrolethalus Syndrome 1 (C565504)
........expandIris dysplasia hypertelorism deafness (C535537)
........expandKozlowski Brown Hardwick syndrome (C537506)
........expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
........expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
........expandPalmer Pagon syndrome (C538107)
........expandRadius absent anogenital anomalies (C535281)
........expandSchwartz Cohen-Addad Lambert syndrome (C535835)
........expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
........expandVACTERL Association With Hydrocephalus (C564751)
........expandVACTERL association with hydrocephaly, X-linked (C536520)
........expandVACTERL hydrocephaly (C536521)
........expandVater Association With Hydrocephalus (C564752)
........expandVentriculomegaly With Defects Of The Radius And Kidney (C566565)
........expandWaaler Aarskog syndrome (C536461)
........expandYim Ebbin syndrome (C536713)



 Sister Nodes: 
..expandHydrocephalus (D006849) Child52
..expandHypertensive Encephalopathy (D020343) Child1
..expandPseudotumor Cerebri (D011559) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5305
Name:Hydrocephalus
Definition:Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
Alternative IDs:OMIM:236600
ParentIDs:MESH:D001927|MESH:D019586
TreeNumbers:C10.228.140.602 |C10.228.140.631.450
Synonyms:Aqueductal Stenoses |Aqueductal Stenosis |Cerebral Ventriculomegalies |Cerebral Ventriculomegalies, Fetal |Cerebral Ventriculomegaly |Cerebral Ventriculomegaly, Fetal |Communicating Hydrocephalus |Congenital Hydrocephalus |Fetal Cerebral Ventriculomegalies |Fetal
Slim Mappings:Nervous system disease
Reference: MedGen: D006849
MeSH: D006849
OMIM: 236600;

Genes: CCDC88C;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0000238Hydrocephalus
4 HP:0001249Intellectual disability
5 HP:0001250Seizure
6 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001080414.3(CCDC88C):c.5980C>G (p.Arg1994Gly)440193CCDC88CUncertain significance45560241RCV000145448; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149173907691739076NM_001080414.3:c.5980C>GNP_001073883.2:p.Arg1994GlyNC_000014.8:g.91739076G>C-C0020255 236600 Hydrocephalus
NM_001080414.3(CCDC88C):c.5841_5842delAG (p.Glu1949Glyfs)440193CCDC88CPathogenic387907321RCV000033089; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149173921491739215NM_001080414.3:c.5841_5842delAGNP_001073883.2:p.Glu1949GlyfsNC_000014.8:g.91739214_91739215delCTOMIM Allelic Variant:611204.0003C0020255 236600 Hydrocephalus
NM_001080414.3(CCDC88C):c.5058+1G>A440193CCDC88CPathogenic387907320RCV000033087; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149174426591744265NM_001080414.3:c.5058+1G>ANC_000014.8:g.91744265C>TOMIM Allelic Variant:611204.0001C0020255 236600 Hydrocephalus
NM_001080414.3(CCDC88C):c.4621C>T (p.Arg1541Cys)440193CCDC88CUncertain significance151102993RCV000145442; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149174968291749682NM_001080414.3:c.4621C>TNP_001073883.2:p.Arg1541CysNC_000014.8:g.91749682G>A-C0020255 236600 Hydrocephalus
NM_001080414.3(CCDC88C):c.934C>T (p.Arg312Ter)440193CCDC88CPathogenic369384363RCV000033088; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149180446591804465NM_001080414.3:c.934C>TNP_001073883.2:p.Arg312TerNC_000014.8:g.91804465G>AOMIM Allelic Variant:611204.0002C0020255 236600 Hydrocephalus
NM_001080414.3(CCDC88C):c.912C>T (p.Asp304=)440193CCDC88CUncertain significance61736349RCV000145457; NMedGen:C0020255,OMIM:236600,SNOMED CT:230745008149180448791804487NM_001080414.3:c.912C>TNP_001073883.2:p.Asp304=NC_000014.8:g.91804487G>A-C0020255 236600 Hydrocephalus