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:
expandChromosome Deletion (D002872)
Parent Node:
expandFibromatosis, Gingival (D005351)
Parent Node:
expandHypertrichosis (D006983)
..Starting node
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)

       Child Nodes:



 Sister Nodes: 
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAmaurosis hypertrichosis (C536604)
..expandAmbras syndrome (C536605)
..expandBarber Say syndrome (C537908)
..expandCAHMR syndrome (C537959)
..expandCantu syndrome (C535572)
..expandCervical hypertrichosis neuropathy (C537956)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCongenital hypertrichosis lanuginosa (C538389)
..expandFacial Hypertrichosis (C565029)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandHairy Ears (C562484)
..expandHairy Ears, Y-Linked (C564029)
..expandHairy elbows (C535618)
..expandHairy nose tip (C535619)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..expandHypertrichosis, anterior cervical (C538390)
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandHypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..expandMidphalangeal hair (C537471)
..expandMuller Barth Menger syndrome (C537370)
..expandOliver-McFarlane syndrome (C536554)
..expandRamon Syndrome (C535285)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandWiedemann Grosse Dibbern syndrome (C536704)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5512
Name:Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Definition:
Alternative IDs:OMIM:135400
ParentIDs:MESH:D002872|MESH:D005351|MESH:D006983
TreeNumbers:C07.465.525.304/C565016 |C07.465.714.258.428.200/C565016 |C07.650.525.304/C565016 |C16.131.850.525.304/C565016 |C17.800.329.875/C565016 |C23.550.210.050.500.500/C565016
Synonyms:Chromosome 17q24.2-q24.3 Deletion Syndrome |CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME |Fibromatosis, Gingival, with Hypertrichosis |HTC3 |HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA |HYPERTRICHOSIS TERMINALIS, GENERALIZED,
Slim Mappings:Congenital abnormality|Mouth disease|Pathology (process)|Skin disease
Reference: MedGen: C565016
MeSH: C565016
OMIM: 135400;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000414Bulbous noseHP:0040283
4 HP:0004540Congenital, generalized hypertrichosis
5 HP:0000494Downslanted palpebral fissuresHP:0040283
6 HP:0000286EpicanthusHP:0040283
7 HP:0000169Gingival fibromatosis
8 HP:0001007Hirsutism
9 HP:0000998Hypertrichosis
10 HP:0009928Thick nasal alaeHP:0040283
11 HP:0012810Wide nasal baseHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_018672.4(ABCA5):c.4320+1G>C23461ABCA5Likely pathogenic;Pathogenic199753304RCV000128545; RCV000210729; NGene:100302716,MedGen:C1851120,OMIM:135400,ORPHA:2026; MedGen:C0950123176724993467249934NM_018672.4:c.4320+1G>COMIM Allelic Variant:612503.0001C1851120 135400 Gingival fibromatosis with hypertrichosis; C0950123 Inborn genetic diseases