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:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandLimb Deformities, Congenital (D017880)
Parent Node:
expandOsteochondrodysplasias (D010009)
Parent Node:
expandPigmentation Disorders (D010859)
..Starting node
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)

       Child Nodes:



 Sister Nodes: 
..expandAcroleukopathy, Symmetric (C566322)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandArgyria (D001129)
..expandBADS Syndrome (C562663)
..expandBasaran Yilmaz syndrome (C537660)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCafe-au-Lait Spots (D019080) Child4
..expandDyschromatosis symmetrica hereditaria 1 (C535729)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandElejalde Disease (C536203)
..expandFLOTCH syndrome (C537065)
..expandGraying of Hair, Precocious (C564209)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 3 (C537303)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHeterochromia iridis (C538115)
..expandHyperpigmentation (D017495) Child30
..expandHypopigmentation (D017496) Child49
..expandIncontinentia Pigmenti (D007184) Child2
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMacules hereditary congenital hypopigmented and hyperpigmented (C537836)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandPeeling skin syndrome, acral type (C536316)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPigmented purpuric eruption (C537186)
..expandPropping Zerres syndrome (C538052)
..expandRed skin pigment anomaly of New Guinea (C535515)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandSpastic paraplegia 23 (C536859)
..expandTang Hsi Ryu syndrome (C536897)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandUrticaria Pigmentosa (D014582)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWhite forelock with malformations (C536700)
..expandWhyte Murphy syndrome (C536054)
..expandXeroderma Pigmentosum (D014983) Child16
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10930
Name:Terminal Osseous Dysplasia and Pigmentary Defects
Definition:
Alternative IDs:
ParentIDs:MESH:D010009|MESH:D010859|MESH:D017880|MESH:D040181
TreeNumbers:C05.116.099.708/C564554 |C05.660.585/C564554 |C16.131.621.585/C564554 |C16.320.322/C564554 |C17.800.621/C564554
Synonyms:Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C564554
MeSH: C564554
OMIM: 300244;

Genes: FLNA;
Phenotypes
1 HP:0010675Abnormal foot bone ossification
2 HP:0010660Abnormal hand bone ossification
3 HP:0000190Abnormal oral frenulum morphology
4 HP:0001000Abnormality of skin pigmentation
5 HP:0001156Brachydactyly
6 HP:0100490Camptodactyly of finger
7 HP:0001836Camptodactyly of toe
8 HP:0010614Fibroma
9 HP:0000316Hypertelorism
10 HP:0000612Iris coloboma
11 HP:0011355Localized skin lesion
12 HP:0000369Low-set ears
13 HP:0000272Malar flattening
14 HP:0005011Mesomelic arm shorteningHP:0040283
15 HP:0004987Mesomelic leg shorteningHP:0040283
16 HP:0002828Multiple joint contractures
17 HP:0000508Ptosis
18 HP:0001831Short toe
19 HP:0001863Toe clinodactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001110556.1(FLNA):c.5217G>A (p.Thr1739=)2316FLNAPathogenic387907371RCV000012542; NGene:54114,MedGen:C1846129,OMIM:300244,ORPHA:88630X153583193153583193NM_001110556.1:c.5217G>ANP_001104026.1:p.Thr1739=NC_000023.10:g.153583193C>TOMIM Allelic Variant:300017.0029C1846129 300244 Terminal osseous dysplasia