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:
expandIntellectual Disability (D008607)
Parent Node:
expandNails, Malformed (D009264)
..Starting node
..expandTemple-Baraitser Syndrome (C567516)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia universalis onychodystrophy vitiligo (C537056)
..expandAmeloonychohypohidrotic syndrome (C538245)
..expandAnonychia congenita (C536377)
..expandAnonychia onychodystrophy (C536378)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAnonychia-Ectrodactyly (C566277)
..expandAnonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..expandBasan syndrome (C537659)
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCurly hair-acral keratoderma-caries syndrome (C536220)
..expandCurly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..expandDeafness enamel hypoplasia nail defects (C535994)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDermoodontodysplasia (C565103)
..expandDigitorenocerebral Syndrome (C563052)
..expandDouble Nail for Fifth Toe (C565090)
..expandGorlin Bushkell Jensen syndrome (C537289)
..expandHereditary koilonychia (C537260)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..expandNAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
..expandOculotrichodysplasia (C564934)
..expandOnycholysis, Partial, with Scleronychia (C563503)
..expandOnychotrichodysplasia and neutropenia (C537752)
..expandOtoonychoperoneal Syndrome (C564912)
..expandPili torti onychodysplasia (C537399)
..expandPinheiro Freire-Maia Miranda syndrome (C537402)
..expandPropping Zerres syndrome (C538052)
..expandSantos Syndrome (C567819)
..expandSchinzel-Giedion syndrome (C536632)
..expandSteatocystoma multiplex with natal teeth (C537487)
..expandTeebi Kaurah syndrome (C536948)
..expandTemple-Baraitser Syndrome (C567516)
..expandToenail Dystrophy, Isolated (C564384)
..expandTonoki syndrome (C536967)
..expandTwenty-Nail Dystrophy (C562907)
..expandUlna hypoplasia with mental retardation (C536934)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandWitkop syndrome (C536736)
..expandYellow Nail Syndrome (D056684) Child1
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10908
Name:Temple-Baraitser Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009264
TreeNumbers:C10.597.606.643/C567516 |C23.300.820/C567516 |C23.888.592.604.646/C567516 |F03.550.600/C567516
Synonyms:Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex
Slim Mappings:Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C567516
MeSH: C567516
OMIM: 611816;

Genes: KCNH1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0012555Absent nail of hallux
5 HP:0001181Adducted thumb
6 HP:0010055Broad hallux
7 HP:0011304Broad thumb
8 HP:0005280Depressed nasal bridge
9 HP:0002714Downturned corners of mouth
10 HP:0000286Epicanthus
11 HP:0004425Flat forehead
12 HP:0001290Generalized hypotonia
13 HP:0001263Global developmental delay
14 HP:0000316Hypertelorism
15 HP:0012553Hypoplastic thumbnail
16 HP:0001252Hypotonia
17 HP:0006887Intellectual disability, progressive
18 HP:0010864Intellectual disability, severe
19 HP:0000343Long philtrum
20 HP:0002058Myopathic facies
21 HP:0009693Pseudoepiphysis of the thumb
22 HP:0001250Seizure
23 HP:0009882Short distal phalanx of finger
24 HP:0009928Thick nasal alae
25 HP:0000154Wide mouth
26 HP:0000445Wide nose
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_172362.2(KCNH1):c.1546C>T (p.Leu516Phe)3756KCNH1Pathogenic727502820RCV000149911; NMedGen:C2678486,OMIM:6118161210977425210977425NM_172362.2:c.1546C>TNP_758872.1:p.Leu516PheNC_000001.10:g.210977425G>AOMIM Allelic Variant:603305.0002C2678486 611816 Temple-Baraitser syndrome
NM_172362.2(KCNH1):c.1508A>G (p.Gln503Arg)3756KCNH1Pathogenic727502821RCV000149912; NMedGen:C2678486,OMIM:6118161210977463210977463NM_172362.2:c.1508A>GNP_758872.1:p.Gln503ArgNC_000001.10:g.210977463T>COMIM Allelic Variant:603305.0003C2678486 611816 Temple-Baraitser syndrome
NM_002238.3(KCNH1):c.1399A>G (p.Ile467Val)3756KCNH1Pathogenic727502819RCV000149910; RCV000185590; NGene:353173,MedGen:CN032818,OMIM:135500; MedGen:C2678486,OMIM:6118161210977491210977491NM_002238.3:c.1399A>GNP_002229.1:p.Ile467ValNC_000001.10:g.210977491T>COMIM Allelic Variant:603305.0001,OMIM Allelic Variant:603305.0005C2678486 611816 Temple-Baraitser syndrome; CN032818 135500 Zimmermann-Laband syndrome 1
NM_172362.2(KCNH1):c.651G>C (p.Lys217Asn)3756KCNH1Pathogenic727502822RCV000149913; NMedGen:C2678486,OMIM:6118161211192506211192506NM_172362.2:c.651G>CNP_758872.1:p.Lys217AsnNC_000001.10:g.211192506C>GOMIM Allelic Variant:603305.0004C2678486 611816 Temple-Baraitser syndrome