MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Nails, Malformed (D009264)
..Starting node ..Temple-Baraitser Syndrome (C567516)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..Ameloonychohypohidrotic syndrome (C538245)
..Anonychia congenita (C536377)
..Anonychia onychodystrophy (C536378)
..Anonychia with Flexural Pigmentation (C566278)
..Anonychia, Total, with Microcephaly (C564606)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..Basan syndrome (C537659)
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Cartwright Nelson Fryns syndrome (C535917)
..Curly hair-acral keratoderma-caries syndrome (C536220)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Dermoodontodysplasia (C565103)
..Digitorenocerebral Syndrome (C563052)
..Double Nail for Fifth Toe (C565090)
..Gorlin Bushkell Jensen syndrome (C537289)
..Hereditary koilonychia (C537260)
..Hypospadias-Mental Retardation Syndrome (C563067)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 (OMIM:614157)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
..Oculotrichodysplasia (C564934)
..Onycholysis, Partial, with Scleronychia (C563503)
..Onychotrichodysplasia and neutropenia (C537752)
..Otoonychoperoneal Syndrome (C564912)
..Pili torti onychodysplasia (C537399)
..Pinheiro Freire-Maia Miranda syndrome (C537402)
..Propping Zerres syndrome (C538052)
..Santos Syndrome (C567819)
..Schinzel-Giedion syndrome (C536632)
..Steatocystoma multiplex with natal teeth (C537487)
..Teebi Kaurah syndrome (C536948)
..Temple-Baraitser Syndrome (C567516)
..Toenail Dystrophy, Isolated (C564384)
..Tonoki syndrome (C536967)
..Twenty-Nail Dystrophy (C562907)
..Ulna hypoplasia with mental retardation (C536934)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Witkop syndrome (C536736)
..Yellow Nail Syndrome (D056684) 1
..Zori Stalker Williams syndrome (C536728)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11974

Name:

Temple-Baraitser Syndrome

Definition:

Alternative IDs:

OMIM:611816

ParentIDs:

MESH:D008607|MESH:D009264

TreeNumbers:

C10.597.606.360/C567516 |C23.300.820/C567516 |C23.888.592.604.646/C567516 |F03.625.539/C567516

Synonyms:

Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex |TMBTS

Slim Mappings:

Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C567516
MeSH: C567516
OMIM: 611816;
MSeqDR :
Genes: KCNH1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003593	Infantile onset
4	HP:0012555	Absent nail of hallux
5	HP:0001181	Adducted thumb
6	HP:0010055	Broad hallux
7	HP:0011304	Broad thumb
8	HP:0005280	Depressed nasal bridge
9	HP:0002714	Downturned corners of mouth
10	HP:0000286	Epicanthus
11	HP:0004425	Flat forehead
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay NAMDC: Mental retardation
14	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
15	HP:0000316	Hypertelorism
16	HP:0012553	Hypoplastic thumbnail
17	HP:0006887	Intellectual disability, progressive
18	HP:0010864	Intellectual disability, severe
19	HP:0000343	Long philtrum
20	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
21	HP:0002058	Myopathic facies
22	HP:0009693	Pseudoepiphysis of the thumb
23	HP:0001250	Seizures NAMDC: Seizures
24	HP:0009882	Short distal phalanx of finger
25	HP:0009928	Thick nasal alae
26	HP:0000154	Wide mouth
27	HP:0000445	Wide nose

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	3756	KCNH1	Benign/Likely benign	140939826	RCV000959500\|RCV002505439;	N	MedGen:C3661900\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210856825	210856825	1:g.210856825T>G	-
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)	3756	KCNH1	Uncertain significance	2149000714	RCV002273143;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210856858	210856858	210856858	-
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg)	3756	KCNH1	Conflicting interpretations of pathogenicity	752232888	RCV001581013\|RCV001837020;	N	MedGen:C3661900\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561; MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473	1	210857111	210857111	210857111	-
NM_172362.3(KCNH1):c.2448G>A (p.Ala816=)	3756	KCNH1	Benign/Likely benign	112047226	RCV000878486\|RCV002501355;	N	MedGen:C3661900\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210857145	210857145	1:g.210857145C>T	-
NM_172362.3(KCNH1):c.2265G>C (p.Glu755Asp)	3756	KCNH1	Likely benign	776649794	RCV000850039;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210857328	210857328	1:g.210857328C>G	-
NM_172362.3(KCNH1):c.2206C>G (p.Pro736Ala)	3756	KCNH1	Uncertain significance	1681345673	RCV001330509;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210857387	210857387	210857387	-
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr)	3756	KCNH1	Conflicting interpretations of pathogenicity	140043333	RCV002132119\|RCV003224614\|RCV003025435;	N	MedGen:C3661900\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561; MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473\|MeSH:D030342,MedGen:C0950123	1	210857431	210857431	210857431	-
NM_172362.3(KCNH1):c.2136T>C (p.Asp712=)	3756	KCNH1	Benign	1135317	RCV001645667\|RCV001730897\|RCV001730898;	N	MedGen:C3661900\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473	1	210857457	210857457	210857457	-
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)	3756	KCNH1	Conflicting interpretations of pathogenicity	1349830428	RCV001591724\|RCV001788591;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|MedGen:C3661900	1	210948748	210948748	210948748	-
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe)	3756	KCNH1	Pathogenic	727502820	RCV000149911;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210977425	210977425	1:g.210977425G>A	ClinGen:CA215047,OMIM:603305.0002	C2678486 611816 Temple-Baraitser syndrome;
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg)	3756	KCNH1	Pathogenic	727502821	RCV000149912;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210977463	210977463	1:g.210977463T>C	ClinGen:CA215049,UniProtKB:O95259#VAR_072615,OMIM:603305.0003	C2678486 611816 Temple-Baraitser syndrome;
NM_172362.3(KCNH1):c.1493T>C (p.Val498Ala)	3756	KCNH1	Uncertain significance	2102406845	RCV001706835;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	210977478	210977478	210977478	-
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	3756	KCNH1	Pathogenic/Likely pathogenic	730882175	RCV000190321\|RCV000498687\|RCV000623955\|RCV001420320\|RCV002464134\|RCV002498803;	N	MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735	1	210977485	210977485	NC_000001.10:g.210977485C>T	ClinGen:CA215108,OMIM:603305.0006	C0950123 Inborn genetic diseases;
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	3756	KCNH1	Pathogenic	727502819	RCV000149910\|RCV000185590\|RCV000677640\|RCV001781489;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|M	1	210977491	210977491	1:g.210977491T>C	ClinGen:CA215045,UniProtKB:O95259#VAR_072614,OMIM:603305.0001,OMIM:603305.0005	C2678486 611816 Temple-Baraitser syndrome;
NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr)	3756	KCNH1	Uncertain significance	2102561634	RCV001823512;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561; MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473	1	211093264	211093264	211093264	-
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp)	3756	KCNH1	Pathogenic/Likely pathogenic	2102561827	RCV001984299\|RCV002254215;	N	MedGen:C3661900\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	211093375	211093375	211093375	-
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)	3756	KCNH1	Uncertain significance	1558526097	RCV000714600\|RCV000714601;	N	MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	211093410	211093410	NC_000001.10:g.211093410C>G	-
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)	3756	KCNH1	Pathogenic	727502822	RCV000149913;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	211192506	211192506	1:g.211192506C>G	ClinGen:CA215050,UniProtKB:O95259#VAR_072612,OMIM:603305.0004	C2678486 611816 Temple-Baraitser syndrome;
NM_172362.3(KCNH1):c.338T>C (p.Ile113Thr)	3756	KCNH1	Uncertain significance	2102473134	RCV002254248;	N	MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	211264005	211264005	211264005	-
NM_172362.3(KCNH1):c.80-19dup	3756	KCNH1	Benign/Likely benign	56223346	RCV001528680\|RCV001573628\|RCV002506648;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561	1	211280724	211280725	211280724	-
NM_172362.3(KCNH1):c.80-6del	3756	KCNH1	Benign	56223346	RCV001573193\|RCV001730853\|RCV001727881\|RCV001730854\|RCV002476876;	N	MedGen:C3661900\|MONDO:MONDO:0012735,MedGen:C2678486,OMIM:611816, Orphanet:420561\|MedGen:CN169374\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473\|MONDO:MONDO:0024526,MedGen:C4551773,OMIM:135500, Orphanet:3473; MONDO:MONDO:0012735,MedGen:C26784	1	211280725	211280725	211280724	-

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