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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

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: Abnormalities, Multiple (D000015)
Parent Node: Musculoskeletal Diseases (D009140)
Parent Node: Scoliosis (D012600)
Parent Node: Synostosis (D013580)
..Starting node ..Spondylocarpotarsal synostosis (C535780)
Child Nodes:
Sister Nodes:
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Banki Syndrome (C566228)
..Coronal synostosis, syndactyly and jejunal atresia (C536445)
..Craniosynostoses (D003398) 64
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Humeroradial Multiple Synostosis Syndrome (C565509)
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Jorgenson Lenz syndrome (C536292)
..Mesomelia-synostoses syndrome (C537348)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Multiple synostoses syndrome 2 (C537380)
..Multiple Synostoses Syndrome 3 (C567839)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Patella aplasia, coxa vara, tarsal synostosis (C536307)
..Prata Libéral Gonçalves syndrome (C538277)
..Radioulnar Synostosis (C562408)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Ramer Ladda syndrome (C535284)
..Spondylocarpotarsal synostosis (C535780)
..Symphalangism of Toes (C566101)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Syndactyly (D013576) 69
..Synostoses, tarsal, carpal, and digital (C538156)
..Synostosis of Talus and Calcaneus with Short Stature (C566089)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Tsukahara Syndrome (C566376)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10568

Name:

Spondylocarpotarsal synostosis

Definition:

Alternative IDs:

OMIM:272460

ParentIDs:

MESH:D000015|MESH:D009140|MESH:D012600|MESH:D013580

TreeNumbers:

C05.116.099.370.894/C535780 |C05.116.900.800.875/C535780 |C05.660.906/C535780 |C05/C535780 |C16.131.077/C535780 |C16.131.621.906/C535780

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535780
MeSH: C535780
OMIM: 272460;

Genes: FLNB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002644	Abnormality of pelvic girdle bone morphology
3	HP:0007703	Abnormality of retinal pigmentation	HP:0040284
4	HP:0003305	Block vertebrae
5	HP:0000283	Broad face
6	HP:0000455	Broad nasal tip
7	HP:0008456	C2-C3 subluxation
8	HP:0001241	Capitate-hamate fusion
9	HP:0009702	Carpal synostosis
10	HP:0000518	Cataract
11	HP:0000175	Cleft palate
12	HP:0004209	Clinodactyly of the 5th finger
13	HP:0002750	Delayed skeletal maturation
14	HP:0003521	Disproportionate short-trunk short stature
15	HP:0006297	Enamel hypoplasia
16	HP:0002656	Epiphyseal dysplasia
17	HP:0003307	Hyperlordosis
18	HP:0000316	Hypertelorism
19	HP:0003311	Hypoplasia of the odontoid process
20	HP:0000410	Mixed hearing impairment
21	HP:0001763	Pes planus
22	HP:0000384	Preauricular skin tag
23	HP:0000107	Renal cyst
24	HP:0002091	Restrictive ventilatory defect
25	HP:0002650	Scoliosis
26	HP:0000407	Sensorineural hearing impairment
27	HP:0000470	Short neck
28	HP:0003196	Short nose
29	HP:0008368	Tarsal synostosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001457.3(FLNB):c.7029T>G (p.Tyr2343Ter)	-1	-	Pathogenic	80356518	RCV000020460;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58148888	58148888	NM_001457.3:c.7029T>G	NP_001448.2:p.Tyr2343Ter	NC_000003.11:g.58148888T>G	-	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.1945C>T (p.Arg649Ter)	2317	FLNB	Pathogenic	80356517	RCV000020443;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58094188	58094188	NM_001457.3:c.1945C>T	NP_001448.2:p.Arg649Ter	NC_000003.11:g.58094188C>T	-	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.2452C>T (p.Arg818Ter)	2317	FLNB	Pathogenic	80356519	RCV000006768;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58095865	58095865	NM_001457.3:c.2452C>T	NP_001448.2:p.Arg818Ter	NC_000003.11:g.58095865C>T	OMIM Allelic Variant:603381.0002	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.4819C>T (p.Arg1607Ter)	2317	FLNB	Pathogenic	80356520	RCV000006769;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58121853	58121853	NM_001457.3:c.4819C>T	NP_001448.2:p.Arg1607Ter	NC_000003.11:g.58121853C>T	OMIM Allelic Variant:603381.0003	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.5548G>T (p.Gly1850Ter)	2317	FLNB	Pathogenic	121908898	RCV000006777;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58131770	58131770	NM_001457.3:c.5548G>T	NP_001448.2:p.Gly1850Ter	NC_000003.11:g.58131770G>T	OMIM Allelic Variant:603381.0014	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.6010C>T (p.Arg2004Ter)	2317	FLNB	Pathogenic	121908897	RCV000006776;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58134498	58134498	NM_001457.3:c.6010C>T	NP_001448.2:p.Arg2004Ter	NC_000003.11:g.58134498C>T	OMIM Allelic Variant:603381.0013	C1848934 272460 Spondylocarpotarsal synostosis syndrome
NM_001457.3(FLNB):c.6408delC (p.Ser2137Leufs)	2317	FLNB	Pathogenic	80356521	RCV000006767;	N	MedGen:C1848934,OMIM:272460,ORPHA:3275	3	58139142	58139142	NM_001457.3:c.6408delC	NP_001448.2:p.Ser2137Leufs	NC_000003.11:g.58139142delC	OMIM Allelic Variant:603381.0001	C1848934 272460 Spondylocarpotarsal synostosis syndrome