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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

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: Craniosynostoses (D003398)
Parent Node: Foot Deformities, Congenital (D005532)
..Starting node ..Jackson-Weiss syndrome (C537559)
Child Nodes:
Sister Nodes:
..Acheiropodia (C536014)
..Acrootoocular Syndrome (C564866)
..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY, TYPE E2 (OMIM:613382)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Camptosynpolydactyly, Complex (C564383)
..CAPOS syndrome (C535351)
..Charcot-Marie-Tooth Disease, Foot Deformity of (C564179)
..Cleft Palate, Deafness, and Oligodontia (C565844)
..Clubfoot (D003025) 9
..Craniosynostosis, Adelaide Type (C563471)
..Daneman Davy Mancer syndrome (C535986)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Digitotalar Dysmorphism (C565097)
..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..Eiken Skeletal Dysplasia (C564010)
..Fairbank disease (C536393)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Frias syndrome (C535639)
..Fried Goldberg Mundel syndrome (C535640)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Fuhrmann syndrome (C538189)
..Game Friedman Paradice syndrome (C535406)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hairy palms and soles (C535620)
..Hand foot uterus syndrome (C535627)
..Jackson-Weiss syndrome (C537559)
..Johnson Munson syndrome (C535881)
..Laurin-Sandrow syndrome (C535689)
..Macrodactyly of the foot (C537719)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..Metatarsus Varus, Type I (C563585)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..Mononen Karnes Senac syndrome (C535914)
..Monophalangy of Great Toe (C563570)
..Nicolaides Baraitser syndrome (C536116)
..NOG-Related-Symphalangism Spectrum Disorder (C536943)
..Oculodentodigital Dysplasia (C563160)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oslam syndrome (C537138)
..Pfeiffer Tietze Welte syndrome (C537891)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Radial defect Robin sequence (C536261)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Ray Peterson Scott syndrome (C535292)
..Richieri Costa Guion-Almeida syndrome (C535676)
..Sandhaus Ben-Ami syndrome (C537233)
..Second Metatarsal-Metacarpal Syndrome (C564824)
..Split hand split foot nystagmus (C537319)
..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647)
..Stoll Alembik Dott syndrome (C537497)
..Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
..Symphalangism, Distal (C566099) 1
..Synpolydactyly 2 (C564278)
..Synpolydactyly With Foot Anomalies (C566095)
..Talonavicular coalition (C536895)
..Teebi syndrome (C536951)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Trichorhinophalangeal Syndrome, Type III (C566033)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Vertical talus, congenital (C536345)
..Zechi-Ceide Syndrome (C567865)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5935

Name:

Jackson-Weiss syndrome

Definition:

Alternative IDs:

OMIM:123150

ParentIDs:

MESH:D003398|MESH:D005532

TreeNumbers:

C05.116.099.370.894.232/C537559 |C05.330.495/C537559 |C05.660.207.240/C537559 |C05.660.207.707.249/C537559 |C05.660.585.512.380/C537559 |C05.660.906.364/C537559 |C16.131.621.207.240/C537559 |C16.131.621.207.707.249/C537559 |C16.131.621.585.380/C537559 |C16.131.62

Synonyms:

Acrocephalosyndactyly Jackson Weiss type |Craniosynostosis, midfacial hypoplasia, and foot abnormalities |Enlarged great toes and craniofacial abnormalities |JWS

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C537559
MeSH: C537559
OMIM: 123150;

Genes: FGFR1; FGFR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0010055	Broad hallux
4	HP:0001783	Broad metatarsal
5	HP:0008122	Calcaneonavicular fusion
6	HP:0001363	Craniosynostosis
7	HP:0008080	Hallux varus
8	HP:0000272	Malar flattening
9	HP:0011800	Midface retrusion
10	HP:0010743	Short metatarsal

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_023110.2(FGFR1):c.755C>G (p.Pro252Arg)	2260	FGFR1	Pathogenic	121909627	RCV000017669; RCV000017670;	Y	MedGen:C0795998,OMIM:123150,ORPHA:1540; MedGen:C1863356,OMIM:101600	8	38282208	38282208	NM_023110.2:c.755C>G	NP_075598.2:p.Pro252Arg	NC_000008.10:g.38282208G>C	OMIM Allelic Variant:136350.0001	C0795998 123150 Jackson-Weiss syndrome; C1863356 101600 Pfeiffer syndrome
NM_000141.4(FGFR2):c.1031C>G (p.Ala344Gly)	2263	FGFR2	Pathogenic	121918492	RCV000014188; RCV000014187;	N	MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C0795998,OMIM:123150,ORPHA:1540	10	123276886	123276886	NM_000141.4:c.1031C>G	NP_000132.3:p.Ala344Gly	NC_000010.10:g.123276886G>C	OMIM Allelic Variant:176943.0007	C0010273 123500 Crouzon syndrome; C0795998 123150 Jackson-Weiss syndrome
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg)	2263	FGFR2	Pathogenic	121918488	RCV000014177; RCV000014178; RCV000014179; RCV000014180;	N	MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C0795998,OMIM:123150,ORPHA:1540; MedGen:C1863356,OMIM:101600; MedGen:C2936791,OMIM:207410	10	123276893	123276893	NM_000141.4:c.1024T>C	NP_000132.3:p.Cys342Arg	NC_000010.10:g.123276893A>G,NC_000010.10:g.123276893A>T	OMIM Allelic Variant:176943.0002	C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; C0010273 123500 Crouzon syndrome; C0795998 123150 Jackson-Weiss syndrome; C1863356 101600 Pfeiffer syndrome
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser)	2263	FGFR2	Pathogenic	121918488	RCV000014181; RCV000014182; RCV000014183;	N	MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C0795998,OMIM:123150,ORPHA:1540; MedGen:C2936791,OMIM:207410	10	123276893	123276893	NM_000141.4:c.1024T>A	NP_000132.3:p.Cys342Ser	NC_000010.10:g.123276893A>G,NC_000010.10:g.123276893A>T	OMIM Allelic Variant:176943.0003	C2936791 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; C0010273 123500 Crouzon syndrome; C0795998 123150 Jackson-Weiss syndrome
NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro)	2263	FGFR2	Pathogenic	121918497	RCV000014196; RCV000014197;	N	MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C0795998,OMIM:123150,ORPHA:1540	10	123279566	123279566	NM_000141.4:c.866A>C	NP_000132.3:p.Gln289Pro	NC_000010.10:g.123279566T>G	OMIM Allelic Variant:176943.0014	C0010273 123500 Crouzon syndrome; C0795998 123150 Jackson-Weiss syndrome