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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: Arthrogryposis (D001176)
..Starting node ..Distal arthrogryposis type 2B (C538400)
Child Nodes:
Sister Nodes:
..Arthrogryposis and ectodermal dysplasia (C537441)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Arthrogryposis multiplex congenita neurogenic type (C536614)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis multiplex congenita, distal type 1 (C535378)
..Arthrogryposis multiplex congenita, distal type 2 (C535379)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
..Arthrogryposis, Distal, Type 10 (C566069)
..ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
..Arthrogryposis, distal, type 2E (C535384)
..Arthrogryposis, Distal, Type 4 (C563791)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Boylan Dew Greco syndrome (C537083)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Camptodactyly-ichthyosis syndrome (C537976)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Contractures ectodermal dysplasia cleft lip palate (C535465)
..Cyprus facial neuromusculoskeletal syndrome (C536229)
..Distal arthrogryposis Moore Weaver type (C536814)
..Distal arthrogryposis type 2B (C538400)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..German Syndrome (C562543)
..Gordon syndrome (C537288)
..Hecht syndrome (C535857)
..Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Johnston Aarons Schelley syndrome (C535883)
..Kuskokwim disease (C538124)
..Ladda Zonana Ramer syndrome (C538135)
..Lethal Arthrogryposis With Anterior Horn Cell Disease (C567502)
..Lethal congenital contracture syndrome 1 (C537194)
..Lethal Congenital Contracture Syndrome 2 (C564369)
..Massa Casaer Ceulemans syndrome (C536031)
..Minicore myopathy, antenatal onset, with arthrogryposis (C537474)
..Multiple Pterygium Syndrome, Autosomal Dominant (C566739)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Neuropathy, congenital, with arthrogryposis multiplex (C535714)
..Oculomelic amyoplasia (C537737)
..Pelvic dysplasia arthrogryposis of lower limbs (C535548)
..Pena Shokeir syndrome, type 1 (C536647)
..Podder-Tolmie syndrome (C537518)
..Ray Peterson Scott syndrome (C535292)
..Spondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..Spranger Schinzel Myers syndrome (C535801)
..Tomaculous neuropathy (C536965)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3413

Name:

Distal arthrogryposis type 2B

Definition:

Alternative IDs:

OMIM:601680

ParentIDs:

MESH:D001176

TreeNumbers:

C05.550.150/C538400 |C05.651.102/C538400 |C05.660.077/C538400 |C16.131.621.077/C538400

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C538400
MeSH: C538400
OMIM: 601680;

Genes: MYH3; TNNI2; TNNT3; TPM2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000598	Abnormality of the ear
3	HP:0006109	Absent phalangeal crease
4	HP:0002804	Arthrogryposis multiplex congenita
5	HP:0001848	Calcaneovalgus deformity
6	HP:0100490	Camptodactyly of finger
7	HP:0005684	Distal arthrogryposis
8	HP:0000494	Downslanted palpebral fissures
9	HP:0000218	High palate
10	HP:0000343	Long philtrum
11	HP:0000303	Mandibular prognathia
12	HP:0001840	Metatarsus adductus
13	HP:0000347	Micrognathia
14	HP:0000160	Narrow mouth
15	HP:0005272	Prominent nasolabial fold
16	HP:0001838	Rocker bottom foot
17	HP:0002650	Scoliosis
18	HP:0004322	Short stature
19	HP:0001762	Talipes equinovarus
20	HP:0000325	Triangular face
21	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
22	HP:0003049	Ulnar deviation of the wrist
23	HP:0000465	Webbed neck
24	HP:0000431	Wide nasal bridge

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_002470.3(MYH3):c.1385A>G (p.Asp462Gly)	4621	MYH3	Pathogenic	121913622	RCV000015207;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147	17	10547693	10547693	NM_002470.3:c.1385A>G	NP_002461.2:p.Asp462Gly	NC_000017.10:g.10547693T>C	OMIM Allelic Variant:160720.0007	C1834523 601680 Distal arthrogryposis type 2B
NM_002470.3(MYH3):c.1123G>A (p.Glu375Lys)	4621	MYH3	Pathogenic	121913621	RCV000015206;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147	17	10549042	10549042	NM_002470.3:c.1123G>A	NP_002461.2:p.Glu375Lys	NC_000017.10:g.10549042C>T	OMIM Allelic Variant:160720.0006	C1834523 601680 Distal arthrogryposis type 2B
NM_002470.3(MYH3):c.700G>A (p.Ala234Thr)	4621	MYH3	Pathogenic	121913623	RCV000015208;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147	17	10551909	10551909	NM_002470.3:c.700G>A	NP_002461.2:p.Ala234Thr	NC_000017.10:g.10551909C>T	OMIM Allelic Variant:160720.0008	C1834523 601680 Distal arthrogryposis type 2B
NM_002470.3(MYH3):c.533C>T (p.Thr178Ile)	4621	MYH3	Pathogenic	121913619	RCV000015203; RCV000015202;	N	MedGen:C0265224,OMIM:193700,ORPHA:2053,SNOMED CT:52616002; MedGen:C1834523,OMIM:601680,ORPHA:1147	17	10553691	10553691	NM_002470.3:c.533C>T	NP_002461.2:p.Thr178Ile	NC_000017.10:g.10553691G>A	OMIM Allelic Variant:160720.0003	C1834523 601680 Distal arthrogryposis type 2B; C0265224 193700 Freeman-Sheldon syndrome
NM_003282.3(TNNI2):c.466C>T (p.Arg156Ter)	7136	TNNI2	Pathogenic	104894312	RCV000013249; RCV000128665;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809	11	1862698	1862698	NM_003282.3:c.466C>T	NP_003273.1:p.Arg156Ter	NC_000011.9:g.1862698C>T	OMIM Allelic Variant:191043.0002	C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided
NM_003282.3(TNNI2):c.499_501delGAG (p.Glu167del)	7136	TNNI2	Pathogenic	199474800	RCV000013252; RCV000128666;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809	11	1862731	1862733	NM_003282.3:c.499_501delGAG	NP_003273.1:p.Glu167del	NC_000011.9:g.1862731_1862733delGAG	OMIM Allelic Variant:191043.0005	C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided
NM_003282.3(TNNI2):c.521G>A (p.Arg174Gln)	7136	TNNI2	Pathogenic	104894311	RCV000013248; RCV000128667;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809	11	1862753	1862753	NM_003282.3:c.521G>A	NP_003273.1:p.Arg174Gln	NC_000011.9:g.1862753G>A	OMIM Allelic Variant:191043.0001	C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided
NM_003282.3(TNNI2):c.525G>T (p.Lys175Asn)	7136	TNNI2	Likely pathogenic	797046046	RCV000193314;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147	11	1862757	1862757	NM_003282.3:c.525G>T	NP_003273.1:p.Lys175Asn	NC_000011.9:g.1862757G>T	-	C1834523 601680 Distal arthrogryposis type 2B
NM_003282.3(TNNI2):c.527_529delAGA (p.Lys176del)	7136	TNNI2	Pathogenic	199474801	RCV000013251; RCV000128668;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809	11	1862759	1862761	NM_003282.3:c.527_529delAGA	NP_003273.1:p.Lys176del	NC_000011.9:g.1862759_1862761delAGA	OMIM Allelic Variant:191043.0004	C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided
NM_006757.3(TNNT3):c.188G>A (p.Arg63His)	7140	TNNT3	Pathogenic	121434638	RCV000009468; RCV000024561; RCV000194919;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809; MedGen:CN233042	11	1954967	1954967	NM_006757.3:c.188G>A	NP_006748.1:p.Arg63His	NC_000011.9:g.1954967G>A	Leiden Muscular Dystrophy pages (TNNT3):TNNT3_00001,OMIM Allelic Variant:600692.0001	CN233042 Arthyrgryposis, distal, type 2B; C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided
NM_003289.3(TPM2):c.397C>T (p.Arg133Trp)	7169	TPM2	Pathogenic	137853305	RCV000013279; RCV000128682;	N	MedGen:C1834523,OMIM:601680,ORPHA:1147; MedGen:CN221809	9	35685526	35685526	NM_003289.3:c.397C>T	NP_003280.2:p.Arg133Trp	NC_000009.11:g.35685526G>A	OMIM Allelic Variant:190990.0004	C1834523 601680 Distal arthrogryposis type 2B; CN221809 not provided