ZFIN Human Disease: distal arthrogryposis

OBO ID: DOID:0050646

Term Name:	distal arthrogryposis		Search Ontology:
Synonyms:	Arthrogryposis Multiplex Congenita Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Sheldon-Hall syndrome
Definition:	A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://en.wikipedia.org/wiki/Arthrogryposis
References:	GARD:786 OMIM:108120 OMIM:108145 OMIM:108200 OMIM:114300 OMIM:121050 OMIM:121070 OMIM:158300 OMIM:187370 OMIM:193700 OMIM:601680 OMIM:609128 OMIM:614335 OMIM:615065 ORDO:1147 ORDO:97120
Ontology:	Human Disease (DOID:0050646)

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OTHER distal arthrogryposis PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ECEL1	ecel1	Arthrogryposis, distal, type 5D	615065
FBN2	fbn2b fbn2a	Contractural arachnodactyly, congenital	121050
MYBPC1	mybpc1	Arthrogryposis, distal, type 1B	614335
PIEZO2	piezo2b piezo2a.1 piezo2a.2	Arthrogryposis, distal, type 5	108145
		Arthrogryposis, distal, type 3	114300
TNNI2	tnni2b.1 tnni2a.2 tnni2a.3 tnni2b.2 tnni2a.4 tnni2a.1	Arthrogryposis, distal, type 2B1	601680
TPM2	tpm2	Arthrogryposis, distal, type 1A	108120
		Arthrogryposis, distal, type 2B4	108120
MYH3		Arthrogryposis, distal, type 2A (Freeman-Sheldon)	193700
MYH8		Trismus-pseudocamptodactyly syndrome	158300

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT + MO1-mybpc1	standard conditions	Ha et al., 2013
WT + MO1-zbtb42	standard conditions	Patel et al., 2014
WT + MO2-mybpc1	standard conditions	Ha et al., 2013

PHENOTYPE No data available

CITATIONS (4)