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Browse result for Arthrogryposis

※ introduction

    Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (arthron, 'joint'; gr?p¨­sis, late Latin form of late Greek gr¨±p¨­sis, 'hooking'). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic (is a syndrome or part of a syndrome]]. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group.

Reference
Wiki: Arthrogryposis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00202P085814233
MET
Hepatocyte growth factor receptor
Homo sapiens
PTMD03489O956729427
ECEL1
Endothelin-converting enzyme-like 1
Homo sapiens
PTMD03853P079517169
TPM2
Tropomyosin beta chain
Homo sapiens
PTMD04058P110554621
MYH3
Myosin-3
Homo sapiens
PTMD05152P453787140
TNNT3
Troponin T, fast skeletal muscle
Homo sapiens
PTMD06087Q008724604
MYBPC1
Myosin-binding protein C, slow-type
Homo sapiens
PTMD06283Q082095530
PPP3CA
Protein phosphatase 3 catalytic subunit alpha
Homo sapiens
PTMD10357Q8TD1991754
NEK9
Serine/threonine-protein kinase Nek9
Homo sapiens
PTMD10961Q96A3229895
MYL11
Myosin regulatory light chain 11
Homo sapiens