Search Result

 Top
1 to 3 of 3
Entry Name Description Category Pathway Gene
H00811 Distal arthrogryposis Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA ... Congenital malformation (DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA1C) MYL11 [HSA:29895] [KO:K12758]
(DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220]
(DA2B1) TNNI2 [HSA:7136] [KO:K12043]
(DA2B2) TNNT3 [HSA:7140] [KO:K12046]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K24220]
(DA9) FBN2 [HSA:2201] [KO:K23342]
(DA11) MET [HSA:4233] [KO:K05099]
(DA12) ADAMTS15 [HSA:170689] [KO:K08629]
H00872 Trismus-pseudocamptodactyly syndrome
Hecht-Beals syndrome
Dutch-Kentucky syndrome 		Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly ... Congenital malformation MYH8 [HSA:4626] [KO:K24220]
H01820 Carney complex Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations ... Endocrine and metabolic disease PRKAR1A [HSA:5573] [KO:K04739]
MYH8 [HSA:4626] [KO:K24220]
1 to 3 of 3
[ KEGG | DISEASE | DRUG | MEDICUS ]