| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00460
|
Hand-foot-genital syndrome
|
Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract.
|
Congenital malformation
|
|
HOXA13 [HSA:3209] [KO:K09298]
|
|
H00727
|
Athabascan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
|
Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac ...
|
Congenital malformation
|
|
HOXA1 [HSA:3198] [KO:K09301]
|
|
H00859
|
Guttmacher syndrome
|
Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs ...
|
Congenital malformation
|
|
HOXA13 [HSA:3209] [KO:K09298]
|
|
H00867
|
Radioulnar synostosis with amegakaryocytic thrombocytopenia
|
... proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.
|
Congenital malformation
|
|
(RUSAT1) HOXA11 [HSA:3207] [KO:K21951]
(RUSAT2) MECOM [HSA:2122] [KO:K04462]
|