| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00871
|
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
|
... and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS).
|
Inherited metabolic disorder, Mitochondrial disease
|
|
DARS2 [HSA:55157] [KO:K01876]
|
|
H01497
|
Temtamy preaxial brachydactyly syndrome
|
Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis ...
|
Congenital malformation
|
|
CHSY1 [HSA:22856] [KO:K13499]
|
|
H02273
|
Nonprogressive cerebellar ataxia with mental retardation
|
... of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.
|
Nervous system disease
|
|
CAMTA1 [HSA:23261] [KO:K21596]
|
|
H02735
|
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
|
... syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in ...
|
Congenital malformation
|
|
MTAP [HSA:4507] [KO:K00772]
|