MCID: PRD028
MIFTS: 15
|
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
|
|
Aliases & Classifications for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of...
MalaCards integrated aliases for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15:
Name: Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15
59
Characteristics:Orphanet epidemiological data:59
prader-willi syndrome due to maternal uniparental disomy of chromosome 15
Age of onset: Adolescent,Adult; Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
ICD10:
34
Orphanet: 59
![]() ![]() ![]() ![]() ![]() External Ids:
|
MalaCards based summary
:
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15, also known as upd(15)mat, is related to prader-willi syndrome and prader-willi syndrome due to imprinting mutation. An important gene associated with Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 is OCA2 (OCA2 Melanosomal Transmembrane Protein). Related phenotypes are behavior/neurological and adipose tissue
|
MGI Mouse Phenotypes related to Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15:46
|
|
|
Search
GEO
for disease gene expression data for Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15.
|
|
|