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MCID: ANG053
MIFTS: 8
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Angelman Syndrome Due to Maternal 15q11q13 Deletion
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Angelman Syndrome Due to Maternal 15q11q13 Deletion:
Name: Angelman Syndrome Due to Maternal 15q11q13 Deletion
58
Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis External Ids:
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MalaCards based summary :
Angelman Syndrome Due to Maternal 15q11q13 Deletion, also known as angelman syndrome due to maternal monosomy 15q11q13, is related to angelman syndrome and prader-willi syndrome. An important gene associated with Angelman Syndrome Due to Maternal 15q11q13 Deletion is OCA2 (OCA2 Melanosomal Transmembrane Protein). Related phenotype is no phenotypic analysis.
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Diseases in the Angelman Syndrome family:
Diseases related to Angelman Syndrome Due to Maternal 15q11q13 Deletion via text searches within MalaCards or GeneCards Suite gene sharing:
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MGI Mouse Phenotypes related to Angelman Syndrome Due to Maternal 15q11q13 Deletion:45
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Genes related to Angelman Syndrome Due to Maternal 15q11q13 Deletion (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Angelman Syndrome Due to Maternal 15q11q13 Deletion.
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