Chromosome 1P36.33 Duplication Syndrome
Disease ID: disease_node_19219
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| Dbxref | MIM:618815, ORDO:656279, UMLS_CUI:C5394150 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060429 |
| Data Source | DOID |
| Synonyms | CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT |
| Doid Label | chromosome 1p36.33 duplication syndrome |
| Doid Description | A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19219 |
| Doid Id | DOID_0070470 |
| Label | Chromosome 1P36.33 Duplication Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Duplication Syndrome(ID:disease_node_13621) (Disease)