Details of Disease | DrugMAP

General Information of Disease (ID: DISFV16J)

Disease Name	Nasopalpebral lipoma-coloboma syndrome
Synonyms	palpebral coloboma lipoma syndrome; Nasopalpebral lipoma coloboma syndrome; palpebral coloboma-lipoma syndrome; NPLCS; NASOPALPEBRAL lipoma-coloboma syndrome; nasopalpebral lipoma-coloboma syndrome
Definition	Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISFV16J: Nasopalpebral lipoma-coloboma syndrome
Disease Identifiers	MONDO ID MONDO_0008182 MESH ID C538338 UMLS CUI C1868660 OMIM ID 167730 MedGen ID 358378 Orphanet ID 2399 SNOMED CT ID 723411003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZDBF2	OTSPN4VZ	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.