Details of Disease

General Information of Disease (ID: DISMPOAO)

• Disease Name: North Carolina macular dystrophy
• Synonyms: foveal dystrophy, progressive, formerly; macular dystrophy retinal 1 North Carolina type; macular dystrophy, retinal, 1, NORTH Carolina type; retinal pigment epithelial dystrophy central; retinal pigment epithelial dystrophy, central; foveal dystrophy progressive; foveal dystrophy, progressive; CAPE dystrophy; NCMD; central retinal pigment epithelial dystrophy; North Carolina macular dystrophy; North Carolina macular dystrophy, retinal 1; central areolar pigment epithelial dystrophy; progressive foveal dystrophy; caped; macular dystrophy 1, North Carolina type; MCDR1
• Definition: North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.|OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC.
• Disease Hierarchy:
  DIS9K7AA: Macular dystrophy, retinal
  DISMPOAO: North Carolina macular dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0007630
  MESH ID: C537835
  UMLS CUI: C0730294
  OMIM ID: 136550
  MedGen ID: 147590
  Orphanet ID: 75327
  SNOMED CT ID: 312925009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRDM13	OTUNAFQW	Limited	Autosomal dominant	[1]
IRX1	OT0ZN9EJ	moderate	Genetic Variation	[2]
IMPG1	OT12HBL0	Strong	Genetic Variation	[3]
CCNC	OTMVK4K4	Definitive	Genetic Variation	[1]

References

• [1] A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322.
• [2] Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6.
• [3] Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641.