Details of Disease | DrugMAP

General Information of Disease (ID: DISCSXV3)

Disease Name	Microphthalmia, syndromic 12
Synonyms	syndromic microphthalmia-12; MCOPS12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects; microphthalmia, syndromic 12; syndromic microphthalmia caused by mutation in RARB; RARB syndromic microphthalmia; microphthalmia, syndromic type 12
Definition	Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.
Disease Hierarchy	DISR3JBJ: Syndromic microphthalmia DISCSXV3: Microphthalmia, syndromic 12
Disease Identifiers	MONDO ID MONDO_0014229 UMLS CUI C3809803 OMIM ID 615524 MedGen ID 816133

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RARB	TTISP28	Limited	Genetic Variation	[1]
RARB	TTISP28	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RARB	OT367U3E	Definitive	Autosomal dominant	[2]
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References

1	Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.