Details of Disease

General Information of Disease (ID: DISYZ63U)

Disease Name Microphthalmia with brain and digit anomalies
Synonyms
microphthalmia and pituitary anomalies; microphthalmia, syndromic 6; microphthalmia with brain and digit developmental anomalies; microphthalmia syndromic 6; anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia; Bakrania-Ragge syndrome; microphthalmia, syndromic type 6; MCOPS6; syndromic microphthalmia type 6; microphthalmia with brain and digit anomalies
Definition
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Disease Hierarchy
DISR3JBJ: Syndromic microphthalmia
DISYZ63U: Microphthalmia with brain and digit anomalies
Disease Identifiers
MONDO ID
MONDO_0011936
MESH ID
C566440
UMLS CUI
C1864689
OMIM ID
607932
MedGen ID
355268
Orphanet ID
139471
SNOMED CT ID
721878003

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
BMP4 TTD3BSX Limited Biomarker [1]
BMP4 TTD3BSX 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
BMP4 OTPZMDFH Definitive Autosomal dominant [2]
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References

1 Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.BMC Endocr Disord. 2013 Dec 1;13:56. doi: 10.1186/1472-6823-13-56.
2 Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31.