Details of Disease | DrugMAP

General Information of Disease (ID: DISLHJX9)

Disease Name	Microphthalmia, isolated, with coloboma 5
Synonyms	MCOPCB5; Shh microphthalmia, isolated, with coloboma; microphthalmia, isolated, with coloboma caused by mutation in SHH; SHH microphthalmia, isolated, with coloboma; microphthalmia with coloboma 5; microphthalmia, isolated, with coloboma type 5; microphthalmia, isolated, with coloboma 5; microphthalmia, isolated, with coloboma caused by mutation in Shh
Definition	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
Disease Hierarchy	DISLSEUJ: Microphthalmia, isolated, with coloboma DISLHJX9: Microphthalmia, isolated, with coloboma 5
Disease Identifiers	MONDO ID MONDO_0012709 MESH ID C566899 UMLS CUI C1968843 OMIM ID 611638 MedGen ID 369356

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
SHH	TTIENCJ	Strong	Biomarker	[1]
SHH	TTIENCJ	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
SHH	OTOG2BXF	Definitive	Autosomal dominant	[2]
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References

1	Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.Clin Endocrinol (Oxf). 2013 Mar;78(3):415-23. doi: 10.1111/cen.12000.
2	Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003 Jan 30;116A(3):215-21. doi: 10.1002/ajmg.a.10884.