Details of Disease

General Information of Disease (ID: DISQD3X1)

Disease Name Congenital hypotrichosis with juvenile macular dystrophy
Synonyms
juvenile macular dystrophy and congenital hypotrichosis; juvenile macular degeneration and hypotrichosis; hypotrichosis with juvenile macular degeneration; hypotrichosis, congenital, with juvenile macular dystrophy; HJMD; hypotrichosis with juvenile macular dystrophy; hypotrichosis with cone-rod dystrophy; Hjmd
Definition A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Disease Hierarchy
DISSW933: Hypotrichosis
DISLRS4M: Ectodermal dysplasia
DISQD3X1: Congenital hypotrichosis with juvenile macular dystrophy
Disease Identifiers
MONDO ID
MONDO_0011107
MESH ID
C537698
UMLS CUI
C1832162
OMIM ID
601553
MedGen ID
316921
Orphanet ID
1573

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
CDH3 TTARMD9 Limited Biomarker [1]
CDH3 TTARMD9 Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDH3 OTKNLQU7 Strong Autosomal recessive [2]
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References

1 CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. Mol Syndromol. 2010;1(5):223-230. doi: 10.1159/000327156. Epub 2011 Apr 7.
2 Mechanism of cell-cell adhesion complex assembly. Curr Opin Cell Biol. 1999 Oct;11(5):561-6. doi: 10.1016/s0955-0674(99)00021-6.