Details of Disease

General Information of Disease (ID: DISMV8M7)

Disease Name Acromicric dysplasia
Synonyms ACMICD; Acromicric skeletal dysplasia; Acromicric dysplasia
Definition A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Disease Hierarchy
DISMZUIT: Acromelic dysplasia
DISMV8M7: Acromicric dysplasia
Disease Identifiers
MONDO ID
MONDO_0007055
MESH ID
C535662
UMLS CUI
C0265287
OMIM ID
102370
MedGen ID
78549
Orphanet ID
969
SNOMED CT ID
254090007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LTBP3 OTME98V7 Supportive Autosomal dominant [1]
ADAMTS10 OTNJ9VSU Strong Biomarker [1]
ADAMTSL2 OTAXNV2U Strong Biomarker [1]
FBN1 OTYCJT63 Strong Autosomal dominant [2]
SMAD2 OTC6VB4K Strong Biomarker [3]
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References

1 Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.