Details of Disease

General Information of Disease (ID: DIS12N7F)

Disease Name Angel-shaped phalango-epiphyseal dysplasia
Synonyms Angel shaped phalangoepiphyseal dysplasia; Angel-shaped phalangoepiphyseal dysplasia; ASPED
Definition
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Disease Hierarchy
DISMZUIT: Acromelic dysplasia
DIS12N7F: Angel-shaped phalango-epiphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0007114
MESH ID
C536361
UMLS CUI
C1739384
OMIM ID
105835
MedGen ID
366028
Orphanet ID
63442
SNOMED CT ID
720984008

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
GDF5 TT37XV9 Supportive Autosomal dominant [1]
GDF5 TT37XV9 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GDF5 OTOV8S81 Supportive Autosomal dominant [1]
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References

1 Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. J Med Genet. 2004 Jun;41(6):e78. doi: 10.1136/jmg.2003.013904.
2 A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.Eur J Med Genet. 2012 Nov;55(11):611-4. doi: 10.1016/j.ejmg.2012.07.004. Epub 2012 Jul 22.