Details of Disease

General Information of Disease (ID: DIS95DFH)

Disease Name Asphyxiating thoracic dystrophy 4
Synonyms asphyxiating thoracic dystrophy type 4; asphyxiating thoracic dystrophy 4; SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly; ATD4
Definition An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Disease Hierarchy
DISLC357: Jeune syndrome
DIS95DFH: Asphyxiating thoracic dystrophy 4
Disease Identifiers
MONDO ID
MONDO_0013441
UMLS CUI
C3151185
OMIM ID
613819
MedGen ID
462535

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TTC21B OTXXA87U Definitive Autosomal recessive [1]
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References

1 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.