Details of Disease

General Information of Disease (ID: DISRFDBA)

Disease Name Martinez-Frias syndrome
Synonyms pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula; Martnez-Fras syndrome; Martinez-Frias syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISRFDBA: Martinez-Frias syndrome
Disease Identifiers
MONDO ID
MONDO_0011042
MESH ID
C563346
UMLS CUI
C1832443
OMIM ID
601346
MedGen ID
318628
Orphanet ID
137862

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
RFX6 OT8H77DL Definitive Autosomal recessive [1]
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References

1 Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia. 2004 Dec;47(12):2160-7. doi: 10.1007/s00125-004-1576-3. Epub 2004 Dec 8.