Details of Disease

General Information of Disease (ID: DISDL42Q)

Disease Name Rothmund-Thomson syndrome type 1
Synonyms ROTHMUND-THOMSON SYNDROME, TYPE 1; Poikiloderma Atrophicans and Cataract; poikiloderma of Rothmund-Thomson type 1; RTS1
Definition
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
Disease Hierarchy
DISGVBCV: Rothmund-Thomson syndrome
DISDL42Q: Rothmund-Thomson syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0016368
UMLS CUI
C5231433
OMIM ID
618625
MedGen ID
1684764
Orphanet ID
221008
SNOMED CT ID
1003922004

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
ANAPC1 OT2YY35L Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Adult neuropsychiatric expression and familial segregation of 2q13 duplications. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun;165B(4):337-44. doi: 10.1002/ajmg.b.32236. Epub 2014 May 8.