Details of Disease

General Information of Disease (ID: DISK9SP2)

Disease Name Rothmund-Thomson syndrome type 2
Synonyms RTS2; Rothmund-Thomson syndrome, type 2; poikiloderma of Rothmund-Thomson type 2
Definition
Rothmund-Thomson syndrome type 2 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, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
Disease Hierarchy
DISB52BH: Eye disorder
DISGVBCV: Rothmund-Thomson syndrome
DISK9SP2: Rothmund-Thomson syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0016369
UMLS CUI
C5203410
OMIM ID
268400
MedGen ID
1684753
Orphanet ID
221016
SNOMED CT ID
1003923009

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
RECQL4 OT59LSW7 Definitive Autosomal recessive [1]
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References

1 Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet. 2000 Jan 31;90(3):223-8. doi: 10.1002/(sici)1096-8628(20000131)90:3<223::aid-ajmg7>3.0.co;2-z.