Details of Disease

General Information of Disease (ID: DISZ67F2)

Disease Name RIDDLE syndrome
Synonyms
radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties; RIDDLE syndrome; radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency
Definition
An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DISZ67F2: RIDDLE syndrome
Disease Identifiers
MONDO ID
MONDO_0012764
MESH ID
C567453
UMLS CUI
C2677792
OMIM ID
611943
MedGen ID
394368
Orphanet ID
420741
SNOMED CT ID
783099001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TP53BP1 TTX4UE9 Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RNF17 OTKOEPRW Strong Biomarker [2]
RNF168 OT6AZXX8 Definitive Autosomal recessive [3]
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References

1 The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell. 2009 Feb 6;136(3):420-34. doi: 10.1016/j.cell.2008.12.042.
2 An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.J Biol Chem. 2017 Jan 20;292(3):967-978. doi: 10.1074/jbc.M116.758854. Epub 2016 Nov 30.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.