RIDL
MCID: RDD003
MIFTS: 49
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Riddle Syndrome (RIDL)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Riddle Syndrome:
Characteristics:Orphanet epidemiological data:58
riddle syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Infancy; Age of death: adult; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Blood diseases Immune diseases
ICD10:
32
33
Orphanet: 58
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KEGG :
36
RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems.
MalaCards based summary : Riddle Syndrome, also known as radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, is related to ataxia-telangiectasia and canavan disease, and has symptoms including ataxia and dry skin. An important gene associated with Riddle Syndrome is RNF168 (Ring Finger Protein 168), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. Affiliated tissues include skin, eye and breast, and related phenotypes are short stature and immunodeficiency Disease Ontology : 12 A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has material basis in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. OMIM : 56 RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties (Stewart et al., 2007). (611943) UniProtKB/Swiss-Prot : 73 Riddle syndrome: Characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. Defects are probably due to impaired localization of TP53BP1 and BRCA1 at DNA lesions. Wikipedia : 74 RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity,... more... |
Human phenotypes related to Riddle Syndrome:58 31 (show all 46)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611943UMLS symptoms related to Riddle Syndrome:ataxia, dry skin GenomeRNAi Phenotypes related to Riddle Syndrome according to GeneCards Suite gene sharing:26 (show top 50) (show all 80)
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Cochrane evidence based reviews: riddle syndrome |
MalaCards organs/tissues related to Riddle Syndrome:40
Skin,
Eye,
Breast
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Articles related to Riddle Syndrome:(show all 13)
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ClinVar genetic disease variations for Riddle Syndrome:6
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Search
GEO
for disease gene expression data for Riddle Syndrome.
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Pathways related to Riddle Syndrome according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Riddle Syndrome according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Riddle Syndrome according to GeneCards Suite gene sharing:(show all 22)
Molecular functions related to Riddle Syndrome according to GeneCards Suite gene sharing:
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