ORPHA:420741
RIDDLE syndrome
Synonyms: RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RIDDLE syndrome | RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome |
| fr | Syndrome de RIDDLE | Déficit en RNF168 · Syndrome de radiosensibilité-déficit immunitaire-dysmorphie-difficultés d'apprentissage |
| de | RIDDLE-Syndrom | RNF168-Mangel · Strahlenempfindlichkeit-Immundefekt-dysmorphologische Merkmale-Lernschwierigkeiten-Syndrom |
| es | Síndrome RIDDLE | Deficiencia en RNF168 · Síndrome de radiosensibilidad-inmunodeficiencia-rasgos dismórficos-dificultades de aprendizaje |
| it | Sindrome RIDDLE | Deficit di RNF168 · Sindrome radiosensibilità-immunodeficienza-dismorfismi-difficoltà dell'apprendimento |
| nl | RIDDLE-syndroom | RNF168-deficiëntie · Radiosensitiviteit - immuundeficiëntie - dysmorfe kenmerken - leerproblemen-syndroom |
| pt | Síndrome de RIDDLE | |
| pl | Zespół RIDDLE | Niedobór RNF168 · Zespół radiowrażliwości, niedoboru odporności, dysmorfii i trudności w uczeniu |
| cs | RIDDLE syndrom | Deficit RNF168 · Syndrom zahrnující radiosenzitivitu, imunodeficienci, dysmorfické rysy a obtíže s učením |
| uk | Синдром RIDDLE | Синдром радіочутливості - імунодефіциту - дисморфічних особливостей - труднощів у навчанні · Дефіцит RNF168 |
| zh | RIDDLE 综合征 | 放射敏感性-免疫缺陷-畸形特征-学习障碍综合征 |
| tr | RIDDLE sendromu | RNF168 eksikliği · Radyosensitivite-immün yetmezlik-dismorfik özellikler-öğrenme güçlüğü sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611943 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4A0Y | NTBT | attributed | validated |
| MONDO | 0012764 | E | validated | |
| MeSH | C567453 | E | validated | |
| UMLS | C2677792 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNF168 | Disease-causing germline mutation(s) in | Assessed | HGNC:26661 | ENSG00000163961 | 612688 | 3q29 | ring finger protein 168 | 21394101[PMID]_19203578[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17940005[PMID]_21394101[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17940005[PMID]_21394101[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2018-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010997 | Chromosomal breakage induced by ionizing radiation | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0002721 | Immunodeficiency | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012387 | Bronchitis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0002090 | Pneumonia | |
| HP:0001954 | Recurrent fever | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001369 | Arthritis | |
| HP:0001251 | Ataxia | |
| HP:0002312 | Clumsiness | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0002014 | Diarrhea | |
| HP:0000712 | Emotional lability | |
| HP:0010677 | Enuresis nocturna | |
| HP:0010783 | Erythema | |
| HP:0001288 | Gait disturbance | |
| HP:0008940 | Generalized lymphadenopathy | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0030746 | Intraventricular hemorrhage | |
| HP:0000252 | Microcephaly | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0000388 | Otitis media | |
| HP:0007057 | Poor hand-eye coordination | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0004429 | Recurrent viral infections | |
| HP:0002878 | Respiratory failure | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0040189 | Scaling skin | |
| HP:0001009 | Telangiectasia | |
| HP:0001824 | Weight loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 17940005[PMID]_21394101[PMID]_29255463[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420741
- This record as JSON: /data/d/420741.json