ORPHA:1667
Wolcott-Rallison syndrome
Synonyms: Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wolcott-Rallison syndrome | Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS |
| fr | Syndrome de Wolcott-Rallison | Diabète précoce et dysplasie épiphysaire multiple · WRS |
| de | Wolcott-Rallison-Syndrom | Multiple epiphysäre Dysplasie - früh einsetzender Diabetes |
| es | Síndrome de Wolcott-Rallison | Diabetes mellitus de inicio precoz con displasia epifisaria múltiple · WRS |
| it | Sindrome di Wolcott-Rallison | Diabete mellito a esordio precoce - displasia epifisaria multipla · WRS |
| nl | Syndroom van Wolcott-Rallison | Vroeg optredende diabetes mellitus met multipele epifysaire dysplasie · WRS |
| pt | Síndrome Wolcott-Rallison | Displasia epifisária múltipla com diabetes mellitus precoce |
| pl | Zespół Wolcotta i Rallisona | Cukrzyca o wczesnym początku z wielomiejscową dysplazją nasad · WRS |
| cs | Wolcottové-Rallisonův syndrom | WRS · Časně-vzniklý diabetes mellitus s mnohočetnou epifyzární dysplázií · Wolcott-Rallisonův syndrom |
| uk | Синдром Волкотта-Раллісона | Цукровий діабет на ранніх стадіях з множинною епіфізарною дисплазією · WRS |
| zh | Wolcott-Rallison综合征 | 早发性糖尿病伴多发性骨骺发育不良 |
| tr | Wolcott-Rallison sendromu | WRS · Çoklu epifiz displazili erken başlangıçlı diabetes mellitus |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226980 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | 5A13.6 | NTBT | index | validated |
| MONDO | 0009192 | E | validated | |
| MeSH | C536739 | E | validated | |
| UMLS | C0432217 | E | validated | |
| GARD | 5589 | E | validated | |
| MedDRA | 10090582 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF2AK3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3255 | ENSG00000172071 | 604032 | 2p11.2 | eukaryotic translation initiation factor 2 alpha kinase 3 | 21050479[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 21050479[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
40 annotations · validated 2021-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0001510 | Growth delay | |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0004325 | Decreased body weight | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| Occasional (29-5%) | ||
| HP:0410263 | Brain imaging abnormality | |
| HP:0011787 | Central hypothyroidism | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001944 | Dehydration | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0001945 | Fever | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001987 | Hyperammonemia | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0000952 | Jaundice | |
| HP:0001993 | Ketoacidosis | |
| HP:0100827 | Lymphocytosis | |
| HP:0000252 | Microcephaly | |
| HP:0001324 | Muscle weakness | |
| HP:0002719 | Recurrent infections | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0001541 | Ascites | |
| HP:0001631 | Atrial septal defect | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0002902 | Hyponatremia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28843469[PMID]_30514997[PMID]_31884440[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1667
- This record as JSON: /data/d/1667.json