ORPHA:268114
RAS-associated autoimmune leukoproliferative disease
Synonyms: RALD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RAS-associated autoimmune leukoproliferative disease | RALD |
| fr | Maladie leucoproliférative auto-immune associée à RAS | = en |
| de | RAS-assoziierte autoimmun-lymphoproliferative Krankheit | = en |
| es | Enfermedad leucoproliferativa autoinmune asociada a RAS | = en |
| it | Malattia autoimmune da proliferazione leucocitaria associata a RAS | ALPS, tipo 4 · ALPS, tipo IV · RALD · Sindrome linfoproliferativa autoimmune, tipo 4 · Sindrome linfoproliferativa autoimmune, tipo IV |
| nl | RAS-geassocieerde auto-immune leukoproliferatieve ziekte | = en |
| pt | Doença linfoproliferativa autoimune associada a RAS | ALPS tipo 4 · ALPS tipo IV · RALD · Síndrome linfoproliferativo autoimune tipo 4 · Síndrome linfoproliferativo autoimune tipo IV |
| pl | Autoimmunologiczna choroba leukoproliferacyjna związana z RAS | ALPS typu 4 · ALPS typu IV · Autoimmunologiczny zespół limfoproliferacyjny typu 4 · Autoimmunologiczny zespół limfoproliferacyjny typu IV · RALD |
| cs | RAS-asociované autoimunitní leukoproliferativní onemocnění | ALPS typ 4 · ALPS typ IV · Autoimunitní lymfoproliferativní syndrom, typ 4 · Autoimunitní lymfoproliferativní syndrom, typ IV · RALD |
| uk | RAS-асоційоване аутоімунне лейкопроліферативне захворювання | = en |
| zh | RAS相关自身免疫性白血病 | = en |
| tr | RAS -ilişkili otoimmün lökoproliferatif hastalık | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614470 | BTNT | validated | |
| OMIM | 621582 | BTNT | validated | |
| ICD-10 | D72.8 | NTBT | attributed | validated |
| MONDO | 0013767 | E | validated | |
| UMLS | C2674723 | 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:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:171898Lymphoid hemopathy
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 21079152[PMID] |
| NRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 17517660[PMID]_21079152[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268114
- This record as JSON: /data/d/268114.json