ORPHA:656326
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Synonyms: AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive combined immunodeficiency due to IL6R deficiency | AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency |
| fr | Déficit immunitaire combiné autosomique récessif par déficit en IL6R | CID autosomique récessive par déficit en IL6R · DIC autosomique récessif par déficit en IL6R · Déficit immunitaire combiné autosomique récessif par déficit en interleukin 6 signal receptor · Immunodéficience combinée autosomique récessive par déficit en IL6R |
| de | Kombinierter Immundefekt, autosomal-rezessiver, durch IL6R-Mangel | Autosomal-rezessiver kombinierter Immundefekt durch IL6-Rezeptorproteinmangel · CID durch IL6R-Defizienz |
| es | Inmunodeficiencia combinada autosómica recesiva por deficiencia de IL6R | IDC AR por deficiencia de IL6R · Inmunodeficiencia combinada autosómica recesiva por deficiencia de la proteína receptora de IL6 |
| it | Immunodeficienza combinata autosomica recessiva da deficit di IL6ST | CID AR da deficit di IL6R · Immunodeficienza combinata autosomica recessiva da deficit della proteina del recettore di IL6 |
| nl | Autosomaal recessieve gecombineerde immuundeficiëntie door IL6R-deficiëntie | AR CID door IL6R-deficiëntie · Autosomaal recessieve gecombineerde immuundeficiëntie door deficiëntie van IL6-receptorproteïne |
| pt | Imunodeficiência combinada autossómica recessiva devida a deficiência de IL6R | AR CID devido a deficiência de IL6R · Imunodeficiência combinada autossómica recessiva devida a deficiência do receptor proteico IL6 |
| pl | Autosomalny recesywny złożony niedobór odporności spowodowany niedoborem IL6ST | = en |
| cs | Autozomálně recesivní kombinovaná imunodeficience způsobená deficitem IL6R | = en |
| uk | Аутосомно-рецесивний комбінований імунодефіцит, зумовлений дефіцитом IL6R | АР КІД внаслідок дефіциту IL6R · Аутосомно-рецесивний комбінований імунодефіцит, зумовлений дефіцитом білка рецептора IL6 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618944 | E | validated | |
| ICD-10 | D82.4 | NTBT | attributed | validated |
| MONDO | 0958118 | E | validated | |
| MONDO | 958118 | E | validated | |
| UMLS | C5925112 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL6R | Disease-causing germline mutation(s) in | Assessed | HGNC:6019 | ENSG00000160712 | 147880 | 1q21.3 | interleukin 6 receptor | 31235509[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/656326
- This record as JSON: /data/d/656326.json