Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Synonyms: AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency · Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency | AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency · Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency |
| fr | Syndrome hyper-IgE autosomique récessif par déficit en ZNF341 | AR-HIES par déficit en ZNF341 · HIES autosomique récessif par déficit en ZNF341 · Syndrome d'hyperimmunoglobuline E autosomique récessif par déficit en zinc finger protein 341 |
| de | Hyper IgE-Syndrom, autosomal-rezessives, durch ZNF341-Mangel | AR-HIES durch ZNF341-Defizienz · Autosomal-rezessives HIES aufgrund von ZNF341-Mangel · ZNF341-HIES |
| es | Síndrome de hiper-IgE autosómico recesivo por deficiencia de ZNF341 | SHIE autosómico recesivo por deficiencia de ZNF341 · SHIE-AR por deficiencia de ZNF341 · Síndrome de hiperinmunoglobulina E autosómico recesivo por deficiencia de proteína 341 de dedo de zinc |
| it | Sindrome da iper-IgE autosomica recessiva da deficit di ZNF341 | AR-HIES da deficit di ZNF341 · HIES autosomica recessiva da deficit di ZNF341 · Sindrome da iperimmunoglobulinemia E autosomica recessiva da deficit della proteina a dito di zinco 341 |
| nl | Autosomaal recessief hyper-IgE-syndroom door ZNF341-deficiëntie | AR-HIES door ZNF341-deficiëntie · Autosomaal recessief HIES door ZNF341-deficiëntie · Autosomaal recessief hyperimmunoglobuline-E-syndroom door deficiëntie van zinkvingerproteïne 341 |
| pt | Síndrome de hiper-IgE autossómica recessiva por deficiência de ZNF341 | HIES autossómica recessiva por deficiência de ZNF341 · HIES-AR por deficiência de ZNF341 · Síndrome de hiperimunoglobulina E autossómica recessiva por deficiência da proteina zinc finger 341 |
| pl | Autosomalny recesywny zespół hiper-IgE z powodu niedoboru ZNF341 | = en |
| cs | Autozomálně recesivní hyper-IgE syndrom způsobený deficitem ZNF341 | = en |
| uk | Аутосомно-рецесивний синдром гіпер-IgE, зумовлений дефіцитом ZNF341 | AR-HIES через дефіцит ZNF341 · Аутосомно-рецесивна HIES, зумовлена дефіцитом ZNF341 · Аутосомно-рецесивний синдром гіперімуноглобуліну Е, зумовлений дефіцитом білка цинкового пальця 341 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618282 | E | validated | |
| ICD-10 | D82.4 | NTBT | attributed | validated |
| ICD-11 | 4A01.34 | NTBT | index | validated |
| MONDO | 0957426 | E | validated | |
| MONDO | 32654 | E | validated | |
| MONDO | 957426 | E | validated | |
| UMLS | C5924853 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:169446OBSOLETE: Autosomal recessive hyper-IgE syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNF341 | Disease-causing germline mutation(s) in | Assessed | HGNC:15992 | ENSG00000131061 | 618269 | 20q11.22 | zinc finger protein 341 | 30264496[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 61 cases | Worldwide | Case(s) | Validated | 30264496[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30264496[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/641368
- This record as JSON: /data/d/641368.json