ORPHA:693627
Agammaglobulinemia-skin involvement-failure to thrive syndrome
Synonyms: Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Agammaglobulinemia-skin involvement-failure to thrive syndrome | Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency |
| fr | Syndrome d'agammaglobulinémie-atteinte cutanée-retard staturo-pondéral | Agammglobulinémie syndromique par déficit en protéine ZIP7 · Syndrome d'hypoglobulinémie-atteinte cutanée-retard staturo-pondéral |
| de | Agammaglobulinämie-Hautbeteiligung-Gedeihstörung-Syndrom | Agammaglobulinämie 9, autosomal-rezessive · Syndromale Agammaglobulinämie durch ZIP7-Defizienz |
| es | Síndrome de agammaglobulinemia-afectación cutánea-fallo de medro | Agammaglobulinemia sindrómica por deficiencia de ZIP7 · Síndrome de hipogammaglobulinemia-afectación cutánea-fallo de medro |
| it | Sindrome agammaglobulinemia-coinvolgimento cutaneo-ritardo della crescita | Sindrome ipogammaglobulinemia-coinvolgimento cutaneo-ritardo della crescita · Agammaglobulinemia sindromica da deficit di ZIP7 |
| nl | Agammaglobulinemie - betrokkenheid van huid - niet-gedijen-syndroom | Hypogammaglobulinemie - betrokkenheid van huid - niet-gedijen-syndroom · Syndromale agammaglobulinemie door ZIP7-deficiëntie |
| pt | Síndrome de agamaglobulinemia-envolvimento cutâneo-atraso de crescimento | Agamaglobulinemia sindrómica devido a deficiência ZIP7 · Síndrome de hipogamaglobulinemia-envolvimento cutâneo-atraso de crescimento |
| pl | Zespół agammaglobulinemii, zajęcia skóry i nieprawidłowego rozwoju | = en |
| cs | Agammaglobulinemia-skin involvement-failure to thrive syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619693 | E | validated | |
| ICD-10 | D80.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.00 | NTBT | attributed | 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 (2):
- ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:229720Syndromic agammaglobulinemia
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC39A7 | Disease-causing germline mutation(s) in | Assessed | HGNC:4927 | ENSG00000112473 | 601416 | 6p21.32 | solute carrier family 39 member 7 | 30718914[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
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/693627
- This record as JSON: /data/d/693627.json