ORPHA:693647
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
Synonyms: Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome | Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency |
| fr | Syndrome d'agammaglobulinémie-cardiomyopathie hypertrophique à début précoce-neutropénie | Agammaglobulinémie syndromique par déficit en protéine FNIP1 · Hypogammaglobulinémie syndromique par déficit en protéine FNIP1 |
| de | Früh beginnende Agammaglobulinämie-hypertrophe Kardiomyopathie-Neutropenie-Syndrom | Syndromale Agammaglobulinämie durch FNIP1-Defizienz |
| es | Síndrome de agammaglobulinemia-miocardiopatía hipertrófica de inicio precoz-neutropenia | Hipogammaglobulinemia sindrómica por deficiencia de FNIP1 |
| it | Sindrome agammaglobulinemia-cardiomiopatia ipertrofica ad esordio precoce-neutropenia | Agammaglobulinemia sindromica da deficit di FNIP1 · Ipogammaglobulinemia sindromica da deficit di FNIP1 |
| nl | Agammaglobulinemie - vroeg optredende hypertrofische cardiomyopathie - neutropenie-syndroom | Syndromale agammaglobulinemie door FNIP1-deficiëntie · Syndromale hypogammaglobulinemie door FNIP1-deficiëntie |
| pt | Síndrome de agamaglobulinemia-cardiomiopatia hipertrófica de início precoce-neutropenia | Agamaglobulinemia sindrómica devido a deficiência FNIP1 · Hipogamaglobulinemia sindrómica devido a deficiência FNIP1 |
| pl | Zespół agammaglobulinemii, kardiomiopatii przerostowej o wczesnym początku i neutropenii | = en |
| cs | Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619705 | 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:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| FNIP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29418 | ENSG00000217128 | 610594 | 5q31.1 | folliculin interacting protein 1 | 32905580[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 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/693647
- This record as JSON: /data/d/693647.json