ORPHA:652522
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Synonyms: PFITS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periodic fever-immunodeficiency-thrombocytopenia syndrome | PFITS |
| fr | Syndrome de fièvre périodique-immunodéficience-thrombocytopénie | PFIT |
| de | Periodisches Fieber-Immundefekt-Thrombozytopenie-Syndrom | = en |
| es | Síndrome de fiebre periódica-inmunodeficiencia-trombocitopenia | = en |
| it | Sindrome febbre periodica-immunodeficienza-trombocitopenia | = en |
| nl | Periodieke koorts - immuundeficiëntie - trombocytopenie-syndroom | = en |
| pt | Síndrome de febre periódica-imunodeficiência-trombocitopenia | = en |
| pl | Zespół okresowa gorączka - niedobór odporności - małopłytkowość | = en |
| cs | Syndrom zahrnující periodickou horečku, imunodeficienci a trombocytopenii | = en |
| uk | Синдром періодичної лихоманки-імунодефіциту-тромбоцитопенії | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150550 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0007883 | E | validated | |
| MONDO | 7883 | 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 (4):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12754 | ENSG00000071127 | 604734 | 4p16.1 | WD repeat domain 1 | 29751004[PMID]_27994071[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/652522
- This record as JSON: /data/d/652522.json