Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Synonyms: SIFD syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | SIFD syndrome |
| fr | Syndrome d'anémie sidéroblastique congénitale-déficit immunitaire en cellules B-fièvre périodique-retard de développement | Syndrome SIFD · Syndrome d'anémie sidéroblastique congénitale-immunodéficience à cellules B-fièvre périodique-retard de développement |
| de | Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerung-Syndrom | SFID-Syndrom |
| es | Síndrome de anemia sideroblástica congénita-inmunodeficiencia de células B-fiebre periódica-retraso del desarrollo | Síndrome SFID |
| it | Sindrome anemia sideroblastica congenita-immunodeficienza dei linfociti B-febbre periodica-ritardo dello sviluppo | Sindrome SFID |
| nl | Congenitale sideroblastische anemie - B-cel-immuundeficiëntie - periodieke koorts - ontwikkelingsachterstand-syndroom | SFID-syndroom |
| pt | Síndrome de anemia sideroblástica congénita-imunodeficiência de células B-febre periódica-atraso de desenvolvimento | |
| pl | Zespół wrodzonej niedokrwistości syderoblastycznej, niedoboru odporności B-komórkowej, gorączki okresowej i opóźnienia w rozwoju | Zespół SIFD |
| cs | Syndrom zahrnující vrozenou sideroblastickou anémii, B-buněčnou imunodeficienci, periodickou horečku a opoždění vývoje | SIFD syndrom |
| uk | Синдром вродженої сидеробластної анемії-В-клітинного імунодефіциту-періодичної лихоманки-затримки розвитку | Синдром SIFD |
| zh | 先天性铁粒幼细胞性贫血-B细胞免疫缺陷-周期性发热-发育迟缓综合征 | SIFD综合征 |
| tr | Doğumsal sideroblastik anemi-B-hücresi immün yetmezlik-periyodik ateş-gelişme geriliği sendromu | SIFD sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616084 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.01 | NTBT | attributed | validated |
| MONDO | 0014487 | E | validated | |
| UMLS | C4707403 | 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:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRNT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17341 | ENSG00000072756 | 612907 | 3p26.2 | tRNA nucleotidyl transferase 1 | 25193871[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 25193871[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25193871[PMID] |
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/369861
- This record as JSON: /data/d/369861.json