ORPHA:169079
Cernunnos-XLF deficiency
Synonyms: Cernunnos XLFD · Cernunnos deficiency · Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome · NHEJ1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cernunnos-XLF deficiency | Cernunnos XLFD · Cernunnos deficiency · Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome · NHEJ1 deficiency |
| fr | Déficit en cernunnos-XLF | Déficit en NHEJ1 · Déficit en cernunnos · Syndrome de déficit immunitaire combiné-microcéphalie-retard de croissance-sensibilité aux radiations ionisantes |
| de | Cernunnos/XLF-Mangel | Cernunnos XLFD · Cernunnos-Mangel · Immundefekt, kombinierter schwerer - Mikrozephalie - Wachstumsretardierung - Sensitivität gegenüber ionisierender Strahlung · Immundefekt, kombinierter schwerer - Mikrozephalie - Wachstumsretardierung - Strahlenempfindlichkeit · NHEJ1-Mangel |
| es | Deficiencia de cernunnos-XLF | Cernunnos XLFD · Deficiencia de NHEJ1 · Deficiencia de cernunnos · Inmunodeficiencia combinada-microcefalia-retraso del crecimiento-sensibilidad a la radiación ionizante |
| it | Deficit di Cernunnos-XLF | Deficit di Cernunnos · Deficit di NHEJ1 · Immunodeficienza combinata - microcefalia - ritardo della crescita - sensibilità alle radiazioni ionizzanti · XLFD di Cernunnos |
| nl | Cernunnos-XLF-deficiëntie | Cernunnos XLFD · Cernunnosdeficiëntie · Gecombineerde immuundeficiëntie - microcefalie - groeiachterstand - gevoeligheid voor ioniserende bestraling · NHEJ1-deficiëntie |
| pt | Imunodeficiência combinada grave - microcefalia - atraso de crescimento - sensibilidade às radiações ionizantes | |
| pl | Niedobór Cernunnos-XLF | Cernunnos XLFD · Niedobór białka Cernunnos · Niedobór NHEJ1 · Złożony Niedobór odporności - małogłowie - opóźnienie wzrostu - wrażliwość na promieniowanie jonizujące |
| cs | Cernunnos-XLF deficience | Cernunnos XLFD · Cernunnos deficit · Deficit NHEJ1 · Syndrom zahrnující kombinovanou imunodeficienci, mikrocefalii, růstovou retardaci a citlivost k ionizujícímu záření |
| uk | Дефіцит сernunnos-XLF | Дефіцит Цернуннаса · Cernunnos XLFD · Комбінований імунодефіцит-мікроцефалія-затримка росту-чутливість до іонізуючого випромінювання · Дефіцит NHEJ1 |
| zh | Cernunnos-XLF 缺陷 | 联合免疫缺陷-小头畸形-生长迟缓-电离辐射敏感综合征 |
| tr | Cernunnos-XLF eksikliği | Cernunnos XLFD · NHEJ1 eksikliği · Cernunnos eksikliği · Kombine immün yetmezlik-mikrosefali-büyüme geriliği-iyonlaştırıcı radyasyon sendromuna duyarlılık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611291 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0012650 | E | validated | |
| UMLS | C4303792 | 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 (2):
- ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:720308T-B-NK+ severe combined immunodeficiency with microcephaly
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NHEJ1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25737 | ENSG00000187736 | 611290 | 2q35 | non-homologous end joining factor 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000320 | Bird-like facies | |
| HP:0000414 | Bulbous nose | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0010976 | Decreased total B cell count | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001510 | Growth delay | |
| HP:0001888 | Lymphopenia | |
| HP:0000252 | Microcephaly | |
| HP:0000340 | Sloping forehead | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002721 | Immunodeficiency | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0004429 | Recurrent viral infections | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169079
- This record as JSON: /data/d/169079.json