Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Synonyms: Congenital neutropenia-CID due to MKL1 deficiency · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency · MKL1-related neutrophil motility defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary immunodeficieny due to a defect in innate immunity characterized by infantile-onset severe, recurrent bacterial infections. Patients may present with septic shock, meningitis, progressive and severe pneumonia (mostly associated with <i>Pseudomonas</i> infection), malignant otitis media, cutaneous and subcutaneous abscesses and poor wound healing. Severe impairment in neutrophil phagocytosis/migration are reported in all patients. Mild thrombocytopenia can also be present.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency | Congenital neutropenia-CID due to MKL1 deficiency · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency · MKL1-related neutrophil motility defect |
| fr | Neutropénie congénitale-déficit immunitaire combiné par déficit en MKL1 | Neutropénie congénitale-CID par déficit en MKL1 · Neutropénie congénitale-DIC par déficit en MKL1 · Neutropénie congénitale-déficit immunitaire combiné par déficit en protéine Megakaryoblastic leukemia 1 · Neutropénie congénitale-immunodéficience combinée par déficit en MKL1 |
| de | Kongenitale Neutropenie mit kombiniertem Immundefekt durch MKL1-Defizienz | MKL1-bedingter Motilitätsdefekt der Neutrophilen · Neutropenie mit kombiniertem Immundefekt infolge MKL1-Defizienz |
| es | Neutropenia congénita-inmunodeficiencia combinada por deficiencia de MKL1 | Defecto de motilidad de los neutrófilos asociado a MKL1 · Neutropenia congénita-IDC por deficiencia de MKL1 · Neutropenia congénita-inmunodeficiencia combinada por deficiencia de leucemia megacarioblástica 1 |
| it | Neutropenia congenita-immunodeficienza combinata da deficit di MKL1 | Difetto delle motilità dei neutrofili correlato a MKL1 · Difetto delle motilità dei neutrofili correlato a MKL1 · Neutropenia congenita-CID da deficit di MKL1 · Neutropenia congenita-immunodeficienza combinata da deficit della leucemia megacarioblastica 1 |
| nl | Congenitale neutropenie - gecombineerde immuundeficiëntie door MKL1-deficiëntie | Congenitale neutropenie - CID door MKL1-deficiëntie · Congenitale neutropenie - gecombineerde immuundeficiëntie door Megakaryoblastische leukemie 1-deficiëntie · MKL1-gerelateerde motiliteitsstoornis van neutrofielen |
| pt | Neutropenia congénita-imunodeficiência combinada devido a deficiência MKL1 | Defeito da motilidade neutrofílica MKL1-relacionada · Neutropenia congénita-CID devido a deficiência MKL1 · Neutropenia congénita-imunodeficiência combinada devido a deficiência Megacarioblástica leucemia 1 |
| pl | Niedobór odporności skutek upośledzonej fagocytozy i migracji neutrofilów | = en |
| cs | Imunodeficit způsobený poruchou fagocytózy a migrace neutrofilů | = en |
| uk | Вроджений комбінований імунодефіцит з нейтропенією, зумовлений дефіцитом MKL1 | Вроджена нейтропенія-CID внаслідок дефіциту MKL1 · Вроджений комбінований імунодефіцит з нейтропенією внаслідок дефіциту мегакаріобластної лейкемії 1 · Дефект рухливості нейтрофілів, повязаний з MKL1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618847 | E | validated | |
| ICD-10 | D71 | NTBT | attributed | validated |
| MONDO | 0850067 | E | validated | |
| UMLS | C5680413 | 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 (1):
- ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRTFA | Disease-causing germline mutation(s) in | Assessed | HGNC:14334 | ENSG00000196588 | 606078 | 22q13.1-q13.2 | myocardin related transcription factor A | 32128589[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 32128589[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32128589[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619941
- This record as JSON: /data/d/619941.json