ORPHA:99844
Leukocyte adhesion deficiency type III
Synonyms: LAD-1 variant · LAD-III · Leukocyte adhesion deficiency-1 variant
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A form of leukocyte adhesion deficiency (LAD) characterized by both severe bacterial infections and a severe bleeding disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukocyte adhesion deficiency type III | LAD-1 variant · LAD-III · Leukocyte adhesion deficiency-1 variant |
| fr | Déficit d'adhésion leucocytaire type III | DAL-III · Déficit d'adhérence des leucocytes type III · Déficit d'adhérence leucocytaire type III · Déficit d'adhésion des leucocytes type III · LAD-III · Variant du DAL-I · Variant du déficit d'adhésion leucocytaire type I |
| de | Leukozytenadhäsionsdefekt Typ III | LAD-1 Variante · LAD-III · Leukozytenadhäsionsdefekt Typ I Variante |
| es | Deficiencia de adhesión leucocitaria tipo III | DAL-III · Variante de DAL-1 · Variante de la deficiencia de adhesión leucocitaria 1 |
| it | Deficit di adesione leucocitaria, tipo III | LAD-III · Variante del deficit dell'adesione leucocitaria tipo 1 · Variante di LAD-1 |
| nl | Deficiëntie van leukocytenadhesie type III | LAD-1 variant · LAD-III · Leukocytadhesiedeficiëntie type I variant · Leukocytenadhesiedeficiëntie type III |
| pt | Deficiência de adesão leucocitária tipo III | |
| pl | Niedobór adhezji leukocytów typu III | LAD-1 wariant · LAD-III · Niedobór adhezji leukocytów typu-1 wariant |
| cs | Deficit adheze leukocytů, typ III | LAD, varianta 1 · LAD-III · Deficit adheze leukocytů, varianta 1 |
| uk | Дефіцит адгезії лейкоцитів, тип III | Варіант LAD-1 · LAD-III · Дефіцит адгезії лейкоцитів-1 варіант |
| zh | 白细胞粘附缺陷3型 | 白细胞粘附缺陷-1型变异体 |
| tr | Lökosit adezyon eksikliği tip III | LAD-III · LAD-1 varyantı · Lökosit adezyon eksikliği-1 varyantı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612840 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0013016 | E | validated | |
| MeSH | C567555 | E | validated | |
| UMLS | C2748536 | 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:2968Leukocyte adhesion deficiency
rare genetic diseases; rare ophthalmic disorders; rare immunological diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 |
|---|---|---|---|---|---|---|---|---|
| FERMT3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23151 | ENSG00000149781 | 607901 | 11q13.1 | FERM domain containing kindlin 3 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 28827066[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28827066[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.
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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/99844
- This record as JSON: /data/d/99844.json