ORPHA:99842
Leukocyte adhesion deficiency type I
Synonyms: LAD-I
- 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 life-threatening, recurrent bacterial infections, neutrophilia, and delayed detachment of the umbilical cord.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukocyte adhesion deficiency type I | LAD-I |
| fr | Déficit d'adhésion leucocytaire type I | DAL-I · Déficit d'adhérence des leucocytes type I · Déficit d'adhérence leucocytaire type I · Déficit d'adhésion des leucocytes type I · LAD-I |
| de | Leukozytenadhäsionsdefekt Typ I | = en |
| es | Deficiencia de adhesión leucocitaria tipo I | = en |
| it | Deficit di adesione leucocitaria, tipo I | = en |
| nl | Deficiëntie van leukocytenadhesie type I | LAD-I · Leukocytenadhesiedeficiëntie type I |
| pt | Deficiência de adesão leucocitária tipo I | |
| pl | Niedobór adhezji leukocytów typu I | = en |
| cs | Deficit adheze leukocytů, typ I | = en |
| uk | Дефіцит адгезії лейкоцитів, тип I | LAD-І |
| zh | 白细胞粘附缺陷1型 | = en |
| tr | Lökosit adezyon eksikliği tip I | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116920 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0007293 | E | validated | |
| MeSH | C535887 | E | validated | |
| UMLS | C0398738 | E | validated | |
| GARD | 6893 | E | validated | |
| MedDRA | 10090483 | 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:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| ITGB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6155 | ENSG00000160255 | 600065 | 21q22.3 | integrin subunit beta 2 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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/99842
- This record as JSON: /data/d/99842.json