ORPHA:2968
Leukocyte adhesion deficiency
Synonyms: LAD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis, recurrent infections, and delayed detachment of the umbilical cord.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukocyte adhesion deficiency | LAD |
| fr | Déficit d'adhésion leucocytaire | DAL · Déficit d'adhérence des leucocytes · Déficit d'adhérence leucocytaire · Déficit d'adhésion des leucocytes · LAD |
| de | Leukozytenadhäsionsdefekt | LAD · Leukozyten-Adhäsions-Defizienz |
| es | Deficiencia de adhesión leucocitaria | = en |
| it | Deficit di adesione leucocitaria | = en |
| nl | Deficiëntie van leukocytenadhesie | LAD · Leukocytenadhesiedeficiëntie |
| pt | Deficiência de adesão leucocitária | = en |
| pl | Zespół zaburzonego przylegania leukocytów | = en |
| cs | Deficit leukocytové adheze | = en |
| uk | Дефіцит адгезії лейкоцитів | = en |
| zh | 白细胞粘附缺陷病 | = en |
| tr | Lökosit adezyon eksikliği | DELİKANLI |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 116920 | BTNT | validated | |
| OMIM | 266265 | BTNT | validated | |
| OMIM | 612840 | BTNT | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0017570 | E | validated | |
| MeSH | D018370 | E | validated | |
| UMLS | C5550999 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:674648Syndrome with congenital phagocyte functional defect as a major feature
rare genetic diseases; rare immunological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FERMT3 | ORPHA:99844Leukocyte adhesion deficiency type III | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23151 | ENSG00000149781 | 607901 | 11q13.1 | FERM domain containing kindlin 3 | |
| ITGB2 | ORPHA:99842Leukocyte adhesion deficiency type I | Disease-causing germline mutation(s) in | Assessed | HGNC:6155 | ENSG00000160255 | 600065 | 21q22.3 | integrin subunit beta 2 | |
| SLC35C1 | ORPHA:99843Leukocyte adhesion deficiency type II | Disease-causing germline mutation(s) in | Assessed | HGNC:20197 | ENSG00000181830 | 605881 | 11p11.2 | solute carrier family 35 member C1 |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 350 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Latin America | Class only | Not yet validated | 22965369[PMID] |
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
52 annotations · validated 2019-11-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011990 | Abnormality of neutrophil physiology | |
| HP:0040238 | Impaired neutrophil chemotaxis | |
| HP:0002718 | Recurrent bacterial infections | |
| Frequent (79-30%) | ||
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0032434 | Delayed umbilical cord separation | |
| HP:0000230 | Gingivitis | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0006527 | Lymphocytic interstitial pneumonia | |
| HP:0032435 | Neonatal omphalitis | |
| HP:0000388 | Otitis media | |
| HP:0002586 | Peritonitis | |
| HP:0002090 | Pneumonia | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0001581 | Recurrent skin infections | |
| HP:0007499 | Recurrent staphylococcal infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0011947 | Respiratory tract infection | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000717 | Autism | |
| HP:0020087 | BCGosis | |
| HP:0002110 | Bronchiectasis | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000280 | Coarse facial features | |
| HP:0000509 | Conjunctivitis | |
| HP:0000099 | Glomerulonephritis | |
| HP:0001510 | Growth delay | |
| HP:0005575 | Hemolytic-uremic syndrome | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0003540 | Impaired platelet aggregation | |
| HP:0001249 | Intellectual disability | |
| HP:0001287 | Meningitis | |
| HP:0008404 | Nail dystrophy | |
| HP:0500035 | Nasolacrimal sac granuloma | |
| HP:0002754 | Osteomyelitis | |
| HP:0009789 | Perianal abscess | |
| HP:0001901 | Polycythemia | |
| HP:0025452 | Pyoderma gangrenosum | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0001250 | Seizure | |
| HP:0100806 | Sepsis | |
| HP:0000166 | Severe periodontitis | |
| HP:0004322 | Short stature | |
| HP:0000246 | Sinusitis | |
| HP:0001894 | Thrombocytosis | |
| HP:0030683 | Vaginitis | |
| Very rare (<4-1%) | ||
| HP:0004808 | Acute myeloid leukemia | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23351991[PMID]_30969592[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2968
- This record as JSON: /data/d/2968.json