ORPHA:90023
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Synonyms: Primary immunodeficiency syndrome due to LAMTOR2 deficiency · Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency | Primary immunodeficiency syndrome due to LAMTOR2 deficiency · Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency |
| fr | Syndrome de déficit immunitaire primaire par déficit en P14/LAMTOR2 | Syndrome d'immunodéficience primaire par déficit en LAMTOR2 · Syndrome d'immunodéficience primaire par déficit en P14 · Syndrome d'immunodéficience primaire par déficit en protéine P14/lysosomal adaptor, MAPK and MTOR activator 2 |
| de | Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz | P14/LAMTOR2-Defekt · Primärer Immundefekt durch P14-Mangel |
| es | Síndrome de inmunodeficiencia primaria por deficiencia de P14/LAMTOR2 | Síndrome de inmunodeficiencia primaria por deficiencia de LAMTOR2 · Síndrome de inmunodeficiencia primaria por deficiencia de P14 · Síndrome de inmunodeficiencia primaria por deficiencia de P14/endosoma tardío/adaptador lisosomal, activador MAPK y MTOR 2 · Síndrome de inmunodeficiencia primaria por deficiencia de p14 |
| it | Sindrome da immunodeficienza primitiva dovuta a deficit di P14/LAMTOR2 | Immunodeficienza primitiva da deficit di P14/adattatore tardivo endosomiale/lisosomiale, attivatore 2 di MAPK e MTOR · Sindrome da immunodeficienza primitiva dovuta a deficit di LAMTOR2 · Sindrome da immunodeficienza primitiva dovuta a deficit di P14 |
| nl | Primair immuundeficiëntiesyndroom door P14/LAMTOR2-deficiëntie | Primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie · Primair immuundeficiëntiesyndroom door P14-deficiëntie · Primair immuundeficiëntiesyndroom door deficiëntie van P14/Late endosomale/lysosomale adaptor, MAPK en MTOR activator 2 |
| pt | Síndrome de imunodeficiência primária por deficiência de P14/LAMTOR2 | Síndrome de imunodeficiência primária por deficiência de LAMTOR2 · Síndrome de imunodeficiência primária por deficiência de P14 · Síndrome de imunodeficiência primária por deficiência de P14/endossoma tardio/adaptador lisossomal, activador MAPK e MTOR |
| pl | Zespół pierwotnego niedoboru odporności spowodowany niedoborem P14/LAMTOR2 | Zespół pierwotnego niedoboru odporności z niskim wzrostem |
| cs | Primární imunodeficience způsobená deficitem p14 | Primární imunodeficience s nízkým vzrůstem |
| uk | Синдром первинного імунодефіциту внаслідок дефіциту P14/LAMTOR2 | Синдром первинного імунодефіциту внаслідок дефіциту LAMTOR2 · Синдром первинного імунодефіциту внаслідок дефіциту P14 · Синдром первинного імунодефіциту, зумовлений дефіцитом P14/пізнього ендосомального/лізосомального адаптера, MAPK та активатора MTOR 2 |
| zh | LAMTOR2缺乏所致原发性免疫缺陷综合征 | p14缺陷致原发性免疫缺陷综合征 |
| tr | LAMTOR2 eksikliğine bağlı primer immün yetmezlik sendromu | Kısa boy ile seyreden primer immün yetmezlik sendromu · P14 eksikliğine bağlı primer immün yetmezlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610798 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0012559 | E | validated | |
| UMLS | C4305256 | 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 (1):
- ORPHA:331184Syndrome with congenital neutropenia as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| LAMTOR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29796 | ENSG00000116586 | 610389 | 1q22 | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17195838[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17195838[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002721 | Immunodeficiency | |
| HP:0007443 | Partial albinism | |
| HP:0006538 | Recurrent bronchopulmonary infections | |
| HP:0004322 | Short stature | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 17195838[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90023
- This record as JSON: /data/d/90023.json