ORPHA:538
Lymphangioleiomyomatosis
Synonyms: LAM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lymphangioleiomyomatosis | LAM |
| fr | Lymphangioléiomyomatose | = en |
| de | Lymphangioleiomyomatose | = en |
| es | Linfangioleiomiomatosis | = en |
| it | Linfangioleiomiomatosi | = en |
| nl | Lymfangioleiomyomatose | = en |
| pt | Linfangioleiomiomatose | = en |
| pl | Limfangioleiomiomatoza | = en |
| cs | Lymfangioleiomyomatóza | = en |
| uk | Лімфангіолейоміоматоз | = en |
| zh | 淋巴管肌瘤病 | = en |
| tr | Lenfanjiyoleyomiyomatoz | KUZU |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606690 | E | validated | |
| ICD-10 | D48.7 | NTBT | attributed | validated |
| ICD-11 | CB07 | E | specific | validated |
| MONDO | 0006277 | E | validated | |
| MeSH | D018192 | E | validated | |
| UMLS | C0751674 | E | validated | |
| GARD | 3319 | E | validated | |
| MedDRA | 10049459 | 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:264740Primary interstitial lung disease specific to adulthood
rare respiratory diseases; rare transplant-related disorders - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSC1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12362 | ENSG00000165699 | 605284 | 9q34.13 | TSC complex subunit 1 | 17541983[PMID] |
| TSC2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12363 | ENSG00000103197 | 191092 | 16p13.3 | TSC complex subunit 2 | 17541983[PMID] |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.0135 / 100 000 | Worldwide | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Worldwide | Value and class | Validated | 21764810[PMID]_ ORPHANET_[EXPERT] |
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | United States | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | United States | Value and class | Validated | 21764810[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | France | Value and class | Validated | 10499073[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.19 / 100 000 | Germany | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.21 / 100 000 | Canada | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | United Kingdom | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.32 / 100 000 | Switzerland | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.39 / 100 000 | New Zealand | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.26 / 100 000 | Australia | Value and class | Validated | 21764810[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Netherlands | Value and class | Validated | DOI:10.1517/21678707.2015.1022529[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Europe | Value and class | Validated | 21764810[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
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0002091 | Restrictive ventilatory defect | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0100750 | Atelectasis | |
| HP:0010310 | Chylothorax | |
| HP:0002097 | Emphysema | |
| HP:0000790 | Hematuria | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002107 | Pneumothorax | |
| HP:0012798 | Pulmonary lymphangiomyomatosis | |
| HP:0006772 | Renal angiomyolipoma | |
| HP:0100804 | Ungual fibroma | |
| Occasional (29-5%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001541 | Ascites | |
| HP:0011852 | Chylopericardium | |
| HP:0100543 | Cognitive impairment | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002105 | Hemoptysis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001004 | Lymphedema | |
| HP:0012733 | Macule | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000648 | Optic atrophy | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0009726 | Renal neoplasm | |
| HP:0009594 | Retinal hamartoma | |
| HP:0001250 | Seizure | |
| HP:0009721 | Shagreen patch | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538
- This record as JSON: /data/d/538.json