Primary intestinal lymphangiectasia
Synonyms: Waldmann disease
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary intestinal lymphangiectasia | Waldmann disease |
| fr | Lymphangiectasie intestinale primitive | Maladie de Waldmann |
| de | Lymphangiektasie, intestinale primäre | Waldmann-Krankheit |
| es | Linfangiectasia intestinal primaria | Enfermedad de Waldmann |
| it | Linfangectasia intestinale primitiva | Malattia di Waldmann |
| nl | Primaire intestinale lymfangiëctasie | Ziekte van Waldmann |
| pt | Linfangiectasia intestinal primária | |
| pl | Pierwotna limfangiektazja jelitowa | Choroba Waldmanna |
| cs | Primární střevní lymfangiektázie | Waldmannova nemoc |
| uk | Первинна кишкова лімфангіектазія | Хвороба Вальдмана |
| zh | 原发性小肠淋巴管扩张 | Waldmann病 |
| tr | Primer bağırsak lenfanjiyektazi | Waldmann hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 152800 | E | validated | |
| ICD-10 | I89.0 | NTBT | attributed | validated |
| ICD-11 | LB15.Y | NTBT | index | validated |
| MONDO | 0007916 | E | validated | |
| MeSH | C536567 | E | validated | |
| UMLS | C2931241 | E | validated | |
| GARD | 7873 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:36204Intestinal lymphangiectasia
rare gastroenterological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
35 annotations · validated 2021-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0001903 | Anemia | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0000969 | Edema | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0002593 | Intestinal lymphangiectasia | |
| Frequent (79-30%) | ||
| HP:0011472 | Abnormality of small intestinal villus morphology | |
| HP:0100508 | Abnormality of vitamin metabolism | |
| HP:0002028 | Chronic diarrhea | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0001510 | Growth delay | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0001888 | Lymphopenia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001541 | Ascites | |
| HP:0001541 | Ascites | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0007430 | Generalized edema | |
| HP:0002901 | Hypocalcemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0031686 | Increased stool alpha1-antitrypsin concentration | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0003394 | Muscle spasm | |
| HP:0031690 | Opportunistic infection | |
| HP:0001698 | Pericardial effusion | |
| HP:0002202 | Pleural effusion | |
| HP:0025624 | Reduced proportion of CD4+ effector memory T cells | |
| HP:0001281 | Tetany | |
| Very rare (<4-1%) | ||
| HP:0032160 | Cryptococcal meningitis | |
| HP:0032215 | Disseminated cutaneous warts | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30762910[PMID]_30381277[PMID]_32463559[PMID]_33505146[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90362
- This record as JSON: /data/d/90362.json