Cholestasis-lymphedema syndrome
Synonyms: Aagenaes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cholestasis-lymphedema syndrome | Aagenaes syndrome |
| fr | Syndrome de cholestase-lymphoedème | Syndrome d'Aagenaes |
| de | Cholestase-Lymphödem-Syndrom | Aagenaes-Syndrom |
| es | Síndrome de colestasis-linfedema | Síndrome de Aagenaes |
| it | Sindrome colestasi-linfedema | Sindrome di Aegenaes |
| nl | Cholestase - lymfoedeem-syndroom | Syndroom van Aagenaes |
| pt | Síndrome colestase-linfedema | Síndrome de Aagenaes |
| pl | Zespół cholestazy i obrzęku limfatycznego | Zespół Aagenaesa |
| cs | Hereditární cholestáza s lymfedémy | Aagenaesův syndrom |
| uk | Синдром холестазу-лімфедеми | Синдром Аагенаеса |
| zh | 胆汁淤积-淋巴水肿综合征 | Aagenaes综合征 |
| tr | Kolestaz-lenfödem sendromu | Aagenaes sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214900 | E | validated | |
| ICD-10 | Q82.0 | NTBT | attributed | validated |
| ICD-11 | DB99.6Y | NTBT | index | validated |
| MONDO | 0008966 | E | validated | |
| MeSH | C535330 | E | validated | |
| UMLS | C0268314 | E | validated | |
| GARD | 370 | 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 (3):
- ORPHA:289825Late-onset primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:156601Rare genetic hepatic disease
rare genetic diseases - ORPHA:57146Rare hepatic disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | 25039919[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25039919[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.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0003110 | Abnormality of urine homeostasis | |
| HP:0011985 | Acholic stools | |
| HP:0001080 | Biliary tract abnormality | |
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000952 | Jaundice | |
| HP:0001004 | Lymphedema | |
| HP:0002017 | Nausea and vomiting | |
| HP:0006566 | Neonatal cholestatic liver disease | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001012 | Multiple lipomas | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002653 | Bone pain | |
| HP:0001394 | Cirrhosis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001409 | Portal hypertension | |
| HP:0004349 | Reduced bone mineral density | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1414
- This record as JSON: /data/d/1414.json