Cholestasis - lymphedema
General Information (adopted from Orphanet):
Synonyms, Signs: |
LYMPHEDEMA-CHOLESTASIS SYNDROME LCS1 CHLS LCS aagenaes syndrome |
Number of Symptoms | 31 |
OrphanetNr: | 1414 |
OMIM Id: |
214900
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ICD-10: |
Q82.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 50 cases [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic parenchymatous liver disease
-Rare genetic disease Rare parenchymatous liver disease -Rare hepatic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0012086) | Abnormal urinary color | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0002653) | Bone pain | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0001743) | Abnormality of the spleen | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000952) | Jaundice | 105 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0006566) | Neonatal cholestatic liver disease | 2 / 7739 | ||||
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(HPO:0011985) | Acholic stools | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001409) | Portal hypertension | Occasional [Orphanet] | 39 / 7739 | |||
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(HPO:0002024) | Malabsorption | 142 / 7739 | ||||
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(HPO:0005248) | Intrahepatic biliary atresia | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0001394) | Cirrhosis | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0002239) | Gastrointestinal hemorrhage | Occasional [Orphanet] | 97 / 7739 | |||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0001055) | Erysipelas | 6 / 7739 | ||||
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(HPO:0003119) | Abnormality of lipid metabolism | Very frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0003077) | Hyperlipidemia | 37 / 7739 | ||||
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(HPO:0002908) | Conjugated hyperbilirubinemia | 21 / 7739 | ||||
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(HPO:0003155) | Elevated alkaline phosphatase | 52 / 7739 | ||||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001012) | Multiple lipomas | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0100763) | Abnormality of the lymphatic system | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(OMIM) | Infantile malabsorption | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Elevated serum bile acids | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
In 2 Norwegian kindreds, Aagenaes et al. (1968, 1970) described a syndrome of hereditary recurrent cholestasis and lymphedema. Jaundice became evident soon after birth and recurred in episodes throughout life. Edema in the legs, which was due to ... |