MCID: CHL073
MIFTS: 34

Cholestasis-Lymphedema Syndrome

Categories: Rare diseases, Cardiovascular diseases, Liver diseases, Skin diseases, Fetal diseases, Immune diseases

Aliases & Classifications for Cholestasis-Lymphedema Syndrome

MalaCards integrated aliases for Cholestasis-Lymphedema Syndrome:

Name: Cholestasis-Lymphedema Syndrome 57 59 13
Aagenaes Syndrome 57 12 76 53 59 44 15
Cholestasis-Edema Syndrome, Norwegian Type 12 73
Chls 57 53
Lcs 57 53
Lymphedema-Cholestasis Syndrome; Lcs; Lcs1 57
Lymphedema-Cholestasis Syndrome 57
Cholestasis Lymphedema Syndrome 53
Lymphedema Cholestasis Syndrome 53
Lcs1 53

Characteristics:

Orphanet epidemiological data:

59
cholestasis-lymphedema syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of lymphedema before puberty
onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood
recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy


HPO:

32
cholestasis-lymphedema syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis-Lymphedema Syndrome

NIH Rare Diseases : 53 Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familialintrahepatic cholestasis associated with lymphedema of the lower extremities. At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q. This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.

MalaCards based summary : Cholestasis-Lymphedema Syndrome, also known as aagenaes syndrome, is related to lymphoma, hodgkin, classic and light chain deposition disease, and has symptoms including icterus An important gene associated with Cholestasis-Lymphedema Syndrome is LCS1 (Lymphedema-Cholestasis Syndrome 1). Affiliated tissues include skin, liver and bone, and related phenotypes are jaundice and abnormality of skin pigmentation

Disease Ontology : 12 A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.

Wikipedia : 76 Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes... more...

Description from OMIM: 214900

Related Diseases for Cholestasis-Lymphedema Syndrome

Graphical network of the top 20 diseases related to Cholestasis-Lymphedema Syndrome:



Diseases related to Cholestasis-Lymphedema Syndrome

Symptoms & Phenotypes for Cholestasis-Lymphedema Syndrome

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Muscle Soft Tissue:
lymphedema

Laboratory Abnormalities:
hyperlipidemia
conjugated hyperbilirubinemia
elevated alkaline phosphatase
elevated transaminases
elevated serum bile acids

Abdomen Liver:
hepatomegaly
cirrhosis
neonatal cholestatic liver disease

Skin Nails Hair Skin:
jaundice
erysipelas

Abdomen Gastrointestinal:
infantile malabsorption


Clinical features from OMIM:

214900

Human phenotypes related to Cholestasis-Lymphedema Syndrome:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
2 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
3 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
4 multiple lipomas 59 32 frequent (33%) Frequent (79-30%) HP:0001012
5 biliary tract abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001080
6 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
7 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
8 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
9 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
10 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
11 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
12 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
13 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
14 hyperlipidemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003077
15 abnormality of urine homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003110
16 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
17 neonatal cholestatic liver disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006566
18 acholic stools 59 32 hallmark (90%) Very frequent (99-80%) HP:0011985
19 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
20 abnormality of the lymphatic system 59 Very frequent (99-80%)
21 erysipelas 32 HP:0001055
22 malabsorption 32 HP:0002024
23 conjugated hyperbilirubinemia 32 HP:0002908
24 elevated hepatic transaminases 32 HP:0002910
25 elevated alkaline phosphatase 32 HP:0003155

UMLS symptoms related to Cholestasis-Lymphedema Syndrome:


icterus

Drugs & Therapeutics for Cholestasis-Lymphedema Syndrome

Search Clinical Trials , NIH Clinical Center for Cholestasis-Lymphedema Syndrome

Cochrane evidence based reviews: aagenaes syndrome

Genetic Tests for Cholestasis-Lymphedema Syndrome

Anatomical Context for Cholestasis-Lymphedema Syndrome

MalaCards organs/tissues related to Cholestasis-Lymphedema Syndrome:

41
Skin, Liver, Bone

Publications for Cholestasis-Lymphedema Syndrome

Articles related to Cholestasis-Lymphedema Syndrome:

# Title Authors Year
1
Angioid streaks in aagenaes syndrome. ( 27614462 )
2016
2
Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1. ( 25039919 )
2014
3
Recurrent cellulitis in a case of Aagenaes syndrome. ( 19498211 )
2009
4
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. ( 10968776 )
2000
5
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. ( 9605254 )
1998
6
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). ( 9350821 )
1997

Variations for Cholestasis-Lymphedema Syndrome

Expression for Cholestasis-Lymphedema Syndrome

Search GEO for disease gene expression data for Cholestasis-Lymphedema Syndrome.

Pathways for Cholestasis-Lymphedema Syndrome

GO Terms for Cholestasis-Lymphedema Syndrome

Sources for Cholestasis-Lymphedema Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....