LCS
MCID: CHL073
MIFTS: 37

Cholestasis-Lymphedema Syndrome (LCS)

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

Aliases & Classifications for Cholestasis-Lymphedema Syndrome

MalaCards integrated aliases for Cholestasis-Lymphedema Syndrome:

Name: Cholestasis-Lymphedema Syndrome 56 58 13
Aagenaes Syndrome 56 12 74 52 58 43 15
Cholestasis-Edema Syndrome, Norwegian Type 12 71
Chls 56 52
Lcs 56 52
Lymphedema-Cholestasis Syndrome; Lcs; Lcs1 56
Lymphedema-Cholestasis Syndrome 56
Cholestasis Lymphedema Syndrome 52
Lymphedema Cholestasis Syndrome 52
Lcs1 52

Characteristics:

Orphanet epidemiological data:

58
cholestasis-lymphedema syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
cholestasis-lymphedema syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare hepatic diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:6691
OMIM 56 214900
MeSH 43 C535330
NCIt 49 C35709
SNOMED-CT 67 28724005
ICD10 via Orphanet 33 Q82.0
UMLS via Orphanet 72 C0268314
Orphanet 58 ORPHA1414
MedGen 41 C0268314
UMLS 71 C0268314

Summaries for Cholestasis-Lymphedema Syndrome

NIH Rare Diseases : 52 Aagenaes syndrome , or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic 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 lymphedema and hereditary lymphedema, 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 nausea and vomiting and hepatomegaly

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

More information from OMIM: 214900

Related Diseases for Cholestasis-Lymphedema Syndrome

Diseases related to Cholestasis-Lymphedema Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 732)
# Related Disease Score Top Affiliating Genes
1 lymphedema 30.0 SOX18 CCBE1
2 hereditary lymphedema 30.0 SOX18 CCBE1
3 cholestasis 29.9 UTP4 LCS1 HSD3B7
4 lymphoma, hodgkin, classic 12.2
5 gray zone lymphoma 11.6
6 light chain deposition disease 11.4
7 hypertrichosis lanuginosa congenita 11.2
8 cleft larynx, posterior 11.2
9 laryngeal cleft 11.2
10 meester-loeys syndrome 10.3
11 polyploidy 10.3
12 retinitis pigmentosa 18 10.3
13 helix syndrome 10.3
14 liver cirrhosis 10.2
15 hepatocellular carcinoma 10.2
16 lipoid congenital adrenal hyperplasia 10.2
17 chronic kidney disease 10.2
18 rapidly involuting congenital hemangioma 10.2
19 liver disease 10.1
20 fetal akinesia deformation sequence 2 10.1
21 colorectal cancer 10.1
22 cystic fibrosis 10.1
23 pancreatic cancer 10.1
24 neuroblastoma 10.1
25 myeloma, multiple 10.1
26 ectodermal dysplasia-syndactyly syndrome 2 10.1
27 lymphocytic leukemia 10.1
28 bacterial infectious disease 10.1
29 impotence 10.1
30 pseudoxanthoma elasticum 10.1
31 angioid streaks 10.1
32 dentin caries 10.1
33 ehlers-danlos syndrome 10.1
34 acromegaly 10.1
35 mammary paget's disease 10.1
36 cellulitis 10.1
37 periodontitis 10.1
38 47,xyy 10.1
39 familial intrahepatic cholestasis 10.1
40 autosomal recessive disease 10.1
41 sclerosing cholangitis 10.1
42 cholangitis 10.1
43 leukemia, acute myeloid 10.1
44 renal cell carcinoma, nonpapillary 10.0
45 ovarian cancer 10.0
46 inherited metabolic disorder 10.0
47 dentinogenesis imperfecta type 2 10.0
48 pik3ca-related overgrowth syndrome 10.0
49 breast cancer 10.0
50 attention deficit-hyperactivity disorder 10.0

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



Diseases related to Cholestasis-Lymphedema Syndrome

Symptoms & Phenotypes for Cholestasis-Lymphedema Syndrome

Human phenotypes related to Cholestasis-Lymphedema Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
5 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
6 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
7 hyperlipidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003077
8 biliary tract abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001080
9 abnormality of urine homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003110
10 neonatal cholestatic liver disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006566
11 acholic stools 58 31 hallmark (90%) Very frequent (99-80%) HP:0011985
12 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
13 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
14 multiple lipomas 58 31 frequent (33%) Frequent (79-30%) HP:0001012
15 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
16 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
17 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
18 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
19 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
20 malabsorption 31 HP:0002024
21 elevated hepatic transaminase 31 HP:0002910
22 abnormality of the lymphatic system 58 Very frequent (99-80%)
23 conjugated hyperbilirubinemia 31 HP:0002908
24 elevated alkaline phosphatase 31 HP:0003155
25 erysipelas 31 HP:0001055

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
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

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:

40
Skin, Liver, Bone

Publications for Cholestasis-Lymphedema Syndrome

Articles related to Cholestasis-Lymphedema Syndrome:

(show all 22)
# Title Authors PMID Year
1
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. 61 56
10968776 2000
2
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. 56 61
9605254 1998
3
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). 61 56
9350821 1997
4
Hereditary recurrent cholestasis with lymphoedema--two new families. 56
4857709 1974
5
Hereditary lymphedema and obstructive jaundice. 56
5544157 1971
6
Lymphoedema in hereditary recurrent cholestasis from birth. 56
5477684 1970
7
Hereditary recurrent intrahepatic cholestasis from birth. 56
5702224 1968
8
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). 61
30755100 2018
9
Quality of life in adults with lymphedema cholestasis syndrome 1. 61
30045736 2018
10
Angioid streaks in aagenaes syndrome. 61
27614462 2017
11
Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1. 61
25039919 2015
12
Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome. 61
25317502 2014
13
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. 61
24086631 2013
14
Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description. 61
23626552 2013
15
Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes? 61
20170991 2010
16
Recurrent cellulitis in a case of Aagenaes syndrome. 61
19498211 2009
17
Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). 61
16635916 2006
18
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. 61
12712065 2003
19
[Aagenaes syndrome--lymphedema and intrahepatic cholestasis]. 61
11446017 2001
20
[Aagenaes syndrome]. 61
8749542 1995
21
[Hereditary intrahepatic cholestasis with lymphedema--Aagenaes syndrome]. 61
8278949 1993
22
Liver enzyme ratios in neonatal liver disease. 61
6524089 1984

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

Biological processes related to Cholestasis-Lymphedema Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bile acid biosynthetic process GO:0006699 9.16 HSD3B7 AKR1D1
2 lymphangiogenesis GO:0001946 8.96 SOX18 CCBE1
3 lymph vessel development GO:0001945 8.62 SOX18 CCBE1

Sources for Cholestasis-Lymphedema Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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