LCS
MCID: CHL073
MIFTS: 38

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 58 60 13
Aagenaes Syndrome 58 12 77 54 60 45 15
Cholestasis-Edema Syndrome, Norwegian Type 12 74
Chls 58 54
Lcs 58 54
Lymphedema-Cholestasis Syndrome; Lcs; Lcs1 58
Lymphedema-Cholestasis Syndrome 58
Cholestasis Lymphedema Syndrome 54
Lymphedema Cholestasis Syndrome 54
Lcs1 54

Characteristics:

Orphanet epidemiological data:

60
cholestasis-lymphedema syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
cholestasis-lymphedema syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis-Lymphedema Syndrome

NIH Rare Diseases : 54 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 cholangitis and liver cirrhosis, and has symptoms including icterus An important gene associated with Cholestasis-Lymphedema Syndrome is LCS1 (Lymphedema-Cholestasis Syndrome 1). Affiliated tissues include liver, skin 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 : 77 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

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

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 cholangitis 29.7 ALB GPT
2 liver cirrhosis 29.4 ALB GPT
3 cholecystitis 29.4 ALB GPT
4 infantile liver failure syndrome 1 29.2 ALB GPT
5 acute liver failure 29.2 ALB GPT
6 cholelithiasis 29.1 ALB GPT
7 hepatitis b 29.1 ALB GPT
8 liver disease 29.0 ALB GPT
9 lymphoma, hodgkin, classic 12.0
10 gray zone lymphoma 11.5
11 light chain deposition disease 11.3
12 cleft larynx, posterior 11.1
13 perrault syndrome 1 11.1
14 hypertrichosis lanuginosa congenita 11.1
15 multiple sclerosis 11.1
16 tetralogy of fallot 10.8
17 retinitis pigmentosa 10.6
18 lymphoma 10.2
19 hepatocellular carcinoma 10.1
20 caronte 10.1
21 lymphedema 10.1
22 hereditary lymphedema 10.1
23 cholestasis 10.1
24 sclerosing cholangitis 10.1
25 breast cancer 10.1
26 angioid streaks 10.0
27 cellulitis 10.0
28 lung cancer 10.0
29 adenocarcinoma 10.0
30 pulmonary alveolar microlithiasis 10.0
31 isolated optic neuritis 10.0
32 triiodothyronine receptor auxiliary protein 9.9
33 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
34 body mass index quantitative trait locus 11 9.9
35 salla disease 9.9
36 body mass index quantitative trait locus 10 9.9
37 body mass index quantitative trait locus 14 9.9
38 body mass index quantitative trait locus 18 9.9
39 polyarteritis nodosa, childhood-onset 9.9
40 body mass index quantitative trait locus 19 9.9
41 b-cell lymphomas 9.9
42 heavy chain disease 9.9
43 chlamydia 9.9
44 melanoma 9.9
45 papilloma 9.9
46 herpes simplex 9.9
47 cervical intraepithelial neoplasia 9.9
48 colorectal cancer 9.9
49 prostate cancer 9.9
50 pancreatic cancer 9.9

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
5 lymphedema 60 33 hallmark (90%) Very frequent (99-80%) HP:0001004
6 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
7 hyperlipidemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003077
8 biliary tract abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0001080
9 abnormality of urine homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003110
10 neonatal cholestatic liver disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0006566
11 acholic stools 60 33 hallmark (90%) Very frequent (99-80%) HP:0011985
12 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
13 multiple lipomas 60 33 frequent (33%) Frequent (79-30%) HP:0001012
14 abnormality of skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0001000
15 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
16 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
17 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
18 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
19 bone pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002653
20 malabsorption 33 HP:0002024
21 abnormality of the lymphatic system 60 Very frequent (99-80%)
22 conjugated hyperbilirubinemia 33 HP:0002908
23 elevated alkaline phosphatase 33 HP:0003155
24 erysipelas 33 HP:0001055
25 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
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:

42
Liver, Skin, Bone

Publications for Cholestasis-Lymphedema Syndrome

Articles related to Cholestasis-Lymphedema Syndrome:

# Title Authors Year
1
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). ( 30755100 )
2018
2
Angioid streaks in aagenaes syndrome. ( 27614462 )
2016
3
Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1. ( 25039919 )
2014
4
Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. ( 25317502 )
2014
5
Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes? ( 20170991 )
2010
6
Recurrent cellulitis in a case of Aagenaes syndrome. ( 19498211 )
2009
7
Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). ( 16635916 )
2006
8
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. ( 10968776 )
2000
9
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. ( 9605254 )
1998
10
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

Molecular functions related to Cholestasis-Lymphedema Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 8.62 ALB GPT

Sources for Cholestasis-Lymphedema Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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