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 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 gray zone lymphoma, 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 splenomegaly

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

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

(show top 50) (show all 227)
# Related Disease Score Top Affiliating Genes
1 lymphoma, hodgkin, classic 11.8
2 gray zone lymphoma 11.4
3 light chain deposition disease 11.3
4 cleft larynx, posterior 11.1
5 perrault syndrome 1 11.1
6 hypertrichosis lanuginosa congenita 11.1
7 multiple sclerosis 10.9
8 retinitis pigmentosa 10.5
9 tetralogy of fallot 10.5
10 hepatocellular carcinoma 10.1
11 lymphedema 10.1
12 hereditary lymphedema 10.1
13 cholestasis 10.1
14 sclerosing cholangitis 10.1
15 cholangitis 10.1
16 adenocarcinoma 10.1
17 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
18 polyarteritis nodosa, childhood-onset 10.0
19 b-cell lymphomas 10.0
20 lymphoma 10.0
21 heavy chain disease 10.0
22 triiodothyronine receptor auxiliary protein 10.0
23 angioid streaks 10.0
24 cellulitis 10.0
25 breast cancer 9.9
26 prostate cancer 9.9
27 lung cancer 9.9
28 liver cirrhosis 9.9
29 pancreatic cancer 9.9
30 fabry disease 9.9
31 lung cancer susceptibility 3 9.9
32 sclerosing cholangitis, neonatal 9.9
33 hepatitis 9.9
34 conn's syndrome 9.9
35 bladder cancer 9.8
36 colorectal cancer 9.8
37 small cell cancer of the lung 9.8
38 cerebrotendinous xanthomatosis 9.8
39 mucopolysaccharidosis-plus syndrome 9.8
40 liver disease 9.8
41 neuromyelitis optica 9.8
42 methemoglobinemia 9.8
43 spindle cell hemangioma 9.8
44 cleft lip 9.8
45 glioblastoma 9.8
46 hennekam syndrome 9.8 ALB CCBE1
47 obsessive-compulsive disorder 9.8
48 tyrosinemia, type i 9.8
49 adrenoleukodystrophy 9.8
50 anxiety 9.8

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
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

Human phenotypes related to Cholestasis-Lymphedema Syndrome:

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

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
Liver, Skin, Bone, Lung, Kidney, Heart, Myeloid

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
Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. ( 25317502 )
2014
4
Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes? ( 20170991 )
2010
5
Recurrent cellulitis in a case of Aagenaes syndrome. ( 19498211 )
2009
6
Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). ( 16635916 )
2006
7
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. ( 10968776 )
2000
8
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. ( 9605254 )
1998
9
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
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