LCS
MCID: CHL073
MIFTS: 40

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 58 13
Aagenaes Syndrome 57 12 73 20 58 44 15
Cholestasis-Edema Syndrome, Norwegian Type 12 70
Chls 57 20
Lcs 57 20
Lymphedema-Cholestasis Syndrome; Lcs; Lcs1 57
Lymphedema-Cholestasis Syndrome 57
Cholestasis Lymphedema Syndrome 20
Lymphedema Cholestasis Syndrome 20
Lcs1 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 214900
MeSH 44 C535330
NCIt 50 C35709
SNOMED-CT 67 28724005
ICD10 via Orphanet 33 Q82.0
UMLS via Orphanet 71 C0268314
Orphanet 58 ORPHA1414
MedGen 41 C0268314
UMLS 70 C0268314

Summaries for Cholestasis-Lymphedema Syndrome

GARD : 20 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 hereditary lymphedema i and hereditary lymphedema, and has symptoms including icterus An important gene associated with Cholestasis-Lymphedema Syndrome is LCS1 (Lymphedema-Cholestasis Syndrome 1). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include 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 : 73 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

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 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
5 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
6 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
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 multiple lipomas 58 31 frequent (33%) Frequent (79-30%) HP:0001012
14 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
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 erysipelas 31 HP:0001055
25 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Cholestasis-Lymphedema Syndrome:


icterus

GenomeRNAi Phenotypes related to Cholestasis-Lymphedema Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.44 CCBE1 HSD3B7
2 Decreased viability GR00381-A-1 9.44 AKR1D1 CCBE1 DUS3L FAM104B HSD3B7
3 Decreased viability GR00386-A-1 9.44 AKR1D1 DUS3L FAM104B HSD3B7
4 Decreased viability GR00402-S-2 9.44 AKR1D1 CCBE1

Drugs & Therapeutics for Cholestasis-Lymphedema Syndrome

Drugs for Cholestasis-Lymphedema Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
4
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
6
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
7
Ifosfamide Approved Phase 3 3778-73-2 3690
8
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
9
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
10
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
12
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
14
Etoposide Approved Phase 3 33419-42-0 36462
15
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
16
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
17
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
18
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
19
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
20
Cortisone Experimental Phase 3 53-06-5 222786
21 Anesthetics Phase 3
22
Abiraterone acetate Phase 3 154229-18-2 57336518
23 Cytochrome P-450 Enzyme Inhibitors Phase 3
24 Androgens Phase 3
25 Myeloma Proteins Phase 3
26 Paraproteins Phase 3
27
Isophosphamide mustard Phase 3 100427
28 Antibodies Phase 3
29 Immunoglobulins Phase 3
30 Etoposide phosphate Phase 3
31 Methylprednisolone Acetate Phase 3
32 Antibodies, Monoclonal Phase 3
33 Immunoconjugates Phase 3
34 Immunoglobulins, Intravenous Phase 3
35 Alkylating Agents Phase 3
36 Gastrointestinal Agents Phase 3
37 Neuroprotective Agents Phase 3
38 Protective Agents Phase 3
39 Hormone Antagonists Phase 3
40 Antirheumatic Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 glucocorticoids Phase 3
43 Hormones Phase 3
44 Keratolytic Agents Phase 3
45 Antiemetics Phase 3
46 Dermatologic Agents Phase 3
47 Anti-Inflammatory Agents Phase 3
48 Podophyllotoxin Phase 3 518-28-5
49
Mechlorethamine Approved, Investigational Phase 1, Phase 2 51-75-2 4033
50
Decitabine Approved, Investigational Phase 1, Phase 2 2353-33-5 451668

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Effect of Preoperative Oral Carbohydrates on Quality of Recovery: Randomized Controlled Trial Completed NCT02555020 Phase 3
2 An Open-label Extension (OLE), Expanded Access Study, to Assess Long-term Safety of SoluMatrix™ Abiraterone Acetate 500mg (4 x 125 mg qd) With Methylprednisolone (4mg Bid) in Patients Who Completed Study Number CHL-AA-201 Completed NCT02887976 Phase 3 SoluMatrix™ Abiraterone Acetate;Methylprednisolone
3 A Randomized,Open-label Phase III Study of Camrelizumab (SHR-1210) vs. Investigator's Choice of Chemotherapy in Participants With Relapsed or Refractory Classical Hodgkin Lymphoma (cHL) Recruiting NCT04342936 Phase 3 Camrelizumab;Investigator's choice of Chemotherapy
4 A Randomized Phase 3 Study of Brentuximab Vedotin (SGN-35) for Newly Diagnosed High-Risk Classical Hodgkin Lymphoma (cHL) in Children and Young Adults Active, not recruiting NCT02166463 Phase 3 Brentuximab Vedotin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Methylprednisolone;Prednisone;Vincristine Sulfate
5 AVENuE - Avelumab in the Frontline Treatment of Advanced Classical Hodgkin Lymphoma - a Window Study Recruiting NCT03617666 Phase 2 Avelumab
6 Clinical Efficacy of MOAP Regimen for Relapsed/Refractory Classical Hodgkin's Lymphoma as a Rescue Therapy After Ineffective Treatment of Additional Low-dose Decitabine to Anti-PD-1 Antibody Camrelizumab Recruiting NCT04026269 Phase 1, Phase 2 MOAP
7 A Randomized Phase IIb Study, Evaluating Efficacy of Salvage Therapy With Brentuximab Vedotin-ESHAP vs ESHAP in Patients With Relapsed / Refractory Classical Hodgkin's Lymphoma, Followed by Brentuximab Vedotin Consolidation (Instead of Autologous Hematopoietic Stem Cell Transplantation) in Those Who Attained a Metabolic Complete Remission After Salvage Therapy Recruiting NCT04378647 Phase 2 Induction with Brentuximab vedotin (BV);Induction without Brentuximab Vedotin;Consolidation with Brentuximab Vedotin
8 A Phase 2, Multicenter, Single-arm Study of Retreatment With Brentuximab Vedotin in Subjects With Relapsed or Refractory Classic Hodgkin Lymphoma (cHL) or CD30-expressing Peripheral T Cell Lymphoma (PTCL) Recruiting NCT03947255 Phase 2 brentuximab vedotin
9 A Phase 2 Front-Line PET/CT-2 Response-Adapted Brentuximab Vedotin and Nivolumab Incorporated and Radiation-Free Management of Early Stage Classical Hodgkin Lymphoma (cHL) Recruiting NCT03712202 Phase 2 Bleomycin;Brentuximab Vedotin;Dacarbazine;Doxorubicin;Vinblastine
10 Dexamethasone, Cytarabine, Cisplatin and Nivolumab in Patients With Relapsed or Refractory Classical Hodgkin Lymphoma (Nivo-DHAP-cHL) Recruiting NCT04091490 Phase 2 Nivolumab
11 Risk-based, Response-adapted, Phase II Open-label Trial of Nivolumab + Brentuximab Vedotin (N + Bv) for Children, Adolescents, and Young Adults With Relapsed/Refractory (R/R) CD30 + Classic Hodgkin Lymphoma (cHL) After Failure of First-line Therapy, Followed by Brentuximab + Bendamustine (Bv + B) for Participants With a Suboptimal Response (CheckMate 744: CHECKpoint Pathway and Nivolumab Clinical Trial Evaluation) Recruiting NCT02927769 Phase 2
12 A Phase II Clinical Trial of MK-3475 (Pembrolizumab) in Subjects With Relapsed or Refractory (R/R) Classical Hodgkin Lymphoma (cHL) Active, not recruiting NCT02453594 Phase 2
13 Non-Comparative, Multi-Cohort, Single Arm, Open-Label, Phase 2 Study of Nivolumab (BMS-936558) in Classical Hodgkin Lymphoma (cHL) Subjects Active, not recruiting NCT02181738 Phase 2 Nivolumab;Doxorubicin;Vinblastine;Dacarbazine
14 PD-1 Inhibitor or PD-1 Inhibitor Plus GVD(Gemcitabine, Vinorelbine and Doxorubicin Liposome) Regimen for Relapsed/Refractory Classical Hodgkin Lymphoma (R/R CHL): a Single Arm, Open Label, Phase II Study Not yet recruiting NCT04624984 Phase 2 PD-1 inhibitor;PD-1 inhibitor, gemcitabine, vinorelbine and doxorubicin liposome
15 An Open Label, Phase I/II Study to Evaluate the Safety and Efficacy of RP6530, a Novel PI3K δ/γ Dual Inhibitor Given in Combination With an Anti-PD-1 Therapy, Pembrolizumab in Adult Patients With Relapsed or Refractory cHL Terminated NCT03471351 Phase 1 Tenalisib
16 SoundBite Hearing System 24 Month Multi Site Patient Use Study Unknown status NCT01807559
17 Children's Healthy Living Program for Remote Underserved Minority Populations in the Pacific Region Completed NCT01881373
18 Effect of Oral Carbohydrate on Serum S-100β Protein and Development of Postoperative Delirium in Elderly Patients Completed NCT02706522
19 Retrospective, Multicentric, Observational Study to Evaluate the Efficacy and Safety of the Combination of an Immune Checkpoint Inhibitor (ICI) and Radiotherapy (RT) in Patients With Relapsed/Refractory (R/R) Classical Hodgkin Lymphoma (cHL) Recruiting NCT04419441 Immune checkpoint inhibitor
20 Observational Cohort Study to Characterize the Safety of Allogeneic Hematopoietic Cell Transplantation (HCT) For Patients With Classical Hodgkin Lymphoma (CHL) Treated With Nivolumab Recruiting NCT03200977
21 KLIO - Non-interventional Multicenter Prospective and Retrospective Study to Describe Treatment Patterns and Disease Control in Patients With Classical Hodgkin's Lymphoma (cHL) and Systemic Anaplastic Large Cell Lymphoma (sALCL) in Routine Clinical Practice in the Russian Federation Active, not recruiting NCT03942263
22 Prospective Study on Elderly (≥ 65 Years) Patients Affected With Classical Hodgkin Lymphoma Undergoing Comprehensive Geriatric Assessment at Diagnosis Not yet recruiting NCT03552003

Search 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
Liver, Bone

Publications for Cholestasis-Lymphedema Syndrome

Articles related to Cholestasis-Lymphedema Syndrome:

(show all 23)
# Title Authors PMID Year
1
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. 57 61
10968776 2000
2
Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. 57 61
9605254 1998
3
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). 61 57
9350821 1997
4
Hereditary recurrent cholestasis with lymphoedema--two new families. 57
4857709 1974
5
Hereditary lymphedema and obstructive jaundice. 57
5544157 1971
6
Lymphoedema in hereditary recurrent cholestasis from birth. 57
5477684 1970
7
Hereditary recurrent intrahepatic cholestasis from birth. 57
5702224 1968
8
MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors. 61
32932426 2020
9
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). 61
30755100 2018
10
Quality of life in adults with lymphedema cholestasis syndrome 1. 61
30045736 2018
11
Angioid streaks in aagenaes syndrome. 61
27614462 2017
12
Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1. 61
25039919 2015
13
Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome. 61
25317502 2014
14
Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description. 61
23626552 2013
15
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. 61
24086631 2013
16
Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes? 61
20170991 2010
17
Recurrent cellulitis in a case of Aagenaes syndrome. 61
19498211 2009
18
Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). 61
16635916 2006
19
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. 61
12712065 2003
20
[Aagenaes syndrome--lymphedema and intrahepatic cholestasis]. 61
11446017 2001
21
[Aagenaes syndrome]. 61
8749542 1995
22
[Hereditary intrahepatic cholestasis with lymphedema--Aagenaes syndrome]. 61
8278949 1993
23
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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