MCID: ASC009
MIFTS: 22

Ascites, Chylous malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ascites, Chylous

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ascites, Chylous:

Name: Ascites, Chylous 50
Chylous Ascites 46 52 66
 
Congenital Chylous Ascites 46 66
Ascites Chylous 48

Characteristics:

HPO:

62
ascites, chylous:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 208300
Orphanet52 ORPHA1160
ICD10 via Orphanet29 I89.8
MESH via Orphanet38 D002915
UMLS via Orphanet67 C0008732

Summaries for Ascites, Chylous

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MalaCards based summary: Ascites, Chylous, also known as chylous ascites, is related to peritonitis and pancreatitis, and has symptoms including lymphedema, abnormality of the skin and glaucoma. An important gene associated with Ascites, Chylous is SST (Somatostatin). Affiliated tissues include skin and lymph node.

Description from OMIM:50 208300

Related Diseases for Ascites, Chylous

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Diseases related to Ascites, Chylous via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1peritonitis10.4
2pancreatitis10.4
3aneurysm10.3
4pericarditis10.2
5aortic aneurysm10.2
6abdominal aortic aneurysm10.2
7lymphoma10.2
8constrictive pericarditis10.2
9lymphangioleiomyomatosis10.2
10nephrotic syndrome10.2
11tuberculosis10.2
12liver cirrhosis10.1
13lymphedema10.1
14sarcoma9.8

Graphical network of diseases related to Ascites, Chylous:



Diseases related to ascites, chylous

Symptoms for Ascites, Chylous

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Symptoms by clinical synopsis from OMIM:

208300

Clinical features from OMIM:

208300

Symptoms:

 52 (show all 7)
  • glaucoma
  • lymphedema
  • subcutaneous nodule
  • ascites
  • pancreatitis
  • abnormality of the intestine
  • neoplasm

HPO human phenotypes related to Ascites, Chylous:

(show all 8)
id Description Frequency HPO Source Accession
1 lymphedema hallmark (90%) HP:0001004
2 abnormality of the skin typical (50%) HP:0000951
3 glaucoma occasional (7.5%) HP:0000501
4 pancreatitis occasional (7.5%) HP:0001733
5 abnormality of the intestine occasional (7.5%) HP:0002242
6 neoplasm occasional (7.5%) HP:0002664
7 glaucoma HP:0000501
8 chylous ascites HP:0012281

Drugs & Therapeutics for Ascites, Chylous

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Drugs for Ascites, Chylous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SomatostatinPhase 221238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
2
OctreotidePhase 220683150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment With Octreotide in Patients With LymphangioleiomyomatosisCompletedNCT00005906Phase 2

Search NIH Clinical Center for Ascites, Chylous

Genetic Tests for Ascites, Chylous

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Anatomical Context for Ascites, Chylous

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MalaCards organs/tissues related to Ascites, Chylous:

34
Skin, Lymph node

Animal Models for Ascites, Chylous or affiliated genes

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Publications for Ascites, Chylous

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Articles related to Ascites, Chylous:

idTitleAuthorsYear
1
A curious case of ascites. Chylous ascites caused by Kaposi's sarcoma. (12647476)
2003

Variations for Ascites, Chylous

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Expression for genes affiliated with Ascites, Chylous

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Search GEO for disease gene expression data for Ascites, Chylous.

Pathways for genes affiliated with Ascites, Chylous

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GO Terms for genes affiliated with Ascites, Chylous

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Sources for Ascites, Chylous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet