MCID: CHR058
MIFTS: 26

Chronic Congestive Splenomegaly

Categories: Blood diseases, Immune diseases

Aliases & Classifications for Chronic Congestive Splenomegaly

MalaCards integrated aliases for Chronic Congestive Splenomegaly:

Name: Chronic Congestive Splenomegaly 12 15 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:11787
ICD9CM 34 289.51
SNOMED-CT 67 191382009
ICD10 32 D73.2
UMLS 71 C0398661

Summaries for Chronic Congestive Splenomegaly

MalaCards based summary : Chronic Congestive Splenomegaly is related to splenomegaly and respiratory distress syndrome, infant. An important gene associated with Chronic Congestive Splenomegaly is ACR (Acrosin), and among its related pathways/superpathways are Regulation of Telomerase and Surfactant metabolism. Affiliated tissues include spleen, and related phenotypes are homeostasis/metabolism and mortality/aging

Related Diseases for Chronic Congestive Splenomegaly

Diseases related to Chronic Congestive Splenomegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 splenomegaly 10.3
2 respiratory distress syndrome, infant 10.2 SFTPC ABCA3
3 respiratory distress syndrome in premature infants 10.2 SFTPC ABCA3
4 surfactant dysfunction 10.2 SFTPC ABCA3
5 interstitial emphysema 10.2 SFTPC ABCA3
6 surfactant metabolism dysfunction, pulmonary, 1 10.2 SFTPC ABCA3
7 lipid pneumonia 10.2 SFTPC ABCA3
8 pulmonary immaturity 10.2 SFTPC ABCA3
9 pulmonary alveolar microlithiasis 10.2 SLC34A2 ABCA3
10 neonatal respiratory failure 10.2 SFTPC ABCA3
11 interstitial pneumonitis, desquamative, familial 10.2 SFTPC ABCA3
12 pulmonary valve insufficiency 10.1 PMS2 ABCA3
13 newborn respiratory distress syndrome 10.1 SFTPC ABCA3
14 haemophilus meningitis 10.0 SST SFTPC
15 revesz syndrome 10.0 TERT DKC1
16 nonspecific interstitial pneumonia 10.0 SFTPC CXCL5 ABCA3
17 beta-thalassemia major 9.9 TERT HFE
18 hoyeraal hreidarsson syndrome 9.9 TERT TERF2 DKC1
19 dyskeratosis congenita, x-linked 9.9 TERT DKC1
20 duodenum cancer 9.9 SST PMS2
21 pulmonary hypertension, primary, 1 9.9 PMS2 ABCA3
22 pituitary carcinoma 9.9 SST PMS2
23 dyskeratosis congenita autosomal dominant 9.9 TERT DKC1
24 duodenum disease 9.9 SST PMS2
25 pulmonary fibrosis 9.9 TERT SFTPC ABCA3
26 acute interstitial pneumonia 9.9 TERT SFTPC ABCA3
27 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.8 SFTPC ABCA3
28 interstitial lung disease 9.8 TERT SFTPC ABCA3
29 chronic mountain sickness 9.8 SST EPO
30 hemosiderosis 9.7 HFE EPO
31 malignant pheochromocytoma 9.7 TERT SST
32 microvascular complications of diabetes 1 9.6 SST HFE EPO
33 pancytopenia 9.6 TERT EPO DKC1
34 pulmonary fibrosis, idiopathic 9.5 TERT SFTPC DKC1 CXCL5 ABCA3
35 dyskeratosis congenita 9.5 TERT TERF2 EPO DKC1
36 respiratory failure 9.5 SFTPC PMS2 EPO ABCA3
37 aplastic anemia 9.2 TERT TERF2 HFE EPO DKC1

Comorbidity relations with Chronic Congestive Splenomegaly via Phenotypic Disease Network (PDN):


Alcoholic Liver Cirrhosis Deficiency Anemia
Hypersplenism Portal Hypertension

Graphical network of the top 20 diseases related to Chronic Congestive Splenomegaly:



Diseases related to Chronic Congestive Splenomegaly

Symptoms & Phenotypes for Chronic Congestive Splenomegaly

MGI Mouse Phenotypes related to Chronic Congestive Splenomegaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ABCA3 AVPR2 DKC1 EPO HFE PMS2
2 mortality/aging MP:0010768 9.7 ABCA3 AVPR2 DKC1 EPO HFE PMS2
3 respiratory system MP:0005388 9.1 ABCA3 DKC1 EPO SFTPC SLC34A2 TERT

Drugs & Therapeutics for Chronic Congestive Splenomegaly

Search Clinical Trials , NIH Clinical Center for Chronic Congestive Splenomegaly

Genetic Tests for Chronic Congestive Splenomegaly

Anatomical Context for Chronic Congestive Splenomegaly

MalaCards organs/tissues related to Chronic Congestive Splenomegaly:

40
Spleen

Publications for Chronic Congestive Splenomegaly

Articles related to Chronic Congestive Splenomegaly:

# Title Authors PMID Year
1
[The clinical application of splenectomy in pyrexia of unknown origin with splenomegaly]. 61
15840216 2005
2
[Chronic congestive splenomegaly secondary to aneurysm of the splenic artery]. 61
2091708 1990
3
Chronic congestive splenomegaly (Banti-like syndrome) in a dog. 61
13949648 1963
4
[Contribution to the pathogenesis of microcytic hypochromic non-post-hemorrhagic anemia during chronic congestive splenomegaly]. 61
14483487 1962
5
Chronic congestive splenomegaly with early jaundice. 61
13168205 1954

Variations for Chronic Congestive Splenomegaly

Expression for Chronic Congestive Splenomegaly

Search GEO for disease gene expression data for Chronic Congestive Splenomegaly.

Pathways for Chronic Congestive Splenomegaly

Pathways related to Chronic Congestive Splenomegaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 TERT TERF2 DKC1
2
Show member pathways
10.43 SLC34A2 SFTPC ABCA3

GO Terms for Chronic Congestive Splenomegaly

Cellular components related to Chronic Congestive Splenomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomerase holoenzyme complex GO:0005697 9.16 TERT DKC1
2 nuclear telomere cap complex GO:0000783 8.96 TERT TERF2
3 alveolar lamellar body GO:0097208 8.62 SFTPC ABCA3

Biological processes related to Chronic Congestive Splenomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.61 SLC34A2 SFTPC ABCA3
2 acute-phase response GO:0006953 9.4 HFE EPO
3 response to steroid hormone GO:0048545 9.37 SST ACR
4 negative regulation of cellular senescence GO:2000773 9.32 TERT TERF2
5 positive regulation of nitric-oxide synthase activity GO:0051000 9.26 TERT TERF2
6 telomere maintenance via telomerase GO:0007004 9.16 TERT DKC1
7 RNA-dependent DNA biosynthetic process GO:0006278 8.96 TERT TERF2
8 negative regulation of calcium ion transport into cytosol GO:0010523 8.62 TMBIM6 EPO

Molecular functions related to Chronic Congestive Splenomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomeric DNA binding GO:0042162 9.16 TERT TERF2
2 telomerase RNA binding GO:0070034 8.96 TERT DKC1
3 telomerase activity GO:0003720 8.8 TERT TERF2 DKC1

Sources for Chronic Congestive Splenomegaly

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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