MCID: CHR058
MIFTS: 27

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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities and surfactant dysfunction. 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 36)
# Related Disease Score Top Affiliating Genes
1 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 28.9 HFE EPO
2 surfactant dysfunction 10.3 SFTPC ABCA3
3 interstitial emphysema 10.3 SFTPC ABCA3
4 respiratory distress syndrome in premature infants 10.3 SFTPC ABCA3
5 pulmonary immaturity 10.3 SFTPC ABCA3
6 interstitial pneumonitis, desquamative, familial 10.3 SFTPC ABCA3
7 splenomegaly 10.3
8 neonatal respiratory failure 10.3 SFTPC ABCA3
9 acute interstitial pneumonia 10.3 SFTPC ABCA3
10 pulmonary alveolar microlithiasis 10.2 SLC34A2 ABCA3
11 pulmonary hypertension, primary, 1 10.1 PMS2 ABCA3
12 postgastrectomy syndrome 10.1 SST CACNA1E
13 pulmonary fibrosis, familial 10.1 TERT SFTPC
14 duodenogastric reflux 10.0 SST CACNA1E
15 nonspecific interstitial pneumonia 10.0 SFTPC CXCL5 ABCA3
16 dyskeratosis congenita, autosomal dominant 1 10.0 TERT DKC1
17 revesz syndrome 10.0 TERT DKC1
18 deficiency anemia 10.0
19 aneurysm 10.0
20 autoimmune autonomic ganglionopathy 9.9 EPO CACNA1B
21 hoyeraal hreidarsson syndrome 9.9 TERT TERF2 DKC1
22 pulmonary fibrosis 9.9 TERT SFTPC ABCA3
23 duodenum cancer 9.8 SST PMS2
24 pituitary carcinoma 9.8 SST PMS2
25 dyskeratosis congenita, x-linked 9.8 TERT DKC1
26 duodenum disease 9.8 SST PMS2
27 interstitial lung disease 9.8 TERT SFTPC ABCA3
28 chronic mountain sickness 9.7 SST EPO
29 melanoma, cutaneous malignant 1 9.6 TERT TERF2 PMS2
30 encephalomalacia 9.5 EPO AVPR2
31 pancytopenia 9.3 TERT EPO DKC1
32 pulmonary fibrosis, idiopathic 9.3 TERT SFTPC DKC1 CXCL5 ABCA3
33 respiratory failure 9.3 SFTPC PMS2 EPO ABCA3
34 dyskeratosis congenita 9.3 TERT TERF2 EPO DKC1
35 cystic kidney disease 9.2 SST EPO AVPR2
36 aplastic anemia 8.9 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCA3 AVPR2 CACNA1B CACNA1E DKC1 EPO
2 mortality/aging MP:0010768 9.93 ABCA3 AVPR2 CACNA1B DKC1 EPO HFE
3 normal MP:0002873 9.5 ACR CACNA1E DKC1 EPO HFE SST
4 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

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 voltage-gated calcium channel complex GO:0005891 9.26 CACNA1E CACNA1B
2 telomerase holoenzyme complex GO:0005697 9.16 TERT DKC1
3 nuclear telomere cap complex GO:0000783 8.96 TERT TERF2
4 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 response to steroid hormone GO:0048545 9.43 SST ACR
2 negative regulation of cellular senescence GO:2000773 9.4 TERT TERF2
3 calcium ion import GO:0070509 9.37 CACNA1E CACNA1B
4 positive regulation of nitric-oxide synthase activity GO:0051000 9.32 TERT TERF2
5 telomere maintenance via telomerase GO:0007004 9.26 TERT DKC1
6 membrane depolarization GO:0051899 9.16 CACNA1E CACNA1B
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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