Chronic Congestive Splenomegaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Chronic Congestive Splenomegaly

MalaCards integrated aliases for Chronic Congestive Splenomegaly:

Name: Chronic Congestive Splenomegaly ¹² ¹⁵ ⁷¹ ³²

Classifications:

MalaCards categories:
Anatomical: Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Diseases of spleen

Chronic congestive splenomegaly

External Ids:

Disease Ontology ¹² DOID:11787

ICD9CM ³⁴ 289.51

SNOMED-CT ⁶⁷ 191382009

ICD10 ³² D73.2

UMLS ⁷¹ C0398661

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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

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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:

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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

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Drugs & Therapeutics for Chronic Congestive Splenomegaly

Search Clinical Trials , NIH Clinical Center for Chronic Congestive Splenomegaly

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Genetic Tests for Chronic Congestive Splenomegaly

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Anatomical Context for Chronic Congestive Splenomegaly

MalaCards organs/tissues related to Chronic Congestive Splenomegaly:

⁴⁰

Spleen

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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	Sun HY...Huang M	15840216	2005
2	[Chronic congestive splenomegaly secondary to aneurysm of the splenic artery]. ⁶¹	Pila Perez R...Arias Aguilera A	2091708	1990
3	Chronic congestive splenomegaly (Banti-like syndrome) in a dog. ⁶¹	GOYINGS LS...LANGHAM RF	13949648	1963
4	[Contribution to the pathogenesis of microcytic hypochromic non-post-hemorrhagic anemia during chronic congestive splenomegaly]. ⁶¹	PANAYOTOPOULOS E...TSAPAS G	14483487	1962
5	Chronic congestive splenomegaly with early jaundice. ⁶¹	FRIEDENBERG R...McQUEENEY AJ	13168205	1954

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Genes for Chronic Congestive Splenomegaly

Genes related to Chronic Congestive Splenomegaly (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACR	Acrosin	Protein Coding	5.52	DISEASES inferred ¹⁵
2	TERF2	Telomeric Repeat Binding Factor 2	Protein Coding	5.21	DISEASES inferred ¹⁵
3	TMBIM6	Transmembrane BAX Inhibitor Motif Containing 6	Protein Coding	5.2	DISEASES inferred ¹⁵
4	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	5.07	DISEASES inferred ¹⁵
5	ABCA3	ATP Binding Cassette Subfamily A Member 3	Protein Coding	4.87	DISEASES inferred ¹⁵
6	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	4.58	DISEASES inferred ¹⁵
7	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	4.55	DISEASES inferred ¹⁵
8	SFTPC	Surfactant Protein C	Protein Coding	4.51	DISEASES inferred ¹⁵
9	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	4.4	DISEASES inferred ¹⁵
10	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	4.15	DISEASES inferred ¹⁵
11	CXCL5	C-X-C Motif Chemokine Ligand 5	Protein Coding	4.13	DISEASES inferred ¹⁵
12	HFE	Homeostatic Iron Regulator	Protein Coding	3.99	DISEASES inferred ¹⁵
13	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	3.92	DISEASES inferred ¹⁵
14	TERT	Telomerase Reverse Transcriptase	Protein Coding	3.5	DISEASES inferred ¹⁵
15	EPO	Erythropoietin	Protein Coding	3.32	DISEASES inferred ¹⁵
16	SST	Somatostatin	Protein Coding	3.3	DISEASES inferred ¹⁵

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Variations for Chronic Congestive Splenomegaly

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Expression for Chronic Congestive Splenomegaly

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

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Pathways for Chronic Congestive Splenomegaly

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

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of Telomerase ¹	10.95	TERT TERF2 DKC1
2	Surfactant metabolism ⁶⁵ Show member pathways Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) ⁶⁵ Diseases associated with surfactant metabolism ⁶⁵	10.43	SLC34A2 SFTPC ABCA3
3	Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) ⁶⁰	10.23	CACNA1E CACNA1B

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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

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Sources for Chronic Congestive Splenomegaly

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⁵⁶ OMIM

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⁶⁹ TGDB

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⁷⁴ Wikipedia