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

MalaCards based summary: Chronic Congestive Splenomegaly is related to splenomegaly and surfactant dysfunction. An important gene associated with Chronic Congestive Splenomegaly is ACR (Acrosin), and among its related pathways/superpathways are Diseases of glycosylation and Surfactant metabolism. Affiliated tissues include spleen, and related phenotypes are homeostasis/metabolism and neoplasm

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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 top 50) (show all 52)

#	Related Disease	Score	Top Affiliating Genes
1	splenomegaly	10.3
2	surfactant dysfunction	10.3	SFTPC ABCA3
3	respiratory distress syndrome in premature infants	10.3	SFTPC ABCA3
4	hereditary pulmonary alveolar proteinosis	10.3	SFTPC ABCA3
5	pulmonary interstitial emphysema	10.2	SFTPC ABCA3
6	lipid pneumonia	10.2	SFTPC ABCA3
7	pulmonary immaturity	10.2	SFTPC ABCA3
8	interstitial pneumonitis, desquamative, familial	10.2	SFTPC ABCA3
9	neonatal respiratory failure	10.2	SFTPC ABCA3
10	pulmonary alveolar microlithiasis	10.2	SLC34A2 ABCA3
11	nutmeg liver	10.2	ALB ACR
12	pulmonary hemosiderosis	10.1	SLC34A2 SFTPC ABCA3
13	nonspecific interstitial pneumonia	10.1	SFTPC ABCA3
14	tuberculous empyema	10.1	AVPR2 ALB
15	acquired hemangioma	10.1	CD34 ACR
16	colonic lymphangioma	10.1	CD34 ACR
17	central pontine myelinolysis	10.1	AVPR2 ALB
18	supine hypotensive syndrome	10.1	ALB ACR
19	volvulus of midgut	10.1	ALB ACR
20	secondary hypertrophic osteoarthropathy	10.1	SLC34A2 CD34
21	familial adenomatous polyposis 1	10.1	PMS2 AVPR2
22	dipetalonemiasis	10.1	MT-CO1 ALB
23	capillariasis	10.1	MT-CO1 ALB
24	epilepsy, familial temporal lobe, 2	10.0	MT-CO1 BCHE
25	nemaline myopathy 3	10.0	MT-CO1 ALB
26	chronic meningitis	10.0	MT-CO1 ALB
27	inappropriate adh syndrome	10.0	AVPR2 ALB
28	meningovascular neurosyphilis	10.0	MT-CO1 ALB
29	newborn respiratory distress syndrome	10.0	SFTPC ALB ABCA3
30	tick infestation	10.0	MT-CO1 ALB
31	bartonellosis	10.0	MT-CO1 CD34
32	taeniasis	10.0	MT-CO1 ALB
33	peliosis hepatis	9.9	CD34 ALB
34	bile duct cystadenoma	9.9	CD34 ALB
35	cervical adenosarcoma	9.9	PMS2 CD34
36	pulmonary hypertension, primary, 1	9.9	PMS2 ABCA3
37	liver leiomyosarcoma	9.9	CD34 ALB
38	meckel diverticulum	9.9	CD34 ALB
39	babesiosis	9.9	MT-CO1 ALB
40	parasitic ectoparasitic infectious disease	9.9	MT-CO1 ALB
41	hemorrhagic cystitis	9.9	CD34 ALB
42	fascioliasis	9.8	MT-CO1 ALB
43	beta-thalassemia major	9.8	HFE CD34 ALB
44	occupational asthma	9.8	IL33 ALB
45	environmental induced asthma	9.8	IL33 ALB
46	hemoglobinopathy	9.8	HFE CD34 ALB
47	respiratory failure	9.7	SFTPC PMS2 ALB ABCA3
48	pancytopenia	9.7	DKC1 CD34 ALB
49	parasitic helminthiasis infectious disease	9.6	MT-CO1 IL33 ALB
50	cecal disease	9.6	CD34 ALB

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

GenomeRNAi Phenotypes related to Chronic Congestive Splenomegaly according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.11	ABCA3 ACR ALB AVPR2 BCHE CD34
2	no effect	GR00402-S-2	10.11	ACR ALB AVPR2 BCHE CD34 CXCL5

MGI Mouse Phenotypes related to Chronic Congestive Splenomegaly:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.83	ABCA3 ALB AVPR2 BCHE CD34 CXCL5
2	neoplasm	MP:0002006	9.63	ALB CD34 DKC1 GPC1 PMS2 SFTPC
3	mortality/aging	MP:0010768	9.4	ABCA3 ALB AVPR2 BCHE CXCL5 DKC1

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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

Organs/tissues related to Chronic Congestive Splenomegaly:

MalaCards : Spleen

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Publications for Chronic Congestive Splenomegaly

Articles related to Chronic Congestive Splenomegaly:

#	Title	Authors	PMID	Year
1	Rare case of upper gastrointestinal hemorrhage due to accessory spleen: A case report. ⁶²	Liu Y...Ran E	35945721	2022
2	[The clinical application of splenectomy in pyrexia of unknown origin with splenomegaly]. ⁶²	Sun HY...Huang M	15840216	2005
3	[Chronic congestive splenomegaly secondary to aneurysm of the splenic artery]. ⁶²	Pila Perez R...Arias Aguilera A	2091708	1990
4	Chronic congestive splenomegaly (Banti-like syndrome) in a dog. ⁶²	GOYINGS LS...LANGHAM RF	13949648	1963
5	[Contribution to the pathogenesis of microcytic hypochromic non-post-hemorrhagic anemia during chronic congestive splenomegaly]. ⁶²	PANAYOTOPOULOS E...TSAPAS G	14483487	1962
6	Chronic congestive splenomegaly with early jaundice. ⁶²	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 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACR	Acrosin	Protein Coding	4.95	DISEASES inferred ¹⁴
2	TMBIM6	Transmembrane BAX Inhibitor Motif Containing 6	Protein Coding	4.5	DISEASES inferred ¹⁴
3	TERF2	Telomeric Repeat Binding Factor 2	Protein Coding	4.45	DISEASES inferred ¹⁴
4	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	4.3	DISEASES inferred ¹⁴
5	ABCA3	ATP Binding Cassette Subfamily A Member 3	Protein Coding	4.15	DISEASES inferred ¹⁴
6	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	3.9	DISEASES inferred ¹⁴
7	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	3.87	DISEASES inferred ¹⁴
8	SFTPC	Surfactant Protein C	Protein Coding	3.8	DISEASES inferred ¹⁴
9	GPC1	Glypican 1	Protein Coding	3.67	DISEASES inferred ¹⁴
10	HFE	Homeostatic Iron Regulator	Protein Coding	3.37	DISEASES inferred ¹⁴
11	CXCL5	C-X-C Motif Chemokine Ligand 5	Protein Coding	3.28	DISEASES inferred ¹⁴
12	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	3.28	DISEASES inferred ¹⁴
13	BCHE	Butyrylcholinesterase	Protein Coding	3.16	DISEASES inferred ¹⁴
14	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	3.09	DISEASES inferred ¹⁴
15	CD34	CD34 Molecule	Protein Coding	3.03	DISEASES inferred ¹⁴
16	IL33	Interleukin 33	Protein Coding	2.9	DISEASES inferred ¹⁴
17	ALB	Albumin	Protein Coding	2.86	DISEASES inferred ¹⁴

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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	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	11.91	SLC34A2 SFTPC GPC1 ABCA3
2	Surfactant metabolism ⁶⁶ Show member pathways Diseases associated with surfactant metabolism ⁶⁶	10.38	SLC34A2 SFTPC ABCA3

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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	lamellar body	GO:0042599	9.26	SFTPC ABCA3
2	alveolar lamellar body	GO:0097208	8.92	SFTPC ABCA3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of immunoglobulin production	GO:0002638	8.92	TMBIM6 IL33

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

#	Name	GO ID	Score	Top Affiliating Genes
1	copper ion binding	GO:0005507	9.43	GPC1 ALB ACR
2	telomerase activity	GO:0003720	8.92	TERF2 DKC1

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Sources for Chronic Congestive Splenomegaly

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHR058 MIFTS: 26	Chronic Congestive Splenomegaly Categories: Blood diseases, Immune diseases	Data Licensing For inquiries, contact: [email protected]
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