MCID: SPL069
MIFTS: 10

Splenoportal Vascular Anomalies

Categories: Cardiovascular diseases

Aliases & Classifications for Splenoportal Vascular Anomalies

MalaCards integrated aliases for Splenoportal Vascular Anomalies:

Name: Splenoportal Vascular Anomalies 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive
? secondary to hepatic fibrosis or same as polycystic kidney, type i


HPO:

31
splenoportal vascular anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 271500
MedGen 41 C0340826

Summaries for Splenoportal Vascular Anomalies

MalaCards based summary : Splenoportal Vascular Anomalies is related to portal hypertension. Affiliated tissues include kidney, and related phenotypes are diabetes mellitus and splenomegaly

More information from OMIM: 271500

Related Diseases for Splenoportal Vascular Anomalies

Diseases related to Splenoportal Vascular Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 portal hypertension 10.1

Symptoms & Phenotypes for Splenoportal Vascular Anomalies

Human phenotypes related to Splenoportal Vascular Anomalies:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 HP:0000819
2 splenomegaly 31 HP:0001744
3 ascites 31 HP:0001541
4 cirrhosis 31 HP:0001394
5 hepatic fibrosis 31 HP:0001395
6 hyperammonemia 31 HP:0001987
7 anomalous splenoportal venous system 31 HP:0005201
8 chronic hepatic encephalopathy 31 HP:0007111

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
splenomegaly
ascites
anomalous splenoportal venous system

Lab:
hyperammonemia

Metabolic:
mild diabetes mellitus

G I:
hepatic fibrosis
compensated cirrhosis

Neuro:
chronic hepatic encephalopathy

Radiology:
splenic venograph shows splenocaval shunt

Clinical features from OMIM:

271500

Drugs & Therapeutics for Splenoportal Vascular Anomalies

Search Clinical Trials , NIH Clinical Center for Splenoportal Vascular Anomalies

Genetic Tests for Splenoportal Vascular Anomalies

Anatomical Context for Splenoportal Vascular Anomalies

MalaCards organs/tissues related to Splenoportal Vascular Anomalies:

40
Kidney

Publications for Splenoportal Vascular Anomalies

Articles related to Splenoportal Vascular Anomalies:

# Title Authors PMID Year
1
FAMILIAL OCCURRENCE OF CONGENITAL SPLENOPORTAL ANOMALIES. 56
14275729 1965

Variations for Splenoportal Vascular Anomalies

Expression for Splenoportal Vascular Anomalies

Search GEO for disease gene expression data for Splenoportal Vascular Anomalies.

Pathways for Splenoportal Vascular Anomalies

GO Terms for Splenoportal Vascular Anomalies

Sources for Splenoportal Vascular Anomalies

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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