MCID: SPL069
MIFTS: 9

Splenoportal Vascular Anomalies

Categories: Cardiovascular diseases

Aliases & Classifications for Splenoportal Vascular Anomalies

MalaCards integrated aliases for Splenoportal Vascular Anomalies:

Name: Splenoportal Vascular Anomalies 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive
? secondary to hepatic fibrosis or same as polycystic kidney, type i


HPO:

32
splenoportal vascular anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271500
MedGen 42 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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 splenomegaly 32 HP:0001744
3 ascites 32 HP:0001541
4 cirrhosis 32 HP:0001394
5 hepatic fibrosis 32 HP:0001395
6 hyperammonemia 32 HP:0001987
7 anomalous splenoportal venous system 32 HP:0005201
8 chronic hepatic encephalopathy 32 HP:0007111

Symptoms via clinical synopsis from OMIM:

57
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:

41
Kidney

Publications for Splenoportal Vascular Anomalies

Articles related to Splenoportal Vascular Anomalies:

# Title Authors PMID Year
1
FAMILIAL OCCURRENCE OF CONGENITAL SPLENOPORTAL ANOMALIES. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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