portal hypertension, noncirrhotic, 2
MONDO:0030397Mondo
Findings
No curated finding names portal hypertension, noncirrhotic, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- SplenomegalyHPOHP:0001744
- 9 of 9 reported patients
- ThrombocytopeniaHPOHP:0001873
- 8 of 9 reported patients
- Esophageal varixHPOHP:0002040
- 7 of 9 reported patients
- Nodular regenerative hyperplasia of liverHPOHP:0011954
- 2 of 5 reported patients
- AscitesHPOHP:0001541
- 2 of 9 reported patients
- FatigueHPOHP:0012378
- 2 of 9 reported patients
- EcchymosisHPOHP:0031364
- 1 of 9 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 9 reported patients
- EpistaxisHPOHP:0000421
- 1 of 9 reported patients
- HemoptysisHPOHP:0002105
- 1 of 9 reported patients
- Hepatocellular carcinomaHPOHP:0001402
- 1 of 9 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 9 reported patients
Show the remaining 4
- PetechiaeHPOHP:0000967
- 1 of 9 reported patients
- Recurrent infectionsHPOHP:0002719
- 1 of 9 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Portal hypertensionHPOHP:0001409
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GIMAP5HGNC:18005
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: portal hypertension, noncirrhotic, 2
- Also called
- NCPH2