HYPERBILIRUBINEMIA, SHUNT, PRIMARY

General Information (adopted from Orphanet):

Synonyms, Signs: PSHB
Number of Symptoms 14
OrphanetNr:
OMIM Id: 237800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
2
(HPO:0001744) Splenomegaly 337 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0001923) Reticulocytosis 28 / 7739
5
(HPO:0010972) Anemia of inadequate production 10 / 7739
6
(HPO:0002904) Hyperbilirubinemia 32 / 7739
7
(HPO:0008282) Unconjugated hyperbilirubinemia 9 / 7739
8
(OMIM) Anemia, mild 6 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Increased excretion of urobilinogen 1 / 7739
11
(OMIM) Normal peripheral red blood cell survival time 1 / 7739
12
(OMIM) Hypercellular bone marrow with erythroid hyperplasia 1 / 7739
13
(OMIM) Increased iron deposition seen on liver biopsy 2 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary shunt hyperbilirubinemia (PSHB) is a rare form of clinical jaundice characterized by increased serum levels of unconjugated bilirubin associated with ineffective erythropoiesis and a hyperplastic bone marrow. Peripheral red blood cell survival is normal (summary by Wang ...
Clinical Description OMIM Israels et al. (1959) reported a Mennonite family from southern Canada in which 3 sibs had onset of jaundice in the second decade of life, near the time of puberty. The patients were examined at ages 23, 16, ...