ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 206400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000952) Jaundice 105 / 7739
2
(HPO:0001744) Splenomegaly 337 / 7739
3
(HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
4
(HPO:0003163) Elevated urinary delta-aminolevulinic acid 4 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Elevated urinary porphobilinogen 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: