PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 260570
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:0002027) Abdominal pain 184 / 7739
2
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
3
(HPO:0001954) Episodic fever 27 / 7739
4
(OMIM) Pelger-Huet-like polymorphs 1 / 7739
5
(OMIM) Unsegmented eosinophils 1 / 7739
6
(OMIM) Unsegmented neutrophils 1 / 7739
7
(OMIM) Recurrent attacks of abdominal pain 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: