IMMUNOERYTHROMYELOID HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 242880
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:0004313) Decreased antibody level in blood 47 / 7739
2
(HPO:0005523) Lymphoproliferative disorder 4 / 7739
3
(HPO:0004315) IgG deficiency 38 / 7739
4
(HPO:0012133) Erythroid hypoplasia 5 / 7739
5
(HPO:0008161) Absent leukocyte alkaline phosphatase 1 / 7739
6
(OMIM) Plasma cell aplasia 1 / 7739
7
(OMIM) Myeloid aplasia 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Leukocyte intranuclear and intracytoplasmic linear 'crystalloid' structures by electron microscopy 1 / 7739
10
(OMIM) Erythroid aplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: