Autosomal recessive hyper-IgE syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AR-HIES
Autosomal recessive HIES
Hyperimmunoglobulin E syndrome type 2
Non-skeletal hyper-IgE syndrome
Number of Symptoms 14
OrphanetNr: 169446
OMIM Id: 243700
611521
ICD-10: D82.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hyper-IgE syndrome
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002301) Hemiplegia 42 / 7739
2
 (HPO:0000964) Eczema 81 / 7739
3
 (HPO:0001047) Atopic dermatitis 20 / 7739
4
 (HPO:0005318) Cerebral vasculitis 2 / 7739
5
 (HPO:0002138) Subarachnoid hemorrhage 9 / 7739
6
 (HPO:0001880) Eosinophilia 35 / 7739
7
 (HPO:0002099) Asthma 62 / 7739
8
 (HPO:0005425) Recurrent sinopulmonary infections 10 / 7739
9
 (HPO:0002664) Neoplasm 111 / 7739
10
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
11
 (HPO:0004429) Recurrent viral infections 20 / 7739
12
 (HPO:0002841) Recurrent fungal infections 16 / 7739
13
 (HPO:0003593) Infantile onset 249 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: