MCID: OBS092
MIFTS: 10

Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

MalaCards integrated aliases for Obsolete: Autosomal Recessive Hyper-Ige Syndrome:

Name: Obsolete: Autosomal Recessive Hyper-Ige Syndrome 58
Hyperimmunoglobulin E Syndrome Type 2 58
Non-Skeletal Hyper-Ige Syndrome 58
Autosomal Recessive Hies 58
Ar-Hies 58

Classifications:



External Ids:

Orphanet 58 ORPHA169446

Summaries for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

MalaCards based summary : Obsolete: Autosomal Recessive Hyper-Ige Syndrome, also known as hyperimmunoglobulin e syndrome type 2, is related to hyper-ige recurrent infection syndrome 2, autosomal recessive and dock8 immunodeficiency syndrome.

Related Diseases for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Diseases related to Obsolete: Autosomal Recessive Hyper-Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.0
2 dock8 immunodeficiency syndrome 11.5
3 immunodeficiency 35 11.5
4 hyper ige syndrome 11.0

Symptoms & Phenotypes for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Drugs & Therapeutics for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Search Clinical Trials , NIH Clinical Center for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Genetic Tests for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Anatomical Context for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Publications for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Articles related to Obsolete: Autosomal Recessive Hyper-Ige Syndrome:

(show all 12)
# Title Authors PMID Year
1
Phenotyping and long-term follow up of patients with hyper IgE syndrome. 61
30279075 2019
2
Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports. 61
30732127 2019
3
Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients. 61
30252138 2019
4
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. 61
28902078 2018
5
[Hyper-IgE syndromes]. 61
29775011 2017
6
An update on the hyper-IgE syndromes. 61
23210525 2012
7
Hyperimmunoglobulin E syndromes in pediatrics. 61
21970826 2011
8
Hyper IgE Disorder Associated with Multiple Fused Primary Teeth: A Rare Clinical Occurrence. 61
27616847 2010
9
Hyper-IgE syndrome. 61
19717292 2009
10
Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. 61
19190525 2009
11
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 61
19648655 2009
12
Severe periodontitis in a 5-year-old girl with hyperimmunoglobulin E syndrome. 61
15839398 2005

Variations for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Expression for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Search GEO for disease gene expression data for Obsolete: Autosomal Recessive Hyper-Ige Syndrome.

Pathways for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

GO Terms for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

Sources for Obsolete: Autosomal Recessive Hyper-Ige Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....