MCID: HYP373
MIFTS: 32

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive malady

Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Immune diseases, Skin diseases categories

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 46 9
Autosomal Recessive Hyper-Ige Syndrome 42 20 48
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 42 22
Hyperimmunoglobulin E Syndrome Type 2 42 48
Non-Skeletal Hyper-Ige Syndrome 42 48
Autosomal Recessive Hies 42 48
Ar-Hies 42 48
 
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 61
Hyper Ig E Syndrome, Autosomal Recessive 42
Autosomal Recessive Hyper Ige Syndrome 42
Ar Hyperimmunoglobulin E Syndrome 42
Hies Autosomal Recessive 42
Dock8 Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal recessive hyper-ige syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM46 243700
Orphanet48 169446
ICD10 via Orphanet26 D82.4
UMLS via Orphanet62 C1968689

Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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NIH Rare Diseases:42 Autosomal recessive hyper ige syndrome (ar-hies) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin e (ige), recurrent staphylococcal skin abscesses, and recurrent pneumonia. the same features are also seen in the more frequent autosomal dominant hies syndrome. ar-hies accounts for only a small minority of hies cases, with about 130 affected families reported so far.in contrast to ad-hies, the ar variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as herpes simplex and molluscum contagiosum; involvement of the central nervous system; t-cell defects; and a high death rate. the dental, skeletal, connective tissue, and facial features present in ad-hies are absent in ar-hies. ar-hies is inherited in an autosomal recessive fashion and is caused by mutations in the dock8 gene. last updated: 1/14/2014

MalaCards based summary: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive, also known as autosomal recessive hyper-ige syndrome, is related to hyper ige syndrome and autosomal recessive hyper-ige syndrome due to tyk2 deficiency, and has symptoms including autosomal recessive inheritance, eczema and atopic dermatitis. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive is DOCK8 (dedicator of cytokinesis 8). Affiliated tissues include skin and t cells, and related mouse phenotypes are immune system and hematopoietic system.

OMIM:46 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...

Related Diseases for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Diseases in the Hyper-Ige Recurrent Infection Syndrome family:

hyper-ige recurrent infection syndrome, autosomal recessive

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hyper ige syndrome10.7
2autosomal recessive hyper-ige syndrome due to tyk2 deficiency10.6
3combined immunodeficiency due to dock8 deficiency10.4
4hematopoietic stem cell transplantation10.3
5molluscum contagiosum10.3
6factor viii deficiency10.3
7aggressive periodontitis10.1
8progressive multifocal leukoencephalopathy10.1
9eosinophilic pneumonia10.1
10periodontitis10.1
11pneumonia10.1

Graphical network of diseases related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:



Diseases related to hyper-ige recurrent infection syndrome, autosomal recessive

Symptoms for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

243700

Clinical features from OMIM:

243700

HPO human phenotypes related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 eczema HP:0000964
3 atopic dermatitis HP:0001047
4 eosinophilia HP:0001880
5 asthma HP:0002099
6 subarachnoid hemorrhage HP:0002138
7 hemiplegia HP:0002301
8 neoplasm HP:0002664
9 recurrent bacterial infections HP:0002718
10 recurrent fungal infections HP:0002841
11 infantile onset HP:0003593
12 recurrent viral infections HP:0004429
13 cerebral vasculitis HP:0005318
14 recurrent sinopulmonary infections HP:0005425

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Genetic tests related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Autosomal Recessive Hyper Ige Syndrome20 DOCK8
2 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive22

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

31
Skin, T cells

Animal Models for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.1DOCK8, TYK2
2MP:00053978.8DOCK8, TYK2

Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

63
id Symbol AA change Variation ID SNP ID
1DOCK8p.Lys473ArgVAR_063753

Clinvar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TYK2TYK2, 4-BP DEL, 550GCTTdeletionPathogenic
2DOCK8DOCK8, 1-BP DEL, 3290CdeletionPathogenic
3DOCK8DOCK8, 8-BP INS, NT3303insertionPathogenic
4DOCK8NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg)single nucleotide variantPathogenicrs112321280GRCh37Chr 9, 336714: 336714
5DOCK8NG_017007.1: g.123966_184170deldeletionPathogenicGRCh37Chr 9, 333830: 394034
6DOCK8NC_000009.12: g.311734_398139del86406deletionPathogenicGRCh37Chr 9, 311734: 398139

Expression for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive.

Pathways for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Compounds for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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GO Terms for genes affiliated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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Cellular components related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058299.1DOCK8, TYK2

Sources for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet