Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Name: Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive ⁵⁸ ⁷⁶ ⁶

Hies3 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Immune diseases Blood diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618282

MeSH ⁴⁵ D007589

MedGen ⁴³ CN258118

SNOMED-CT via HPO ⁷⁰ 200775004 234568006 24079001 more

Sources

Summaries for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁶ Hyper-IgE recurrent infection syndrome 3, autosomal recessive: An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive, is also known as hies3. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive is ZNF341 (Zinc Finger Protein 341). Affiliated tissues include skin, b cells and nk cells, and related phenotypes are joint hypermobility and eosinophilia

OMIM : ⁵⁸ Hyper-IgE recurrent infection syndrome-3 is an autosomal recessive immunologic disorder characterized by childhood onset of atopic dermatitis, skin infections particularly with Staphylococcus aureus, recurrent sinopulmonary infections, and increased serum IgE and IgG. Patients are susceptible to bacterial and fungal infections, including chronic mucocutaneous candidiasis. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells (summary by Beziat et al., 2018). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 (147060). (618282)

Sources

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family:

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive

Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

³³ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	joint hypermobility ³³	very rare (1%)	HP:0001382
2	eosinophilia ³³	very rare (1%)	HP:0001880
3	high palate ³³		HP:0000218
4	abnormality of the dentition ³³		HP:0000164
5	micrognathia ³³		HP:0000347
6	pruritus ³³		HP:0000989
7	chronic mucocutaneous candidiasis ³³		HP:0002728
8	atopic dermatitis ³³		HP:0001047

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Face:
micrognathia
coarse or dysmorphic facial features, mild (in some patients)

Skin Nails Hair Skin:
eczema
atopic dermatitis
pruritis
staphylococcus aureus infections
skin infections
more

Respiratory Lung:
bronchiectasis

Head And Neck Teeth:
abnormal dentition
impaired dental growth

Head And Neck Ears:
otitis media, recurrent

Skeletal:
joint hypermobility (in some patients)
bone fractures (in some patients)

Skin Nails Hair Nails:
candidal infections

Immunology:
recurrent infections
chronic mucocutaneous candidiasis
decreased nk cells
increased igg
increased ige
more

Head And Neck Nose:
wide nose

Head And Neck Mouth:
high-arched palate
oral thrush

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
alopecia (in some patients)

Neurologic Central Nervous System:
impaired intellectual development (in some patients)

Clinical features from OMIM:

618282

Sources

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

⁴²

Skin, B Cells, Nk Cells, T Cells, Bone

Sources

Publications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

#	Title	Authors	Year
1	A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )	B?ziat V...Casanova JL	2018
2	ZNF341 controls STAT3 expression and thereby immunocompetence. ( 29907690 )	Frey-Jakobs S...Grimbacher B	2018

Sources

Genes for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Genes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZNF341	Zinc Finger Protein 341	Protein Coding	900	Molecular basis known ⁵⁸ Pathogenic ⁶	29907690 29907691

Sources

Variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

⁶

#	Gene	Variation	Type	Significance	Assembly	Location
1	ZNF341	NM_001282933.2(ZNF341): c.904C> T (p.Arg302Ter)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 20, 32345116: 32345116
2	ZNF341	NM_001282933.2(ZNF341): c.904C> T (p.Arg302Ter)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 20, 33757310: 33757310
3	ZNF341	NM_001282933.2(ZNF341): c.1156C> T (p.Arg386Ter)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 20, 32349795: 32349795
4	ZNF341	NM_001282933.2(ZNF341): c.1156C> T (p.Arg386Ter)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 20, 33761989: 33761989
5	ZNF341	NM_001282933.2(ZNF341): c.1083del (p.Lys362Serfs)	deletion	Pathogenic	GRCh38	Chromosome 20, 33761916: 33761916
6	ZNF341	NM_001282933.2(ZNF341): c.1083del (p.Lys362Serfs)	deletion	Pathogenic	GRCh37	Chromosome 20, 32349722: 32349722
7	ZNF341	NM_001282933.2(ZNF341): c.1647C> G (p.Tyr549Ter)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 20, 32369121: 32369121
8	ZNF341	NM_001282933.2(ZNF341): c.1647C> G (p.Tyr549Ter)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 20, 33781315: 33781315
9	ZNF341	NM_001282933.2(ZNF341): c.583C> T (p.Gln195Ter)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 20, 33753265: 33753265
10	ZNF341	NM_001282933.2(ZNF341): c.583C> T (p.Gln195Ter)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 20, 32341071: 32341071

Sources

Expression for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive.

Sources

Pathways for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources

GO Terms for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources

Sources for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (HIES3)

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family:

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Publications for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Articles related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Genes for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Genes related to Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive (1 elite genes):

Variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive:

Expression for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Pathways for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

GO Terms for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive

Sources for Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive