Entry Search - 102582 147060

Search: '102582 147060 (Search in: MIM number)'

Results: 2 entries.

* 102582. SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,313,324-42,388,442
Matching terms: 102582
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	Autoimmune disease, multisystem, infantile-onset, 1	615952	AD	3
17q21.2	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	147060	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene WBGene00010251 WBGene00013111 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1197362009, 50926003 ICD10CM: D82.4

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# 147060. HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES1
Cytogenetic location: 17q21.2
Matching terms: 147060
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q21.2	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	147060	AD	3	STAT3	102582

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Hyper-IgE recurrent infection syndrome - PS147060 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections	AR	3	618944	IL6R	147880
5q11.2	Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections	AD	3	619752	IL6ST	600694
5q11.2	Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections	AR	3	618523	IL6ST	600694
9p24.3	Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections	AR	3	243700	DOCK8	611432
17q21.2	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	AD	3	147060	STAT3	102582
20q11.22	Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections	AR	3	618282	ZNF341	618269

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 50926003 ICD10CM: D82.4 ORPHA: 2314 DO: 3261

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Search: 102582 147060 (Search in: MIM number)

Results: 2 entries.

* 102582. SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,313,324-42,388,442
Matching terms: 102582

# 147060. HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES1
Cytogenetic location: 17q21.2
Matching terms: 147060

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Printed: May 15, 2024