Entry Search - 201910 613815

Search: '201910 613815 (Search in: MIM number)'

Results: 2 entries.

* 613815. CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
CYTOCHROME P450, SUBFAMILY XXIA, POLYPEPTIDE 1 PSEUDOGENE, INCLUDED; CYP21A1P, INCLUDED
Cytogenetic location: 6p21.33, Genomic coordinates (GRCh38): 6:32,038,415-32,041,644
Matching terms: 613815
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p21.33	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910	AR	3
6p21.33	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	201910	AR	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 Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 201910. ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, INCLUDED
Cytogenetic locations: 6p21.33,
Matching terms: 201910
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
6p21.33	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910	AR	3	CYP21A2	613815
6p21.33	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	201910	AR	3	CYP21A2	613815

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Links
Testing GTR EuroGentest Classic congenital adrenal… Classic congenital adrenal… Congenital adrenal hyperpl… Classic congenital adrenal…	Protein HPRD	Clinical Resources Clinical Trials EuroGentest Classic congenital adrenal… Classic congenital adrenal… Congenital adrenal hyperpl… Classic congenital adrenal… Gene Reviews Genetic Alliance MedlinePlus Genetics 21-hydroxylase deficiency CYP21A2 gene GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm OrphaNet Classic congenital adrenal… Classic congenital adrenal… Congenital adrenal hyperpl… Classic congenital adrenal…	Variation Locus Specific DBs	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 315306, 315311, 418, 90794 DO: 0050811

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Search: 201910 613815 (Search in: MIM number)

Results: 2 entries.

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