MCID: 17L004
MIFTS: 30

17-Alpha-Hydroxylase/17,20-Lyase Deficiency malady

Genetic diseases (common), Endocrine diseases categories

Aliases & Classifications for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Aliases & Descriptions for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

Name: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 49
17,20-Lyase Deficiency, Isolated 49 11
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 67
Adrenal Hyperplasia Type V 67
 
Adrenal Hyperplasia 5 67
Ah-V 67
Ah5 67


Classifications:



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OMIM49 202110
MeSH36 D000312

Summaries for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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UniProtKB/Swiss-Prot:67 Adrenal hyperplasia 5: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic).

MalaCards based summary: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency, also known as 17,20-lyase deficiency, isolated, is related to 17-alpha-hydroxylase deficiency and congenital adrenal hyperplasia, and has symptoms including autosomal recessive inheritance, male pseudohermaphroditism and ambiguous genitalia. An important gene associated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency is CYP17A1 (Cytochrome P450, Family 17, Subfamily A, Polypeptide 1), and among its related pathways is Cytochrome P450 - arranged by substrate type.

Description from OMIM:49 202110

Related Diseases for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Diseases related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
117-alpha-hydroxylase deficiency10.8
2congenital adrenal hyperplasia10.6
317-alpha-hydroxylase/17,20-lyase deficiency9.8CYP17A1, POR
4stuttering9.8CYP17A1, POR
5dcx-related disorders9.8CYP17A1, POR
6yellow nail syndrome9.7CYP17A1, POR

Graphical network of diseases related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:



Diseases related to 17-alpha-hydroxylase/17,20-lyase deficiency

Symptoms for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Symptoms by clinical synopsis from OMIM:

202110

Clinical features from OMIM:

202110

HPO human phenotypes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 male pseudohermaphroditism HP:0000037
3 ambiguous genitalia HP:0000062
4 gynecomastia HP:0000771
5 primary amenorrhea HP:0000786
6 hypertension HP:0000822
7 adrenogenital syndrome HP:0000840
8 hypokalemic alkalosis HP:0001949
9 adrenal hyperplasia HP:0008221

Drugs & Therapeutics for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Genetic Tests for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Anatomical Context for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Animal Models for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency or affiliated genes

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Publications for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Articles related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

idTitleAuthorsYear
1
Gene symbol: CYp17, M19489. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency. (14552333)
2003
2
Gene symbol: M19489, CYP17. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency. (14552332)
2003

Variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

67 (show all 26)
id Symbol AA change Variation ID SNP ID
1CYP17A1p.Tyr64SerVAR_001271
2CYP17A1p.Ser106ProVAR_001272
3CYP17A1p.Pro342ThrVAR_001274
4CYP17A1p.Arg347HisVAR_001275
5CYP17A1p.Arg358GlnVAR_001276
6CYP17A1p.His373LeuVAR_001277
7CYP17A1p.Arg440HisVAR_001278
8CYP17A1p.Arg496CysVAR_001280
9CYP17A1p.Phe93CysVAR_013147
10CYP17A1p.Pro35LeuVAR_022745
11CYP17A1p.Arg96TrpVAR_022746
12CYP17A1p.Phe114ValVAR_022747
13CYP17A1p.Asp116ValVAR_022748
14CYP17A1p.Asn177AspVAR_022749
15CYP17A1p.Tyr329AspVAR_022750rs104894144
16CYP17A1p.Arg347CysVAR_022752
17CYP17A1p.Arg362CysVAR_022753
18CYP17A1p.Trp406ArgVAR_022754
19CYP17A1p.Phe417CysVAR_022755
20CYP17A1p.Pro428LeuVAR_022756
21CYP17A1p.Arg496HisVAR_022757
22CYP17A1p.Arg96GlnVAR_073043
23CYP17A1p.Trp121ArgVAR_073044
24CYP17A1p.Ala174GluVAR_073045
25CYP17A1p.His373AsnVAR_073046
26CYP17A1p.Trp406LeuVAR_073047

Clinvar genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYP17A1NM_000102.3(CYP17A1): c.1040G> A (p.Arg347His)single nucleotide variantPathogenicrs61754278GRCh37Chr 10, 104592367: 104592367

Expression for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Search GEO for disease gene expression data for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency.

Pathways for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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GO Terms for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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Cellular components related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.1CYP17A1, POR

Biological processes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:00551149.1CYP17A1, POR

Molecular functions related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.1CYP17A1, POR

Sources for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet