MCID: 17L004
MIFTS: 19

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

Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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Summaries for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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MalaCards based summary: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency, also known as congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, is related to 17-alpha-hydroxylase deficiency and congenital adrenal hyperplasia, and has symptoms including An important gene associated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency is CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1).

Description from OMIM:46 202110

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Aliases & Descriptions:

Name: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 46
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 48
 
Cah Due to 17-Alpha-Hydroxylase Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 202110
ICD10 via Orphanet26 E25.0

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
117-alpha-hydroxylase deficiency10.7
2congenital adrenal hyperplasia10.6

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 8)
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

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

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Drug clinical trials:

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

Search 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:

64 (show all 21)
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

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

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Expression patterns in normal tissues for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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

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

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet