MCID: 17L004
MIFTS: 20

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

Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

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

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48OMIM, 34MalaCards
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MalaCards: 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. 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:48 202110

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

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48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

17-alpha-hydroxylase/17,20-lyase deficiency 48
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 50
cah due to 17-alpha-hydroxylase deficiency 50


External Ids:

SNOMED-CT via Orphanet60 124220008
OMIM48 202110
ICD10 via Orphanet27 E25.0

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

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

202110

Clinical features from OMIM:

202110

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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53PubMed
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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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65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

65 (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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2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet