17-Alpha-Hydroxylase/17,20-Lyase Deficiency malady
Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:
Orphanet epidemiological data:51
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Reproductive diseases, Endocrine diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Genetics Home Reference:23 17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.
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 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, and has symptoms including adrenal hyperplasia, hypokalemic alkalosis and adrenogenital syndrome. An important gene associated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency is CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1), and among its related pathways are Phase II conjugation and cytochrome P450. Affiliated tissues include testes, adrenal gland and kidney, and related mouse phenotype limbs/digits/tail.
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).
Description from OMIM:49 202110
HPO human phenotypes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:(show all 8)
MalaCards organs/tissues related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:33
Testes, Adrenal gland, Kidney, Ovary, Breast
Articles related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:
UniProtKB/Swiss-Prot genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:67 (show all 26)
Clinvar genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:5
Search GEO for disease gene expression data for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency.
Pathways related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet