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congenital adrenal hyperplasia

Summary

Synonym

adrenal hyperplasia 1
congenital lipoid adrenal hyperplasia
lipoid CAH

Definition

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

Super Class

physical disorder steroid inherited metabolic disorder

External Links

Disease Ontology

DOID:0050811

Mondo Disease Ontology

UMLS

C0701163

ORDO

418

OMIM

GARD

1465
1467

MGI genotype (from TogoID)

WikiPathways (from TogoID)

WP4523

Related Genes

Displaying entries **21 - 26** of 26 in total

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Gene ID	Gene Symbol	Description	Source
4191	MDH2	malate dehydrogenase 2	DisGeNET
6390	SDHB	succinate dehydrogenase complex iron sulfur subunit B	DisGeNET
8630	HSD17B6	hydroxysteroid 17-beta dehydrogenase 6	DisGeNET
9469	CHST3	carbohydrate sulfotransferase 3	DisGeNET DisGeNET
55997	CFC1	cryptic, EGF-CFC family member 1	DisGeNET
146183	OTOA	otoancorin	DisGeNET DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 14 in total

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UniProt ID	Protein Name	Source
O14756	17-beta-hydroxysteroid dehydrogenase type 6	DisGeNET
P05093	Steroid 17-alpha-hydroxylase/17,20 lyase	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
P07954	Fumarate hydratase, mitochondrial	DisGeNET
P0CG37	Cryptic protein	DisGeNET
P14060	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1	DisGeNET DisGeNET
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	DisGeNET
P22304	Iduronate 2-sulfatase	DisGeNET
P26439	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2	DisGeNET DisGeNET DisGeNET DisGeNET
P40926	Malate dehydrogenase, mitochondrial	DisGeNET
P40939	Trifunctional enzyme subunit alpha, mitochondrial	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **91 - 100** of **100** in total

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HPO ID	HPO Term
HP:0008221	Adrenal hyperplasia
HP:0000765	Abnormal thorax morphology
HP:0001943	Hypoglycemia
HP:0001945	Fever
HP:0001954	Recurrent fever
HP:0000051	Perineal hypospadias
HP:0000846	Adrenal insufficiency
HP:0003577	Congenital onset
HP:0008707	Absent scrotum
HP:0012853	Scrotal hypospadias

Displaying **all 4** entries
Gene ID	Gene Symbol	Description
1586	CYP17A1	cytochrome P450 family 17 subfamily A member 1
3284	HSD3B2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
1584	CYP11B1	cytochrome P450 family 11 subfamily B member 1
1589	CYP21A2	cytochrome P450 family 21 subfamily A member 2