MCID: CLS028
MIFTS: 7

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

MalaCards integrated aliases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form:

Name: Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 58 29
Classic 21-Ohd Cah, Salt Wasting Form 58

Characteristics:

Orphanet epidemiological data:

58
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E25.0
Orphanet 58 ORPHA315306

Summaries for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

MalaCards based summary : Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form, is also known as classic 21-ohd cah, salt wasting form. An important gene associated with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2).

Related Diseases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Symptoms & Phenotypes for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Drugs & Therapeutics for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Search Clinical Trials , NIH Clinical Center for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form

Genetic Tests for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Genetic tests related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form:

# Genetic test Affiliating Genes
1 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 29

Anatomical Context for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Publications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Variations for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Expression for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Search GEO for disease gene expression data for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form.

Pathways for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

GO Terms for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Sources for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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