MCID: CLS028
MIFTS: 6

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 59
Classic 21-Ohd Cah, Salt Wasting Form 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Orphanet 59 ORPHA315306
ICD10 via Orphanet 34 E25.0

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).

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

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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