46,xy Sex Reversal 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for 46,xy Sex Reversal 8

MalaCards integrated aliases for 46,xy Sex Reversal 8:

Name: 46,xy Sex Reversal 8 ⁵⁷ ⁷⁵ ²⁹ ⁶

Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase ⁵⁷ ⁷⁵

46xy Sex Reversal 8 ⁵⁷ ¹³

Srxy8 ⁵⁷ ⁷⁵

Tdd ⁵⁷ ⁷⁵

Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase; Tdd ⁵⁷

46,xy Disorder of Sex Development Due to Testicular 17,20-Desmolase Deficiency ⁵⁹

Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase ⁷³

46xy Sex Reversal 8, Modifier of ⁵⁷

46,xy Sex Reversal, Type 8 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

46,xy disorder of sex development due to testicular 17,20-desmolase deficiency
Inheritance: Autosomal recessive;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
only 46,xy individuals are affected

HPO:

³²

46,xy sex reversal 8:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Testicular dysfunction

Testicular hypofunction

Orphanet: ⁵⁹

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 614279

Orphanet ⁵⁹ ORPHA443087

UMLS via Orphanet ⁷⁴ C1839840

ICD10 via Orphanet ³⁴ E29.1

MedGen ⁴² C1839840

MeSH ⁴⁴ D006061

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 111332007 more

UMLS ⁷³ C1839840

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Summaries for 46,xy Sex Reversal 8

UniProtKB/Swiss-Prot : ⁷⁵ 46,XY sex reversal 8: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

MalaCards based summary : 46,xy Sex Reversal 8, is also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase. An important gene associated with 46,xy Sex Reversal 8 is AKR1C2 (Aldo-Keto Reductase Family 1 Member C2), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Synthesis of bile acids and bile salts. Related phenotypes are cryptorchidism and male pseudohermaphroditism

Description from OMIM: 614279

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Related Diseases for 46,xy Sex Reversal 8

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Symptoms & Phenotypes for 46,xy Sex Reversal 8

Symptoms via clinical synopsis from OMIM:

⁵⁷

Genitourinary External Genitalia Male:
ambiguous external genitalia

Genitourinary Internal Genitalia Female:
rudimentary mullerian structures (rare)

GenitourinaryInternal GenitaliaMale:
testicular tissue able to convert dehydroepiandrosterone and androstenedione to testosterone
cryptorchidism

Endocrine Features:
undervirilization
elevated urinary gonadotropins
low urinary estrogens
urinary 17-oxosteroids normal
urinary 17-hydroxycorticoids normal
more

Clinical features from OMIM:

614279

Human phenotypes related to 46,xy Sex Reversal 8:

³²

#	Description	HPO Source Accession
1	cryptorchidism ³²	HP:0000028
2	male pseudohermaphroditism ³²	HP:0000037
3	ambiguous genitalia ³²	HP:0000062
4	sex reversal ³²	HP:0012245

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Drugs & Therapeutics for 46,xy Sex Reversal 8

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 8

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Genetic Tests for 46,xy Sex Reversal 8

Genetic tests related to 46,xy Sex Reversal 8:

#	Genetic test	Affiliating Genes
1	46,xy Sex Reversal 8 ²⁹	AKR1C2 AKR1C4

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Anatomical Context for 46,xy Sex Reversal 8

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Publications for 46,xy Sex Reversal 8

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Genes for 46,xy Sex Reversal 8

Genes related to 46,xy Sex Reversal 8 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AKR1C2	Aldo-Keto Reductase Family 1 Member C2	Protein Coding	1679.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21802064 4352099
2	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	728.49	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ Modifying germline mutation ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	4352099 21802064

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Variations for 46,xy Sex Reversal 8

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 8:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	AKR1C2	p.Ile79Val	VAR_066632	rs387906750
2	AKR1C2	p.His90Gln	VAR_066633	rs797044460
3	AKR1C2	p.His222Gln	VAR_066634
4	AKR1C2	p.Asn300Thr	VAR_066635	rs387906751

ClinVar genetic disease variations for 46,xy Sex Reversal 8:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AKR1C2	NM_001354.5(AKR1C2): c.235A> G (p.Ile79Val)	single nucleotide variant	Pathogenic	rs387906750	GRCh37	Chromosome 10, 5043723: 5043723
2	AKR1C2	NM_001354.5(AKR1C2): c.235A> G (p.Ile79Val)	single nucleotide variant	Pathogenic	rs387906750	GRCh38	Chromosome 10, 5001531: 5001531
3	AKR1C2	NM_001354.5(AKR1C2): c.270T> G (p.His90Gln)	single nucleotide variant	Pathogenic	rs797044460	GRCh37	Chromosome 10, 5042841: 5042841
4	AKR1C2	NM_001354.5(AKR1C2): c.270T> G (p.His90Gln)	single nucleotide variant	Pathogenic	rs797044460	GRCh38	Chromosome 10, 5000649: 5000649
5	AKR1C2	NM_001354.5(AKR1C2): c.899A> C (p.Asn300Thr)	single nucleotide variant	Pathogenic	rs387906751	GRCh37	Chromosome 10, 5034053: 5034053
6	AKR1C2	NM_001354.5(AKR1C2): c.899A> C (p.Asn300Thr)	single nucleotide variant	Pathogenic	rs387906751	GRCh38	Chromosome 10, 4991861: 4991861
7	AKR1C2	AKR1C2, HIS222GLN	single nucleotide variant	Pathogenic
8	AKR1C4	NM_001818.3(AKR1C4): c.85-106G> T	single nucleotide variant	risk factor	rs398122815	GRCh37	Chromosome 10, 5242038: 5242038
9	AKR1C4	NM_001818.3(AKR1C4): c.85-106G> T	single nucleotide variant	risk factor	rs398122815	GRCh38	Chromosome 10, 5200075: 5200075

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Expression for 46,xy Sex Reversal 8

Search GEO for disease gene expression data for 46,xy Sex Reversal 8.

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Pathways for 46,xy Sex Reversal 8

Pathways related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cytochrome P450 - arranged by substrate type ⁶⁶ Show member pathways Amine Oxidase reactions ⁶⁶ Aryl hydrocarbon receptor signalling ⁶⁶ Benzo(a)pyrene metabolism ¹ Biological oxidations ⁶⁶ bupropion degradation ¹ Clobazam Pathway, Pharmacokinetics ⁶¹ CYP2E1 reactions ⁶⁶ Cytosolic sulfonation of small molecules ⁶⁶ Diclofenac Metabolic Pathway ¹ Eicosanoids ⁶⁶ Endogenous sterols ⁶⁶ Estradiol metabolism ²² Ethanol oxidation ⁶⁶ Fatty Acid Omega Oxidation ¹ Fatty acids ⁶⁶ Metapathway biotransformation ¹ Methylation ⁶⁶ Miscellaneous substrates ⁶⁶ Oxidation by Cytochrome P450 ¹ Phase 1 - Functionalization of compounds ⁶⁶ Phase II conjugation ⁶⁶ Sterols are 12-hydroxylated by CYP8B1 ⁶⁶ Transport and synthesis of PAPS ⁶⁶ Vitamin D2 (ergocalciferol) metabolism ²² vitamin D3 biosynthesis ¹ Vitamins ⁶⁶ Xenobiotics ⁶⁶	12.26	AKR1C2 AKR1C4
2	Synthesis of bile acids and bile salts ⁶⁶ Show member pathways Bile acid and bile salt metabolism ⁶⁶ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁷ Recycling of bile acids and salts ⁶⁶ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁶	11.4	AKR1C2 AKR1C4
3	Steroid hormone biosynthesis ³⁷ Show member pathways allopregnanolone biosynthesis ¹	10.77	AKR1C2 AKR1C4
4	Naphthalene metabolism ²²	10	AKR1C2 AKR1C4

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GO Terms for 46,xy Sex Reversal 8

Biological processes related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.43	AKR1C2 AKR1C4
2	steroid metabolic process	GO:0008202	9.4	AKR1C2 AKR1C4
3	prostaglandin metabolic process	GO:0006693	9.37	AKR1C2 AKR1C4
4	progesterone metabolic process	GO:0042448	9.32	AKR1C2 AKR1C4
5	daunorubicin metabolic process	GO:0044597	9.26	AKR1C2 AKR1C4
6	doxorubicin metabolic process	GO:0044598	9.16	AKR1C2 AKR1C4
7	C21-steroid hormone metabolic process	GO:0008207	8.96	AKR1C2 AKR1C4
8	cellular response to jasmonic acid stimulus	GO:0071395	8.62	AKR1C2 AKR1C4

Molecular functions related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.46	AKR1C2 AKR1C4
2	steroid binding	GO:0005496	9.43	AKR1C2 AKR1C4
3	alditol:NADP+ 1-oxidoreductase activity	GO:0004032	9.4	AKR1C2 AKR1C4
4	alcohol dehydrogenase (NADP+) activity	GO:0008106	9.37	AKR1C2 AKR1C4
5	bile acid binding	GO:0032052	9.32	AKR1C2 AKR1C4
6	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	GO:0016655	9.26	AKR1C2 AKR1C4
7	steroid dehydrogenase activity	GO:0016229	9.16	AKR1C2 AKR1C4
8	ketosteroid monooxygenase activity	GO:0047086	8.96	AKR1C2 AKR1C4
9	androsterone dehydrogenase activity	GO:0047023	8.62	AKR1C2 AKR1C4

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Sources for 46,xy Sex Reversal 8

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