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

SRXY8 MCID: 46X057 MIFTS: 35	46,xy Sex Reversal 8 (SRXY8) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase ⁵⁶ ¹² ⁷³

Srxy8 ⁵⁶ ¹² ⁷³

Tdd ⁵⁶ ¹² ⁷³

46xy Sex Reversal 8 ⁵⁶ ¹³

Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase; Tdd ⁵⁶

46,xy Disorder of Sex Development Due to Testicular 17,20-Desmolase Deficiency ⁵⁸

Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase ⁷¹

46xy Sex Reversal 8, Modifier of ⁵⁶

46,xy Sex Reversal, Type 8 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
only 46,xy individuals are affected

HPO:

³¹

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: ³³

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Testicular dysfunction

Testicular hypofunction

Orphanet: ⁵⁸

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111773

OMIM ⁵⁶ 614279

OMIM Phenotypic Series ⁵⁶ PS400044

MeSH ⁴³ D006061

ICD10 via Orphanet ³³ E29.1

UMLS via Orphanet ⁷² C1839840

Orphanet ⁵⁸ ORPHA443087

MedGen ⁴¹ C1839840

SNOMED-CT via HPO ⁶⁸ 111332007 204878001 21321009 more

UMLS ⁷¹ C1839840

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Summaries for 46,xy Sex Reversal 8

Disease Ontology : ¹² A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1.

MalaCards based summary : 46,xy Sex Reversal 8, also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, is related to hepatocellular carcinoma and pik3ca-related overgrowth syndrome. 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 Naphthalene metabolism and Glycosaminoglycan degradation. Related phenotypes are cryptorchidism and male pseudohermaphroditism

UniProtKB/Swiss-Prot : ⁷³ 46,XY sex reversal 8: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

More information from OMIM: 614279 PS400044

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Related Diseases for 46,xy Sex Reversal 8

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4	46,xy Sex Reversal 7
46,xy Sex Reversal 11	46,xx Sex Reversal 2
46,xy Sex Reversal 2	46,xx Sex Reversal 3
46,xy Sex Reversal 1	46,xy Sex Reversal 3
46,xy Sex Reversal 5	46,xy Sex Reversal 6
46,xy Sex Reversal 8	46,xy Sex Reversal 9
46,xy Sex Reversal 10	46,xx Sex Reversal 4
46,xx Sex Reversal 5	46,xx Sex Reversal
46,xy Sex Reversal

Diseases related to 46,xy Sex Reversal 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	hepatocellular carcinoma	10.3
2	pik3ca-related overgrowth syndrome	10.3
3	disorders of sexual development	10.2	SMDT1 INS H2AC18
4	actinomycosis	10.1	TNFRSF10C INS H2AC18
5	hemochromatosis type 2	10.1	SPAG17 SMDT1 H2AC18 DDT
6	cataract 36	10.1	TUBA3D TUBA3C
7	inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2	10.0	H2AC18 AKR1C2
8	retinitis pigmentosa 18	10.0	TUBA3D TUBA3C H2AC18 ARID3A
9	corneal disease	9.9	TUBA3D TNFRSF10C H2AC18
10	hypercholesterolemia, familial, 4	9.9	TNFRSF10C SPAG17 SMDT1 H2AC18 ARID3A
11	46,xy sex reversal	7.8	TUBA3D TUBA3C TSR3 TNFRSF10C SPAG17 SMDT1

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 8:

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Symptoms & Phenotypes for 46,xy Sex Reversal 8

Human phenotypes related to 46,xy Sex Reversal 8:

³¹

#	Description	HPO Source Accession
1	cryptorchidism ³¹	HP:0000028
2	male pseudohermaphroditism ³¹	HP:0000037
3	ambiguous genitalia ³¹	HP:0000062
4	sex reversal ³¹	HP:0012245

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular tissue able to convert dehydroepiandrosterone and androstenedione to testosterone

Genitourinary Internal Genitalia Female:
rudimentary mullerian structures (rare)

Genitourinary External Genitalia Male:
ambiguous external genitalia

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

Clinical features from OMIM:

614279

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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

Articles related to 46,xy Sex Reversal 8:

#	Title	Authors	PMID	Year
1	Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. ⁶ ⁵⁶	Fluck CE...Biason-Lauber A	21802064	2011
2	Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. ⁶ ⁵⁶	Zachmann M...Prader A	4352099	1972

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Genes for 46,xy Sex Reversal 8

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

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AKR1C2	Aldo-Keto Reductase Family 1 Member C2	Protein Coding	1669.01	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	4352099 21802064
2	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	717.91	Molecular basis known ⁵⁶ Genetic Tests ²⁹ Susceptibility factor ⁵⁶ Risk factor ⁶ Modifying germline mutation ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	4352099 21802064
3	H2AC18	H2A Clustered Histone 18	Protein Coding	9.69	DISEASES inferred ¹⁵ ¹⁵
4	SMDT1	Single-Pass Membrane Protein With Aspartate Rich Tail 1	Protein Coding	8.94	DISEASES inferred ¹⁵
5	DDT	D-Dopachrome Tautomerase	Protein Coding	8.3	DISEASES inferred ¹⁵
6	PLEKHF1	Pleckstrin Homology And FYVE Domain Containing 1	Protein Coding	6.52	DISEASES inferred ¹⁵
7	DTWD1	DTW Domain Containing 1	Protein Coding	6.42	DISEASES inferred ¹⁵
8	INS	Insulin	Protein Coding	6.36	DISEASES inferred ¹⁵
9	TSR3	TSR3 Ribosome Maturation Factor	Protein Coding	6.31	DISEASES inferred ¹⁵
10	DTWD2	DTW Domain Containing 2	Protein Coding	6.3	DISEASES inferred ¹⁵
11	HPSE	Heparanase	Protein Coding	6.22	DISEASES inferred ¹⁵
12	KRBA2	KRAB-A Domain Containing 2	Protein Coding	6.19	DISEASES inferred ¹⁵
13	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	6.13	DISEASES inferred ¹⁵
14	ARID3A	AT-Rich Interaction Domain 3A	Protein Coding	6.02	DISEASES inferred ¹⁵
15	CD300LD	CD300 Molecule Like Family Member D	Protein Coding	6.01	DISEASES inferred ¹⁵
16	SPAG17	Sperm Associated Antigen 17	Protein Coding	5.89	DISEASES inferred ¹⁵
17	TUBA3D	Tubulin Alpha 3d	Protein Coding	5.85	DISEASES inferred ¹⁵
18	TUBA3C	Tubulin Alpha 3c	Protein Coding	5.83	DISEASES inferred ¹⁵
19	SERINC3	Serine Incorporator 3	Protein Coding	5.77	DISEASES inferred ¹⁵
20	TNFRSF10C	TNF Receptor Superfamily Member 10c	Protein Coding	5.56	DISEASES inferred ¹⁵
21	ZNF224	Zinc Finger Protein 224	Protein Coding	5.55	DISEASES inferred ¹⁵
22	PDCD2L	Programmed Cell Death 2 Like	Protein Coding	5.5	DISEASES inferred ¹⁵
23	C1orf210	Chromosome 1 Open Reading Frame 210	Protein Coding	5.48	DISEASES inferred ¹⁵
24	CACHD1	Cache Domain Containing 1	Protein Coding	5.4	DISEASES inferred ¹⁵
25	SCARNA14	Small Cajal Body-Specific RNA 14	RNA Gene	5.38	DISEASES inferred ¹⁵
26	ZBED9	Zinc Finger BED-Type Containing 9	Protein Coding	5.37	DISEASES inferred ¹⁵
27	DRAM1	DNA Damage Regulated Autophagy Modulator 1	Protein Coding	5.34	DISEASES inferred ¹⁵
28	HHEX	Hematopoietically Expressed Homeobox	Protein Coding	5.34	DISEASES inferred ¹⁵
29	EN1	Engrailed Homeobox 1	Protein Coding	5.33	DISEASES inferred ¹⁵
30	TUBA4A	Tubulin Alpha 4a	Protein Coding	5.32	DISEASES inferred ¹⁵

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Variations for 46,xy Sex Reversal 8

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AKR1C2	NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val)	SNV	Pathogenic	30064	rs387906750	10:5043723-5043723	10:5001531-5001531
2	AKR1C2	NM_001354.5(AKR1C2):c.270T>G (p.His90Gln)	SNV	Pathogenic	30065	rs797044460	10:5042841-5042841	10:5000649-5000649
3	AKR1C2	NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr)	SNV	Pathogenic	30066	rs387906751	10:5034053-5034053	10:4991861-4991861
4	AKR1C2	NM_001354.5(AKR1C2):c.666T>G (p.His222Gln)	SNV	Pathogenic	30067	rs13222	10:5037962-5037962	10:4995770-4995770
5	AKR1C4	NM_001818.4(AKR1C4):c.85-106G>T	SNV	risk factor	30068	rs398122815	10:5242038-5242038	10:5200075-5200075
6	AKR1C2	NM_001354.5(AKR1C2):c.441A>G (p.Thr147=)	SNV	Benign	434114	rs3207909	10:5041398-5041398	10:4999206-4999206

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

⁷³

#	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

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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	Naphthalene metabolism ²²	10.34	AKR1C4 AKR1C2
2	Glycosaminoglycan degradation ³⁶ Show member pathways Interaction With Cumulus Cells ⁶⁵	9.92	HPSE HEXA

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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	progesterone metabolic process	GO:0042448	9.32	AKR1C4 AKR1C2
2	C21-steroid hormone metabolic process	GO:0008207	9.26	AKR1C4 AKR1C2
3	doxorubicin metabolic process	GO:0044598	9.16	AKR1C4 AKR1C2
4	daunorubicin metabolic process	GO:0044597	8.96	AKR1C4 AKR1C2
5	cellular response to jasmonic acid stimulus	GO:0071395	8.62	AKR1C4 AKR1C2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	alcohol dehydrogenase (NADP+) activity	GO:0008106	9.43	AKR1C4 AKR1C2
2	alditol:NADP+ 1-oxidoreductase activity	GO:0004032	9.4	AKR1C4 AKR1C2
3	bile acid binding	GO:0032052	9.37	AKR1C4 AKR1C2
4	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	GO:0016655	9.32	AKR1C4 AKR1C2
5	steroid dehydrogenase activity	GO:0016229	9.26	AKR1C4 AKR1C2
6	androsterone dehydrogenase activity	GO:0047023	9.16	AKR1C4 AKR1C2
7	ketosteroid monooxygenase activity	GO:0047086	8.96	AKR1C4 AKR1C2
8	tRNA-uridine aminocarboxypropyltransferase activity	GO:0016432	8.62	DTWD2 DTWD1

Sources

Sources for 46,xy Sex Reversal 8

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⁵⁴ Novoseek

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

46,xy Sex Reversal 8 (SRXY8)

Aliases & Classifications for 46,xy Sex Reversal 8

MalaCards integrated aliases for 46,xy Sex Reversal 8:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for 46,xy Sex Reversal 8

Related Diseases for 46,xy Sex Reversal 8

Diseases in the 46,xx Sex Reversal 1 family:

Diseases related to 46,xy Sex Reversal 8 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 8:

Symptoms & Phenotypes for 46,xy Sex Reversal 8

Human phenotypes related to 46,xy Sex Reversal 8:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for 46,xy Sex Reversal 8

Genetic Tests for 46,xy Sex Reversal 8

Genetic tests related to 46,xy Sex Reversal 8:

Anatomical Context for 46,xy Sex Reversal 8

Publications for 46,xy Sex Reversal 8

Articles related to 46,xy Sex Reversal 8:

Genes for 46,xy Sex Reversal 8

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

Variations for 46,xy Sex Reversal 8

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

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

Expression for 46,xy Sex Reversal 8

Pathways for 46,xy Sex Reversal 8

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

GO Terms for 46,xy Sex Reversal 8

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

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

Sources for 46,xy Sex Reversal 8