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

SRXY8 MCID: 46X057 MIFTS: 34	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 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase ⁵⁷ ¹² ⁷³

Srxy8 ⁵⁷ ¹² ⁷³

Tdd ⁵⁷ ¹² ⁷³

46xy Sex Reversal 8 ⁵⁷ ¹³

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 ⁵⁸

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

46xy Sex Reversal 8, Modifier of ⁵⁷

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®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 614279

OMIM Phenotypic Series ⁵⁷ PS400044

MeSH ⁴⁴ 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 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 and amelogenesis imperfecta, type ig. 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 is Naphthalene metabolism. 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:

#	Related Disease	Score	Top Affiliating Genes
1	inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2	10.2	H2AC18 AKR1C2
2	amelogenesis imperfecta, type ig	10.1	LCOR INS H2AC18
3	actinomycosis	10.1	INS H2AC18
4	cataract 36	10.1	TUBA3D TUBA3C
5	bone inflammation disease	10.1	LCOR INS H2AC18
6	retinitis pigmentosa 18	10.1	TUBA3D TUBA3C H2AC18
7	clouston syndrome	9.9	TUBA3D TUBA3C
8	46,xy sex reversal	9.3	ZBED9 TSR3 SCARNA14 LCOR KRBA2 INS

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®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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. ⁵⁷ ⁶	Fluck CE...Biason-Lauber A	21802064	2011
2	Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. ⁶ ⁵⁷	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 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AKR1C2	Aldo-Keto Reductase Family 1 Member C2	Protein Coding	1672.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	4352099 21802064
2	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	717.67	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ Modifying germline mutation ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	4352099 21802064
3	H2AC18	H2A Clustered Histone 18	Protein Coding	9.94	DISEASES inferred ¹⁵ ¹⁵
4	INS	Insulin	Protein Coding	6.63	DISEASES inferred ¹⁵
5	DTWD1	DTW Domain Containing 1	Protein Coding	6.6	DISEASES inferred ¹⁵
6	DTWD2	DTW Domain Containing 2	Protein Coding	6.49	DISEASES inferred ¹⁵
7	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	6.48	DISEASES inferred ¹⁵ ¹⁵
8	TSR3	TSR3 Ribosome Maturation Factor	Protein Coding	6.46	DISEASES inferred ¹⁵
9	KRBA2	KRAB-A Domain Containing 2	Protein Coding	6.39	DISEASES inferred ¹⁵
10	CD300LD	CD300 Molecule Like Family Member D	Protein Coding	6.21	DISEASES inferred ¹⁵
11	SCARNA14	Small Cajal Body-Specific RNA 14	RNA Gene	5.81	DISEASES inferred ¹⁵
12	ZBED9	Zinc Finger BED-Type Containing 9	Protein Coding	5.78	DISEASES inferred ¹⁵
13	PDCD2L	Programmed Cell Death 2 Like	Protein Coding	5.66	DISEASES inferred ¹⁵
14	JRK	Jrk Helix-Turn-Helix Protein	Protein Coding	5.62	DISEASES inferred ¹⁵
15	CACHD1	Cache Domain Containing 1	Protein Coding	5.58	DISEASES inferred ¹⁵
16	TUBA3D	Tubulin Alpha 3d	Protein Coding	5.54	DISEASES inferred ¹⁵
17	TUBA3C	Tubulin Alpha 3c	Protein Coding	5.53	DISEASES inferred ¹⁵
18	ZBTB8OS	Zinc Finger And BTB Domain Containing 8 Opposite Strand	Protein Coding	5.49	DISEASES inferred ¹⁵
19	TRAPPC12	Trafficking Protein Particle Complex Subunit 12	Protein Coding	5.43	DISEASES inferred ¹⁵
20	IL20RB	Interleukin 20 Receptor Subunit Beta	Protein Coding	5.41	DISEASES inferred ¹⁵
21	TRMT12	TRNA Methyltransferase 12 Homolog	Protein Coding	5.35	DISEASES inferred ¹⁵
22	C8A	Complement C8 Alpha Chain	Protein Coding	5.17	DISEASES inferred ¹⁵
23	GCNA	Germ Cell Nuclear Acidic Peptidase	Protein Coding	5.12	DISEASES inferred ¹⁵
24	TRMT10A	TRNA Methyltransferase 10A	Protein Coding	5.1	DISEASES inferred ¹⁵
25	PLPPR4	Phospholipid Phosphatase Related 4	Protein Coding	5.1	DISEASES inferred ¹⁵
26	ADAM15	ADAM Metallopeptidase Domain 15	Protein Coding	5.05	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	rs13222
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 ²³	10	AKR1C4 AKR1C2

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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	tRNA processing	GO:0008033	9.54	ZBTB8OS DTWD2 DTWD1
2	DNA integration	GO:0015074	9.32	ZBED9 KRBA2
3	progesterone metabolic process	GO:0042448	9.26	AKR1C4 AKR1C2
4	doxorubicin metabolic process	GO:0044598	9.16	AKR1C4 AKR1C2
5	daunorubicin metabolic process	GO:0044597	8.96	AKR1C4 AKR1C2
6	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	estradiol 17-beta-dehydrogenase activity	GO:0004303	9.46	AKR1C4 AKR1C2
2	alditol:NADP+ 1-oxidoreductase activity	GO:0004032	9.43	AKR1C4 AKR1C2
3	bile acid binding	GO:0032052	9.4	AKR1C4 AKR1C2
4	androstan-3-alpha,17-beta-diol dehydrogenase activity	GO:0047044	9.37	AKR1C4 AKR1C2
5	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	GO:0016655	9.32	AKR1C4 AKR1C2
6	steroid dehydrogenase activity	GO:0016229	9.26	AKR1C4 AKR1C2
7	androsterone dehydrogenase activity	GO:0047023	9.16	AKR1C4 AKR1C2
8	ketosteroid monooxygenase activity	GO:0047086	8.96	AKR1C4 AKR1C2
9	tRNA-uridine aminocarboxypropyltransferase activity	GO:0016432	8.62	DTWD2 DTWD1

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Sources for 46,xy Sex Reversal 8

¹ BioSystems

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³ CDC

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²⁴ GeneHancer via GeneCards

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

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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