46,xy Sex Reversal 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for 46,xy Sex Reversal 9

MalaCards integrated aliases for 46,xy Sex Reversal 9:

Name: 46,xy Sex Reversal 9 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

46,xy Sex Reversal, Zfpm2-Related ⁵⁷ ¹¹ ⁷³

Srxy9 ⁵⁷ ¹¹ ⁷³

46xy Sex Reversal 9 ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
only 46,xy individuals are affected
based on report of 2 probands (last curated october 2014)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111770

OMIM® ⁵⁷ 616067

OMIM Phenotypic Series ⁵⁷ PS400044

MeSH ⁴³ D006061

MedGen ⁴⁰ C4015129 CN220529

SNOMED-CT via HPO ⁶⁹ 205681004 21321009 38804009 more

UMLS ⁷¹ C4015129

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Summaries for 46,xy Sex Reversal 9

Disease Ontology: ¹¹ 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 heterozygous mutation in ZFPM2 on chromosome 8q23.1.

MalaCards based summary: 46,xy Sex Reversal 9, also known as 46,xy sex reversal, zfpm2-related, is related to diaphragmatic hernia 3 and testicular thecoma. An important gene associated with 46,xy Sex Reversal 9 is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Nervous system development and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include uterus, testis and ovary, and related phenotypes are autistic behavior and ambiguous genitalia

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

More information from OMIM: 616067 PS400044

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Related Diseases for 46,xy Sex Reversal 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	diaphragmatic hernia 3	10.3	ZFPM2-AS1 ZFPM2
2	testicular thecoma	10.2	ZFPM2 GATA4
3	46,xy sex reversal 3	10.2	NR5A1 GATA4
4	diaphragmatic eventration	10.2	ZFPM2 GATA4
5	tricuspid atresia	10.2	ZFPM2 GATA4
6	double outlet right ventricle	10.1	ZFPM2-AS1 ZFPM2 GATA4
7	leydig cell hypoplasia	10.1	NR5A1 AMH
8	patent ductus arteriosus 1	10.0	ZFPM2 SMAD9 GATA4
9	spermatogenic failure 8	10.0	NR5A1 AR
10	atrial heart septal defect	10.0	ZFPM2 SMAD9 GATA4
11	steroid inherited metabolic disorder	10.0	NR5A1 AMH
12	blepharophimosis, ptosis, and epicanthus inversus	10.0	NR5A1 AMH
13	gender incongruence	10.0	AR AMH
14	ebstein anomaly	10.0	ZFPM2 GATA4
15	46,xx sex reversal 1	9.9	SOX9 NR5A1
16	genetic non-acquired premature ovarian failure	9.9	NR5A1 AMH
17	testicular fibroma	9.9	WT1 NR5A1
18	testicular granulosa cell tumor	9.9	WT1 AMH
19	ovarian sex-cord stromal tumor	9.9	WT1 NR5A1
20	campomelic dysplasia	9.9	SOX9 NR5A1 GATA4
21	testicular gonadoblastoma	9.9	WT1 AMH
22	androgen insensitivity, partial	9.9	NR5A1 AR AMH
23	45,x/46,xy mixed gonadal dysgenesis	9.9	ZFPM2 NR5A1 GATA4 AMH
24	complete androgen insensitivity syndrome	9.9	NR5A1 AR AMH
25	androgen insensitivity syndrome	9.9	NR5A1 AR AMH
26	ovarian large-cell neuroendocrine carcinoma	9.9	WT1 AMH
27	ovarian serous cystadenofibroma	9.8	WT1 AMH
28	diaphragm disease	9.8	ZFPM2 WT1 GATA4
29	prostate leiomyoma	9.8	WT1 AR
30	mixed gonadal dysgenesis	9.8	SOX9 NR5A1 AMH
31	lipoid congenital adrenal hyperplasia	9.8	NR5A1 AR AMH
32	ovarian benign neoplasm	9.8	WT1 AMH
33	ovarian germ cell cancer	9.8	WT1 AMH
34	diaphragmatic hernia, congenital	9.8	ZFPM2 WT1 GATA4
35	adrenal cortical carcinoma	9.8	SDHB NR5A1 GATA4
36	ovarian gonadoblastoma	9.8	WT1 SOX9
37	kidney benign neoplasm	9.7	WT1 SDHB
38	juvenile type testicular granulosa cell tumor	9.7	WT1 NR5A1 AMH
39	sex cord-gonadal stromal tumor	9.7	WT1 NR5A1 AMH
40	hermaphroditism	9.7	ZFPM2 SOX9 NR5A1 AMH
41	pancreatic agenesis	9.7	SOX9 GATA4
42	sertoli cell tumor	9.7	WT1 NR5A1 AR
43	mayer-rokitansky-kuster-hauser syndrome	9.7	WT1 AMH
44	46,xy sex reversal 2	9.6	WT1 SOX9 NR5A1
45	frasier syndrome	9.6	WT1 SOX9 NR5A1
46	tetralogy of fallot	9.6	ZFPM2-AS1 ZFPM2 SOX9 SMAD9 GATA4
47	17-beta hydroxysteroid dehydrogenase iii deficiency	9.6	SOX9 NR5A1 AR AMH
48	hypogonadotropic hypogonadism	9.5	SOX9 NR5A1 AR AMH
49	wilms tumor 1	9.5	WT1 SOX9 NR5A1 GATA4
50	46,xx sex reversal	9.4	WT1 SOX9 NR5A1 AMH

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 9:

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Symptoms & Phenotypes for 46,xy Sex Reversal 9

Human phenotypes related to 46,xy Sex Reversal 9:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	autistic behavior ³⁰	Occasional (7.5%)	HP:0000729
2	ambiguous genitalia ³⁰		HP:0000062
3	gonadal dysgenesis ³⁰		HP:0000133
4	sex reversal ³⁰		HP:0012245
5	fused labia minora ³⁰		HP:0000063

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Genitourinary External Genitalia Female:
fused labia minora
hypertrophic labia majora

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)

Genitourinary Internal Genitalia Female:
rudimentary vaginal cavity may be present
rudimentary uterus may be present

Neurologic Central Nervous System:
learning and language difficulties (in some patients)
subtentorial ventricular dilation (in some patients)

Genitourinary External Genitalia Male:
ambiguous external genitalia
genital tubercle present at birth
striated genital folds

Genitourinary Internal Genitalia Male:
partial or complete gonadal dysgenesis
absence of germ cells on histology

Skeletal Hands:
bilateral fifth-finger clinodactyly (in some patients)

Clinical features from OMIM®:

616067 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to 46,xy Sex Reversal 9:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	10.09	AR GATA2 GATA4 NR5A1 SDHB SMAD9
2	endocrine/exocrine gland	MP:0005379	10.02	AMH AR GATA2 GATA4 NR5A1 SDHB
3	no phenotypic analysis	MP:0003012	9.95	AMH GATA4 SDHB SMAD9 SOX9 WT1
4	muscle	MP:0005369	9.91	AR CTBP2 GATA4 SMAD9 SOX9 WT1
5	embryo	MP:0005380	9.86	AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
6	neoplasm	MP:0002006	9.85	AMH AR SDHB SMAD9 WT1
7	cardiovascular system	MP:0005385	9.81	AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
8	reproductive system	MP:0005389	9.61	AMH AR GATA2 GATA4 NR5A1 SMAD9
9	mortality/aging	MP:0010768	9.32	AR CTBP2 GATA2 GATA4 NR5A1 SDHB

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Drugs & Therapeutics for 46,xy Sex Reversal 9

Search Clinical Trials, NIH Clinical Center for 46,xy Sex Reversal 9

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Genetic Tests for 46,xy Sex Reversal 9

Genetic tests related to 46,xy Sex Reversal 9:

#	Genetic test	Affiliating Genes
1	46,xy Sex Reversal 9 ²⁸	ZFPM2

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Anatomical Context for 46,xy Sex Reversal 9

Organs/tissues related to 46,xy Sex Reversal 9:

MalaCards : Uterus, Testis, Ovary

ODiseA: Testis, Ovary

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Publications for 46,xy Sex Reversal 9

Articles related to 46,xy Sex Reversal 9:

#	Title	Authors	PMID	Year
1	Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. ⁵⁷ ⁵	Bashamboo A...McElreavey K	24549039	2014
2	Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. ⁵	Marinakis NM...Traeger-Synodinos J	34008892	2021
3	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ⁵	De Luca A...Dallapiccola B	20807224	2011

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Genes for 46,xy Sex Reversal 9

Genes related to 46,xy Sex Reversal 9 (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1339.54	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	24549039 34008892
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	24549039
3	ADAT3	Adenosine Deaminase TRNA Specific 3	Protein Coding	5.75	DISEASES inferred ¹⁴
4	GATA4	GATA Binding Protein 4	Protein Coding	5.11	DISEASES inferred ¹⁴
5	CTBP2	C-Terminal Binding Protein 2	Protein Coding	4.59	DISEASES inferred ¹⁴
6	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	4.09	DISEASES inferred ¹⁴
7	SMAD9	SMAD Family Member 9	Protein Coding	3.94	DISEASES inferred ¹⁴
8	GATA2	GATA Binding Protein 2	Protein Coding	3.74	DISEASES inferred ¹⁴
9	AMH	Anti-Mullerian Hormone	Protein Coding	3.6	DISEASES inferred ¹⁴
10	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	3.53	DISEASES inferred ¹⁴
11	SOX9	SRY-Box Transcription Factor 9	Protein Coding	3.32	DISEASES inferred ¹⁴
12	WT1	WT1 Transcription Factor	Protein Coding	3.18	DISEASES inferred ¹⁴
13	AR	Androgen Receptor	Protein Coding	2.82	DISEASES inferred ¹⁴

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Variations for 46,xy Sex Reversal 9

ClinVar genetic disease variations for 46,xy Sex Reversal 9:

⁵ (show top 50) (show all 132)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)	SNV	Pathogenic	156583	rs606231252	GRCh37: 8:106813516-106813516 GRCh38: 8:105801288-105801288
2	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	SNV	Pathogenic	156584	rs200834568	GRCh37: 8:106810991-106810991 GRCh38: 8:105798763-105798763
3	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)	SNV	Pathogenic	1451277		GRCh37: 8:106811143-106811143 GRCh38: 8:105798915-105798915
4	ZFPM2	NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp)	SNV	Likely Pathogenic	1299632		GRCh37: 8:106431523-106431523 GRCh38: 8:105419295-105419295
5	ZFPM2	NM_012082.4(ZFPM2):c.421-10C>A	SNV	Uncertain Significance	1371484		GRCh37: 8:106646464-106646464 GRCh38: 8:105634236-105634236
6	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg)	SNV	Uncertain Significance	1416462		GRCh37: 8:106813949-106813949 GRCh38: 8:105801721-105801721
7	ZFPM2	NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)	SNV	Uncertain Significance	477992	rs373855468	GRCh37: 8:106646497-106646497 GRCh38: 8:105634269-105634269
8	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His)	SNV	Uncertain Significance	578695	rs747995106	GRCh37: 8:106814961-106814961 GRCh38: 8:105802733-105802733
9	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)	SNV	Uncertain Significance	560631	rs200311467	GRCh37: 8:106813628-106813628 GRCh38: 8:105801400-105801400
10	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys)	SNV	Uncertain Significance	648901	rs371546027	GRCh37: 8:106814516-106814516 GRCh38: 8:105802288-105802288
11	ZFPM2	NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)	SNV	Uncertain Significance	942265	rs200671886	GRCh37: 8:106646516-106646516 GRCh38: 8:105634288-105634288
12	ZFPM2	NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)	SNV	Uncertain Significance	477991	rs772114579	GRCh37: 8:106573653-106573653 GRCh38: 8:105561425-105561425
13	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly)	SNV	Uncertain Significance	477990	rs1554583419	GRCh37: 8:106815644-106815644 GRCh38: 8:105803416-105803416
14	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro)	SNV	Uncertain Significance	240842	rs368486644	GRCh37: 8:106814406-106814406 GRCh38: 8:105802178-105802178
15	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp)	SNV	Uncertain Significance	406537	rs149688628	GRCh37: 8:106815604-106815604 GRCh38: 8:105803376-105803376
16	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser)	SNV	Uncertain Significance	477988	rs1554583195	GRCh37: 8:106814456-106814456 GRCh38: 8:105802228-105802228
17	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)	SNV	Uncertain Significance	544220	rs201729935	GRCh37: 8:106815396-106815396 GRCh38: 8:105803168-105803168
18	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala)	SNV	Uncertain Significance	578784	rs1563574497	GRCh37: 8:106814694-106814694 GRCh38: 8:105802466-105802466
19	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn)	SNV	Uncertain Significance	638874	rs201707218	GRCh37: 8:106815279-106815279 GRCh38: 8:105803051-105803051
20	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)	SNV	Uncertain Significance	644327	rs756076552	GRCh37: 8:106814199-106814199 GRCh38: 8:105801971-105801971
21	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met)	SNV	Uncertain Significance	644422	rs771923819	GRCh37: 8:106813584-106813584 GRCh38: 8:105801356-105801356
22	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser)	SNV	Uncertain Significance	647578	rs374095734	GRCh37: 8:106814610-106814610 GRCh38: 8:105802382-105802382
23	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro)	SNV	Uncertain Significance	660176	rs1586283411	GRCh37: 8:106813520-106813520 GRCh38: 8:105801292-105801292
24	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro)	SNV	Uncertain Significance	660458	rs1586283783	GRCh37: 8:106813746-106813746 GRCh38: 8:105801518-105801518
25	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)	SNV	Uncertain Significance	857370	rs368572530	GRCh37: 8:106801030-106801030 GRCh38: 8:105788802-105788802
26	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu)	SNV	Uncertain Significance	864127	rs759084301	GRCh37: 8:106815240-106815240 GRCh38: 8:105803012-105803012
27	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn)	SNV	Uncertain Significance	944916	rs201644250	GRCh37: 8:106815245-106815245 GRCh38: 8:105803017-105803017
28	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys)	SNV	Uncertain Significance	953486	rs778808844	GRCh37: 8:106814960-106814960 GRCh38: 8:105802732-105802732
29	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu)	SNV	Uncertain Significance	964519	rs765282505	GRCh37: 8:106814429-106814429 GRCh38: 8:105802201-105802201
30	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)	SNV	Uncertain Significance	968743	rs779361639	GRCh37: 8:106815293-106815293 GRCh38: 8:105803065-105803065
31	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys)	SNV	Uncertain Significance	1008833	rs373471482	GRCh37: 8:106801077-106801077 GRCh38: 8:105788849-105788849
32	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys)	SNV	Uncertain Significance	1018642	rs908430101	GRCh37: 8:106815213-106815213 GRCh38: 8:105802985-105802985
33	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu)	SNV	Uncertain Significance	1025375	rs367893066	GRCh37: 8:106814903-106814903 GRCh38: 8:105802675-105802675
34	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu)	SNV	Uncertain Significance	1025608	rs753602172	GRCh37: 8:106814943-106814943 GRCh38: 8:105802715-105802715
35	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=)	SNV	Uncertain Significance	1040149	rs536037180	GRCh37: 8:106814176-106814176 GRCh38: 8:105801948-105801948
36	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu)	SNV	Uncertain Significance	1040935	rs1814096724	GRCh37: 8:106815471-106815471 GRCh38: 8:105803243-105803243
37	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln)	SNV	Uncertain Significance	1046639	rs773843701	GRCh37: 8:106814031-106814031 GRCh38: 8:105801803-105801803
38	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu)	SNV	Uncertain Significance	1055629		GRCh37: 8:106814540-106814540 GRCh38: 8:105802312-105802312
39	ZFPM2	NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)	SNV	Uncertain Significance	1058526		GRCh37: 8:106431405-106431405 GRCh38: 8:105419177-105419177
40	ZFPM2	NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)	SNV	Uncertain Significance	1061068		GRCh37: 8:106431452-106431452 GRCh38: 8:105419224-105419224
41	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys)	SNV	Uncertain Significance	1061567		GRCh37: 8:106814605-106814605 GRCh38: 8:105802377-105802377
42	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met)	SNV	Uncertain Significance	1463649		GRCh37: 8:106814844-106814844 GRCh38: 8:105802616-105802616
43	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu)	SNV	Uncertain Significance	1448705		GRCh37: 8:106814003-106814003 GRCh38: 8:105801775-105801775
44	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu)	SNV	Uncertain Significance	1349234		GRCh37: 8:106815069-106815069 GRCh38: 8:105802841-105802841
45	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg)	SNV	Uncertain Significance	1407804		GRCh37: 8:106814703-106814703 GRCh38: 8:105802475-105802475
46	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly)	SNV	Uncertain Significance	1398967		GRCh37: 8:106814855-106814855 GRCh38: 8:105802627-105802627
47	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)	SNV	Uncertain Significance	1429169		GRCh37: 8:106801006-106801006 GRCh38: 8:105788778-105788778
48	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser)	SNV	Uncertain Significance	1428059		GRCh37: 8:106815072-106815072 GRCh38: 8:105802844-105802844
49	ZFPM2	NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)	SNV	Uncertain Significance	1474338		GRCh37: 8:106573611-106573611 GRCh38: 8:105561383-105561383
50	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala)	SNV	Uncertain Significance	1494404		GRCh37: 8:106810972-106810972 GRCh38: 8:105798744-105798744

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 9:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ZFPM2	p.Arg260Gln	VAR_071104	rs200834568
2	ZFPM2	p.Ser402Arg	VAR_071105	rs606231252
3	ZFPM2	p.Met544Ile	VAR_072075	rs187043152

Sources

Expression for 46,xy Sex Reversal 9

Search GEO for disease gene expression data for 46,xy Sex Reversal 9.

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Pathways for 46,xy Sex Reversal 9

Pathways related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.06	ZFPM2 WT1 SOX9 NR5A1 GATA4 GATA2
2	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.38	WT1 SOX9 GATA4 GATA2
3	Mammalian disorder of sexual development ⁷⁴ Show member pathways Somatic sex determination ⁷⁴ Transcriptional regulation of testis differentiation ⁶⁶	10.79	ZFPM2 WT1 SOX9 NR5A1 GATA4 AMH
4	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.6	SMAD9 GATA4

Sources

GO Terms for 46,xy Sex Reversal 9

Cellular components related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.4	ZFPM2 SOX9 SMAD9 NR5A1 GATA4 AR

Biological processes related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	10.37	ZFPM2 WT1 SOX9 GATA4 GATA2 CTBP2
2	positive regulation of transcription by RNA polymerase II	GO:0045944	10.34	AR CTBP2 GATA2 GATA4 NR5A1 SOX9
3	positive regulation of DNA-templated transcription	GO:0045893	10.27	AR GATA4 NR5A1 SOX9 WT1 ZFPM2
4	regulation of transcription by RNA polymerase II	GO:0006357	10.25	AR CTBP2 GATA2 GATA4 NR5A1 SMAD9
5	positive regulation of gene expression	GO:0010628	10.23	WT1 SOX9 NR5A1 GATA2 AR AMH
6	regulation of DNA-templated transcription	GO:0006355	10.21	WT1 SOX9 SMAD9 NR5A1 GATA4 GATA2
7	heart development	GO:0007507	10.16	ZFPM2 WT1 SOX9 GATA4
8	cell differentiation	GO:0030154	10.13	ZFPM2 SOX9 SMAD9 GATA4 GATA2 CTBP2
9	cell fate commitment	GO:0045165	9.99	SOX9 GATA4 GATA2
10	positive regulation of miRNA transcription	GO:1902895	9.97	WT1 GATA2 AR
11	urogenital system development	GO:0001655	9.93	GATA2 AMH
12	anatomical structure morphogenesis	GO:0009653	9.93	GATA2 GATA4 SMAD9 ZFPM2
13	intestinal epithelial cell differentiation	GO:0060575	9.92	SOX9 GATA4
14	tissue development	GO:0009888	9.91	WT1 NR5A1 GATA4
15	gonadal mesoderm development	GO:0007506	9.9	AMH ZFPM2
16	Sertoli cell differentiation	GO:0060008	9.88	SOX9 NR5A1
17	Leydig cell differentiation	GO:0033327	9.85	NR5A1 AR AMH
18	male gonad development	GO:0008584	9.85	WT1 SOX9 NR5A1 GATA4 AR
19	gonad development	GO:0008406	9.8	WT1 AMH
20	male sex determination	GO:0030238	9.8	SOX9 NR5A1
21	glandular epithelial cell differentiation	GO:0002067	9.78	GATA2 SOX9
22	sex determination	GO:0007530	9.73	AMH NR5A1 WT1
23	regulation of cell differentiation	GO:0045595	9.72	ZFPM2 SOX9 GATA2
24	animal organ development	GO:0048513	9.67	GATA2 GATA4 ZFPM2
25	system development	GO:0048731	9.5	ZFPM2 GATA4 GATA2
26	negative regulation of female gonad development	GO:2000195	9.43	ZFPM2 WT1 NR5A1
27	positive regulation of male gonad development	GO:2000020	9.23	ZFPM2 WT1 SOX9 NR5A1

Molecular functions related to 46,xy Sex Reversal 9 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.3	AR GATA2 GATA4 NR5A1 SMAD9 SOX9
2	zinc ion binding	GO:0008270	10.26	ZFPM2 WT1 NR5A1 GATA4 GATA2 AR
3	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	10.21	AR GATA2 GATA4 NR5A1 SMAD9 SOX9
4	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	10.13	WT1 SOX9 GATA4 GATA2 AR
5	chromatin binding	GO:0003682	10.1	SOX9 NR5A1 GATA2 CTBP2 AR
6	DNA binding	GO:0003677	10.06	ZFPM2 WT1 SOX9 SMAD9 NR5A1 GATA4
7	transcription cis-regulatory region binding	GO:0000976	10.04	WT1 SOX9 GATA4 AR
8	RNA polymerase II-specific DNA-binding transcription factor binding	GO:0061629	9.86	ZFPM2 GATA4 GATA2 AR
9	C2H2 zinc finger domain binding	GO:0070742	9.81	WT1 GATA2
10	DNA-binding transcription factor activity	GO:0003700	9.7	WT1 SOX9 NR5A1 GATA4 GATA2 AR
11	transcription coregulator binding	GO:0001221	9.63	CTBP2 GATA2 NR5A1
12	sequence-specific DNA binding	GO:0043565	9.32	WT1 SOX9 NR5A1 GATA4 GATA2 AR

Sources

Sources for 46,xy Sex Reversal 9

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SRXY9 MCID: 46X030 MIFTS: 44	46,xy Sex Reversal 9 (SRXY9) Categories: Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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46,xy Sex Reversal 9 (SRXY9)

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Sources for 46,xy Sex Reversal 9