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

MCID: 46X030 MIFTS: 20	46,xy Sex Reversal 9 Categories: Genetic diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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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 ⁷⁵ ²⁹ ⁶ ⁷³

46,xy Sex Reversal, Zfpm2-Related ⁵⁷ ⁷⁵

Srxy9 ⁵⁷ ⁷⁵

Sex Reversal, 46xy, Type 9 ⁴⁰

46xy Sex Reversal 9 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

46,xy sex reversal 9:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616067

MedGen ⁴² C4015129 CN220529

MeSH ⁴⁴ D006061

SNOMED-CT via HPO ⁶⁹ 263681008 21321009

UMLS ⁷³ C4015129

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Summaries for 46,xy Sex Reversal 9

UniProtKB/Swiss-Prot : ⁷⁵ 46,XY sex reversal 9: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia.

MalaCards based summary : 46,xy Sex Reversal 9, also known as 46,xy sex reversal, zfpm2-related, is related to diaphragmatic hernia 3 and double outlet right ventricle. An important gene associated with 46,xy Sex Reversal 9 is ZFPM2 (Zinc Finger Protein, FOG Family Member 2). Affiliated tissues include uterus, and related phenotypes are ambiguous genitalia and fused labia minora

Description from OMIM: 616067

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Related Diseases for 46,xy Sex Reversal 9

Diseases related to 46,xy Sex Reversal 9 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	diaphragmatic hernia 3	9.3	ZFPM2 ZFPM2-AS1
2	double outlet right ventricle	9.2	ZFPM2 ZFPM2-AS1
3	tetralogy of fallot	9.0	ZFPM2 ZFPM2-AS1

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Symptoms & Phenotypes for 46,xy Sex Reversal 9

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

GenitourinaryInternal GenitaliaMale:
partial or complete gonadal dysgenesis
absence of germ cells on histology

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

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

Genitourinary External Genitalia Female:
hypertrophic labia majora
fused labia minora

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)

Clinical features from OMIM:

616067

Human phenotypes related to 46,xy Sex Reversal 9:

³²

#	Description	HPO Frequency	HPO Source Accession
1	ambiguous genitalia ³²		HP:0000062
2	fused labia minora ³²		HP:0000063
3	autistic behavior ³²	occasional (7.5%)	HP:0000729
4	sex reversal ³²		HP:0012245

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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 ²⁹	ZFPM2

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Anatomical Context for 46,xy Sex Reversal 9

MalaCards organs/tissues related to 46,xy Sex Reversal 9:

⁴¹

Uterus

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Publications for 46,xy Sex Reversal 9

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Genes for 46,xy Sex Reversal 9

Genes related to 46,xy Sex Reversal 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1330.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	9.72	GeneCards inferred via : Variants (show sections)

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Variations for 46,xy Sex Reversal 9

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

⁷⁵

#	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

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

⁶

(show top 50) (show all 60)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ZFPM2	NM_012082.3(ZFPM2): c.1206T> A (p.Ser402Arg)	single nucleotide variant	Pathogenic	rs606231252	GRCh38	Chromosome 8, 105801288: 105801288
2	ZFPM2	NM_012082.3(ZFPM2): c.1206T> A (p.Ser402Arg)	single nucleotide variant	Pathogenic	rs606231252	GRCh37	Chromosome 8, 106813516: 106813516
3	ZFPM2	NM_012082.3(ZFPM2): c.779G> A (p.Arg260Gln)	single nucleotide variant	Pathogenic	rs200834568	GRCh38	Chromosome 8, 105798763: 105798763
4	ZFPM2	NM_012082.3(ZFPM2): c.779G> A (p.Arg260Gln)	single nucleotide variant	Pathogenic	rs200834568	GRCh37	Chromosome 8, 106810991: 106810991
5	ZFPM2	NM_012082.3(ZFPM2): c.292G> A (p.Asp98Asn)	single nucleotide variant	Benign	rs202217256	GRCh37	Chromosome 8, 106456600: 106456600
6	ZFPM2	NM_012082.3(ZFPM2): c.292G> A (p.Asp98Asn)	single nucleotide variant	Benign	rs202217256	GRCh38	Chromosome 8, 105444372: 105444372
7	ZFPM2	NM_012082.3(ZFPM2): c.2096A> C (p.His699Pro)	single nucleotide variant	Uncertain significance	rs368486644	GRCh38	Chromosome 8, 105802178: 105802178
8	ZFPM2	NM_012082.3(ZFPM2): c.2096A> C (p.His699Pro)	single nucleotide variant	Uncertain significance	rs368486644	GRCh37	Chromosome 8, 106814406: 106814406
9	ZFPM2	NM_012082.3(ZFPM2): c.2665C> G (p.Gln889Glu)	single nucleotide variant	Benign	rs146423225	GRCh38	Chromosome 8, 105802747: 105802747
10	ZFPM2	NM_012082.3(ZFPM2): c.2665C> G (p.Gln889Glu)	single nucleotide variant	Benign	rs146423225	GRCh37	Chromosome 8, 106814975: 106814975
11	ZFPM2	NM_012082.3(ZFPM2): c.629G> C (p.Ser210Thr)	single nucleotide variant	Benign	rs182216711	GRCh37	Chromosome 8, 106801042: 106801042
12	ZFPM2	NM_012082.3(ZFPM2): c.629G> C (p.Ser210Thr)	single nucleotide variant	Benign	rs182216711	GRCh38	Chromosome 8, 105788814: 105788814
13	ZFPM2	NM_012082.3(ZFPM2): c.1776T> C (p.Pro592=)	single nucleotide variant	Benign	rs16873732	GRCh37	Chromosome 8, 106814086: 106814086
14	ZFPM2	NM_012082.3(ZFPM2): c.1776T> C (p.Pro592=)	single nucleotide variant	Benign	rs16873732	GRCh38	Chromosome 8, 105801858: 105801858
15	ZFPM2	NM_012082.3(ZFPM2): c.2385C> G (p.Val795=)	single nucleotide variant	Benign	rs35998713	GRCh37	Chromosome 8, 106814695: 106814695
16	ZFPM2	NM_012082.3(ZFPM2): c.2385C> G (p.Val795=)	single nucleotide variant	Benign	rs35998713	GRCh38	Chromosome 8, 105802467: 105802467
17	ZFPM2	NM_012082.3(ZFPM2): c.2976T> C (p.Tyr992=)	single nucleotide variant	Benign	rs1442320	GRCh37	Chromosome 8, 106815286: 106815286
18	ZFPM2	NM_012082.3(ZFPM2): c.2976T> C (p.Tyr992=)	single nucleotide variant	Benign	rs1442320	GRCh38	Chromosome 8, 105803058: 105803058
19	ZFPM2	NM_012082.3(ZFPM2): c.3164C> T (p.Ala1055Val)	single nucleotide variant	Benign	rs16873741	GRCh38	Chromosome 8, 105803246: 105803246
20	ZFPM2	NM_012082.3(ZFPM2): c.3164C> T (p.Ala1055Val)	single nucleotide variant	Benign	rs16873741	GRCh37	Chromosome 8, 106815474: 106815474
21	ZFPM2	NM_012082.3(ZFPM2): c.2287G> A (p.Val763Ile)	single nucleotide variant	Benign	rs117908591	GRCh37	Chromosome 8, 106814597: 106814597
22	ZFPM2	NM_012082.3(ZFPM2): c.2287G> A (p.Val763Ile)	single nucleotide variant	Benign	rs117908591	GRCh38	Chromosome 8, 105802369: 105802369
23	ZFPM2	NM_012082.3(ZFPM2): c.3294G> C (p.Glu1098Asp)	single nucleotide variant	Uncertain significance	rs149688628	GRCh37	Chromosome 8, 106815604: 106815604
24	ZFPM2	NM_012082.3(ZFPM2): c.3294G> C (p.Glu1098Asp)	single nucleotide variant	Uncertain significance	rs149688628	GRCh38	Chromosome 8, 105803376: 105803376
25	ZFPM2	NM_012082.3(ZFPM2): c.822T> C (p.Ser274=)	single nucleotide variant	Likely benign	rs777185799	GRCh37	Chromosome 8, 106811034: 106811034
26	ZFPM2	NM_012082.3(ZFPM2): c.822T> C (p.Ser274=)	single nucleotide variant	Likely benign	rs777185799	GRCh38	Chromosome 8, 105798806: 105798806
27	ZFPM2	NM_012082.3(ZFPM2): c.1164C> T (p.Ser388=)	single nucleotide variant	Likely benign	rs376392532	GRCh37	Chromosome 8, 106813474: 106813474
28	ZFPM2	NM_012082.3(ZFPM2): c.1164C> T (p.Ser388=)	single nucleotide variant	Likely benign	rs376392532	GRCh38	Chromosome 8, 105801246: 105801246
29	ZFPM2	NM_012082.3(ZFPM2): c.965-4_965-3delCT	deletion	Benign	rs1060504158	GRCh37	Chromosome 8, 106813271: 106813272
30	ZFPM2	NM_012082.3(ZFPM2): c.965-4_965-3delCT	deletion	Benign	rs1060504158	GRCh38	Chromosome 8, 105801043: 105801044
31	ZFPM2	NM_012082.3(ZFPM2): c.3369A> G (p.Leu1123=)	single nucleotide variant	Benign	rs16873744	GRCh37	Chromosome 8, 106815679: 106815679
32	ZFPM2	NM_012082.3(ZFPM2): c.3369A> G (p.Leu1123=)	single nucleotide variant	Benign	rs16873744	GRCh38	Chromosome 8, 105803451: 105803451
33	ZFPM2	NM_012082.3(ZFPM2): c.364G> T (p.Val122Leu)	single nucleotide variant	Uncertain significance	rs772114579	GRCh38	Chromosome 8, 105561425: 105561425
34	ZFPM2	NM_012082.3(ZFPM2): c.364G> T (p.Val122Leu)	single nucleotide variant	Uncertain significance	rs772114579	GRCh37	Chromosome 8, 106573653: 106573653
35	ZFPM2	NM_012082.3(ZFPM2): c.2146C> T (p.Pro716Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 8, 105802228: 105802228
36	ZFPM2	NM_012082.3(ZFPM2): c.2146C> T (p.Pro716Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 8, 106814456: 106814456
37	ZFPM2	NM_012082.3(ZFPM2): c.3334A> G (p.Ser1112Gly)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 8, 105803416: 105803416
38	ZFPM2	NM_012082.3(ZFPM2): c.3334A> G (p.Ser1112Gly)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 8, 106815644: 106815644
39	ZFPM2	NM_012082.3(ZFPM2): c.444G> C (p.Met148Ile)	single nucleotide variant	Uncertain significance	rs373855468	GRCh38	Chromosome 8, 105634269: 105634269
40	ZFPM2	NM_012082.3(ZFPM2): c.444G> C (p.Met148Ile)	single nucleotide variant	Uncertain significance	rs373855468	GRCh37	Chromosome 8, 106646497: 106646497
41	ZFPM2	NM_012082.3(ZFPM2): c.3078G> A (p.Ala1026=)	single nucleotide variant	Benign	rs200049316	GRCh38	Chromosome 8, 105803160: 105803160
42	ZFPM2	NM_012082.3(ZFPM2): c.3078G> A (p.Ala1026=)	single nucleotide variant	Benign	rs200049316	GRCh37	Chromosome 8, 106815388: 106815388
43	ZFPM2	NM_012082.3(ZFPM2): c.3086A> T (p.Lys1029Ile)	single nucleotide variant	Uncertain significance	rs201729935	GRCh38	Chromosome 8, 105803168: 105803168
44	ZFPM2	NM_012082.3(ZFPM2): c.3086A> T (p.Lys1029Ile)	single nucleotide variant	Uncertain significance	rs201729935	GRCh37	Chromosome 8, 106815396: 106815396
45	ZFPM2	NM_012082.3(ZFPM2): c.240G> T (p.Gly80=)	single nucleotide variant	Uncertain significance	rs765866053	GRCh37	Chromosome 8, 106456548: 106456548
46	ZFPM2	NM_012082.3(ZFPM2): c.240G> T (p.Gly80=)	single nucleotide variant	Uncertain significance	rs765866053	GRCh38	Chromosome 8, 105444320: 105444320
47	ZFPM2	NM_012082.3(ZFPM2): c.533-4A> T	single nucleotide variant	Benign	rs138466839	GRCh37	Chromosome 8, 106800942: 106800942
48	ZFPM2	NM_012082.3(ZFPM2): c.533-4A> T	single nucleotide variant	Benign	rs138466839	GRCh38	Chromosome 8, 105788714: 105788714
49	ZFPM2	NM_012082.3(ZFPM2): c.1276G> A (p.Ala426Thr)	single nucleotide variant	Benign	rs35843564	GRCh37	Chromosome 8, 106813586: 106813586
50	ZFPM2	NM_012082.3(ZFPM2): c.1276G> A (p.Ala426Thr)	single nucleotide variant	Benign	rs35843564	GRCh38	Chromosome 8, 105801358: 105801358

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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

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GO Terms for 46,xy Sex Reversal 9

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