MCID: 46X030
MIFTS: 20

46,xy Sex Reversal 9

Categories: Genetic diseases

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:



External Ids:

OMIM 57 616067
MeSH 44 D006061
SNOMED-CT via HPO 69 263681008 21321009
UMLS 73 C4015129

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

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

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

Drugs & Therapeutics for 46,xy Sex Reversal 9

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

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

Anatomical Context for 46,xy Sex Reversal 9

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

41
Uterus

Publications for 46,xy Sex Reversal 9

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

Expression for 46,xy Sex Reversal 9

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Pathways for 46,xy Sex Reversal 9

GO Terms for 46,xy Sex Reversal 9

Sources for 46,xy Sex Reversal 9

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