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SRXY9
MCID: 46X030
MIFTS: 23

46,xy Sex Reversal 9 (SRXY9)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for 46,xy Sex Reversal 9

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


HPO:

32
46,xy sex reversal 9:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 616067
MeSH 44 D006061
UMLS 73 C4015129
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Summaries for 46,xy Sex Reversal 9

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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 autistic behavior

Description from OMIM: 616067
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Related Diseases for 46,xy Sex Reversal 9

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Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
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

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 9.8 ZFPM2 ZFPM2-AS1
2 double outlet right ventricle 9.8 ZFPM2 ZFPM2-AS1
3 tetralogy of fallot 9.7 ZFPM2 ZFPM2-AS1

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Symptoms & Phenotypes for 46,xy Sex Reversal 9

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to 46,xy Sex Reversal 9:

32
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 32 HP:0000062
2 autistic behavior 32 occasional (7.5%) HP:0000729
3 sex reversal 32 HP:0012245
4 gonadal dysgenesis 32 HP:0000133
5 fused labia minora 32 HP:0000063
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Drugs & Therapeutics for 46,xy Sex Reversal 9

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

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Genetic Tests for 46,xy Sex Reversal 9

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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

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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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Variations for 46,xy Sex Reversal 9

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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 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFPM2 NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly) single nucleotide variant Benign rs28374544 GRCh37 Chromosome 8, 106814279: 106814279
2 ZFPM2 NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly) single nucleotide variant Benign rs28374544 GRCh38 Chromosome 8, 105802051: 105802051
3 ZFPM2 NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly) single nucleotide variant Likely benign rs121908601 GRCh37 Chromosome 8, 106431420: 106431420
4 ZFPM2 NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly) single nucleotide variant Likely benign rs121908601 GRCh38 Chromosome 8, 105419192: 105419192
5 ZFPM2 NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs187043152 GRCh38 Chromosome 8, 105801714: 105801714
6 ZFPM2 NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs187043152 GRCh37 Chromosome 8, 106813942: 106813942
7 ZFPM2 NM_012082.3(ZFPM2): c.1206T> A (p.Ser402Arg) single nucleotide variant Pathogenic rs606231252 GRCh38 Chromosome 8, 105801288: 105801288
8 ZFPM2 NM_012082.3(ZFPM2): c.1206T> A (p.Ser402Arg) single nucleotide variant Pathogenic rs606231252 GRCh37 Chromosome 8, 106813516: 106813516
9 ZFPM2 NM_012082.3(ZFPM2): c.779G> A (p.Arg260Gln) single nucleotide variant Pathogenic rs200834568 GRCh38 Chromosome 8, 105798763: 105798763
10 ZFPM2 NM_012082.3(ZFPM2): c.779G> A (p.Arg260Gln) single nucleotide variant Pathogenic rs200834568 GRCh37 Chromosome 8, 106810991: 106810991
11 ZFPM2 NM_012082.3(ZFPM2): c.292G> A (p.Asp98Asn) single nucleotide variant Benign rs202217256 GRCh37 Chromosome 8, 106456600: 106456600
12 ZFPM2 NM_012082.3(ZFPM2): c.292G> A (p.Asp98Asn) single nucleotide variant Benign rs202217256 GRCh38 Chromosome 8, 105444372: 105444372
13 ZFPM2 NM_012082.3(ZFPM2): c.2096A> C (p.His699Pro) single nucleotide variant Uncertain significance rs368486644 GRCh38 Chromosome 8, 105802178: 105802178
14 ZFPM2 NM_012082.3(ZFPM2): c.2096A> C (p.His699Pro) single nucleotide variant Uncertain significance rs368486644 GRCh37 Chromosome 8, 106814406: 106814406
15 ZFPM2 NM_012082.3(ZFPM2): c.2665C> G (p.Gln889Glu) single nucleotide variant Benign rs146423225 GRCh38 Chromosome 8, 105802747: 105802747
16 ZFPM2 NM_012082.3(ZFPM2): c.2665C> G (p.Gln889Glu) single nucleotide variant Benign rs146423225 GRCh37 Chromosome 8, 106814975: 106814975
17 ZFPM2 NM_012082.3(ZFPM2): c.629G> C (p.Ser210Thr) single nucleotide variant Benign/Likely benign rs182216711 GRCh37 Chromosome 8, 106801042: 106801042
18 ZFPM2 NM_012082.3(ZFPM2): c.629G> C (p.Ser210Thr) single nucleotide variant Benign/Likely benign rs182216711 GRCh38 Chromosome 8, 105788814: 105788814
19 ZFPM2 NM_012082.3(ZFPM2): c.1776T> C (p.Pro592=) single nucleotide variant Benign rs16873732 GRCh37 Chromosome 8, 106814086: 106814086
20 ZFPM2 NM_012082.3(ZFPM2): c.1776T> C (p.Pro592=) single nucleotide variant Benign rs16873732 GRCh38 Chromosome 8, 105801858: 105801858
21 ZFPM2 NM_012082.3(ZFPM2): c.2385C> G (p.Val795=) single nucleotide variant Benign rs35998713 GRCh37 Chromosome 8, 106814695: 106814695
22 ZFPM2 NM_012082.3(ZFPM2): c.2385C> G (p.Val795=) single nucleotide variant Benign rs35998713 GRCh38 Chromosome 8, 105802467: 105802467
23 ZFPM2 NM_012082.3(ZFPM2): c.2976T> C (p.Tyr992=) single nucleotide variant Benign rs1442320 GRCh37 Chromosome 8, 106815286: 106815286
24 ZFPM2 NM_012082.3(ZFPM2): c.2976T> C (p.Tyr992=) single nucleotide variant Benign rs1442320 GRCh38 Chromosome 8, 105803058: 105803058
25 ZFPM2 NM_012082.3(ZFPM2): c.3164C> T (p.Ala1055Val) single nucleotide variant Benign rs16873741 GRCh38 Chromosome 8, 105803246: 105803246
26 ZFPM2 NM_012082.3(ZFPM2): c.3164C> T (p.Ala1055Val) single nucleotide variant Benign rs16873741 GRCh37 Chromosome 8, 106815474: 106815474
27 ZFPM2 NM_012082.3(ZFPM2): c.2287G> A (p.Val763Ile) single nucleotide variant Benign rs117908591 GRCh37 Chromosome 8, 106814597: 106814597
28 ZFPM2 NM_012082.3(ZFPM2): c.2287G> A (p.Val763Ile) single nucleotide variant Benign rs117908591 GRCh38 Chromosome 8, 105802369: 105802369
29 ZFPM2 NM_012082.3(ZFPM2): c.3294G> C (p.Glu1098Asp) single nucleotide variant Uncertain significance rs149688628 GRCh37 Chromosome 8, 106815604: 106815604
30 ZFPM2 NM_012082.3(ZFPM2): c.3294G> C (p.Glu1098Asp) single nucleotide variant Uncertain significance rs149688628 GRCh38 Chromosome 8, 105803376: 105803376
31 ZFPM2 NM_012082.3(ZFPM2): c.822T> C (p.Ser274=) single nucleotide variant Likely benign rs777185799 GRCh37 Chromosome 8, 106811034: 106811034
32 ZFPM2 NM_012082.3(ZFPM2): c.822T> C (p.Ser274=) single nucleotide variant Likely benign rs777185799 GRCh38 Chromosome 8, 105798806: 105798806
33 ZFPM2 NM_012082.3(ZFPM2): c.1164C> T (p.Ser388=) single nucleotide variant Likely benign rs376392532 GRCh37 Chromosome 8, 106813474: 106813474
34 ZFPM2 NM_012082.3(ZFPM2): c.1164C> T (p.Ser388=) single nucleotide variant Likely benign rs376392532 GRCh38 Chromosome 8, 105801246: 105801246
35 ZFPM2 NM_012082.3(ZFPM2): c.965-4_965-3delCT deletion Benign rs1060504158 GRCh37 Chromosome 8, 106813271: 106813272
36 ZFPM2 NM_012082.3(ZFPM2): c.965-4_965-3delCT deletion Benign rs1060504158 GRCh38 Chromosome 8, 105801043: 105801044
37 ZFPM2 NM_012082.3(ZFPM2): c.3369A> G (p.Leu1123=) single nucleotide variant Benign rs16873744 GRCh37 Chromosome 8, 106815679: 106815679
38 ZFPM2 NM_012082.3(ZFPM2): c.3369A> G (p.Leu1123=) single nucleotide variant Benign rs16873744 GRCh38 Chromosome 8, 105803451: 105803451
39 ZFPM2 NM_012082.3(ZFPM2): c.2146C> T (p.Pro716Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 106814456: 106814456
40 ZFPM2 NM_012082.3(ZFPM2): c.364G> T (p.Val122Leu) single nucleotide variant Uncertain significance rs772114579 GRCh38 Chromosome 8, 105561425: 105561425
41 ZFPM2 NM_012082.3(ZFPM2): c.364G> T (p.Val122Leu) single nucleotide variant Uncertain significance rs772114579 GRCh37 Chromosome 8, 106573653: 106573653
42 ZFPM2 NM_012082.3(ZFPM2): c.2146C> T (p.Pro716Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 105802228: 105802228
43 ZFPM2 NM_012082.3(ZFPM2): c.3334A> G (p.Ser1112Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 106815644: 106815644
44 ZFPM2 NM_012082.3(ZFPM2): c.3334A> G (p.Ser1112Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 105803416: 105803416
45 ZFPM2 NM_012082.3(ZFPM2): c.444G> C (p.Met148Ile) single nucleotide variant Uncertain significance rs373855468 GRCh38 Chromosome 8, 105634269: 105634269
46 ZFPM2 NM_012082.3(ZFPM2): c.444G> C (p.Met148Ile) single nucleotide variant Uncertain significance rs373855468 GRCh37 Chromosome 8, 106646497: 106646497
47 ZFPM2 NM_012082.3(ZFPM2): c.3078G> A (p.Ala1026=) single nucleotide variant Benign rs200049316 GRCh38 Chromosome 8, 105803160: 105803160
48 ZFPM2 NM_012082.3(ZFPM2): c.3078G> A (p.Ala1026=) single nucleotide variant Benign rs200049316 GRCh37 Chromosome 8, 106815388: 106815388
49 ZFPM2 NM_012082.3(ZFPM2): c.3086A> T (p.Lys1029Ile) single nucleotide variant Uncertain significance rs201729935 GRCh38 Chromosome 8, 105803168: 105803168
50 ZFPM2 NM_012082.3(ZFPM2): c.3086A> T (p.Lys1029Ile) single nucleotide variant Uncertain significance rs201729935 GRCh37 Chromosome 8, 106815396: 106815396
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Expression for 46,xy Sex Reversal 9

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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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Sources for 46,xy Sex Reversal 9

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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