SRXY11
MCID: 46X079
MIFTS: 41

46,xy Sex Reversal 11 (SRXY11)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Sex Reversal 11

MalaCards integrated aliases for 46,xy Sex Reversal 11:

Name: 46,xy Sex Reversal 11 57 72
Testicular Regression Syndrome 57 58 72 54 6 70
Trs 57 58 72
Xy Gonadal Agenesis/dysgenesis Syndrome 57 72
Testicular Regression, Embryonic 57 72
Anorchia, Familial 57 72
Srxy11 57 72
Embryonic Testicular Regression Syndrome 58
Testicular Regression Syndrome; Trs 57
Xy Gonadal Agenesis Syndrome 58
Vanishing Testes Syndrome 58
Vanishing Testis Syndrome 58
46, Xy Sex Reversal 11 57
Etrs 58

Characteristics:

Orphanet epidemiological data:

58
testicular regression syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
clinical variability
sex-limited autosomal dominant inheritance
incomplete penetrance has been observed
46,xy individuals may present as male or female

Inheritance:
autosomal dominant (sex limited)


HPO:

31
46,xy sex reversal 11:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 273250
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
MESH via Orphanet 45 C537770
ICD10 via Orphanet 33 Q55.0
UMLS via Orphanet 71 C0266427 C0405582 C1261504
Orphanet 58 ORPHA983
MedGen 41 C0266427
UMLS 70 C0266427

Summaries for 46,xy Sex Reversal 11

OMIM® : 57 SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia (da Silva et al., 2019; McElreavey et al., 2020). The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). (273250) (Updated 20-May-2021)

MalaCards based summary : 46,xy Sex Reversal 11, also known as testicular regression syndrome, is related to anorchia and gonadal dysgenesis. An important gene associated with 46,xy Sex Reversal 11 is DHX37 (DEAH-Box Helicase 37). The drugs Etravirine and Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include testis, uterus and testes, and related phenotypes are decreased fertility and hypoplasia of penis

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 11: An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia.

Related Diseases for 46,xy Sex Reversal 11

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 anorchia 29.7 SRY DHX37
2 gonadal dysgenesis 29.4 SRY DHX37
3 spastic paraplegia 20, autosomal recessive 11.0
4 dyskeratosis congenita 11.0
5 cryptorchidism, unilateral or bilateral 10.1
6 schizophrenia 10.1
7 herpes simplex 10.1
8 gonadal agenesis 10.1
9 severe acute respiratory syndrome 10.1
10 testicular torsion 10.0
11 penis agenesis 10.0
12 osteoporosis 10.0
13 hypogonadism, male 10.0
14 bone mineral density quantitative trait locus 8 10.0
15 bone mineral density quantitative trait locus 15 10.0
16 goiter 10.0
17 hypothyroidism 10.0
18 intermediate coronary syndrome 10.0
19 chronic ulcer of skin 10.0
20 inguinal hernia 10.0
21 infant gynecomastia 10.0
22 gynecomastia 10.0
23 testicular cancer 10.0
24 human immunodeficiency virus type 1 10.0
25 lipoid congenital adrenal hyperplasia 9.9
26 amenorrhea 9.9
27 hypogonadism 9.9
28 germ cell cancer 9.9
29 infertility 9.9
30 hepatocellular carcinoma 9.8
31 type 2 diabetes mellitus 9.8
32 huntington disease 9.8
33 marfan syndrome 9.8
34 myelopathy, htlv-1-associated 9.8
35 schizophrenia 1 9.8
36 neural tube defects 9.8
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
38 fragile x syndrome 9.8
39 ataxia and polyneuropathy, adult-onset 9.8
40 brittle bone disorder 9.8
41 myocardial infarction 9.8
42 helix syndrome 9.8
43 peripheral vascular disease 9.8
44 adult t-cell leukemia 9.8
45 myelomeningocele 9.8
46 dermatomyositis 9.8
47 pre-eclampsia 9.8
48 placenta praevia 9.8
49 heart disease 9.8
50 leukemia 9.8

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 11:



Diseases related to 46,xy Sex Reversal 11

Symptoms & Phenotypes for 46,xy Sex Reversal 11

Human phenotypes related to 46,xy Sex Reversal 11:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
2 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
3 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
4 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
6 absent testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010469
7 abnormality of male internal genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000022
8 abnormal morphology of female internal genitalia 31 hallmark (90%) HP:0000008
9 agonadism 31 hallmark (90%) HP:0008633
10 abnormality of the face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000271
11 primary amenorrhea 31 very rare (1%) HP:0000786
12 urogenital sinus anomaly 31 very rare (1%) HP:0100779
13 gonadal dysgenesis with female appearance, male 31 very rare (1%) HP:0008723
14 abnormality of female internal genitalia 58 Very frequent (99-80%)
15 aplasia of the uterus 31 HP:0000151
16 aplasia/hypoplasia of the testes 58 Very frequent (99-80%)
17 absent gonadal tissue 58 Very frequent (99-80%)
18 elevated circulating follicle stimulating hormone level 31 HP:0008232
19 elevated circulating luteinizing hormone level 31 HP:0011969
20 vanishing testis 31 HP:0012870
21 decreased serum testosterone level 31 HP:0040171
22 absence of pubertal development 31 HP:0008197
23 decreased antimullerian hormone level 31 HP:0031103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
nonpalpable testes
small unilateral testis
epididymis or epididymal-like structures
vas deferens present (rare)
more
Genitourinary External Genitalia Female:
female-appearing external genitalia (in 46,xy individuals)
partial fusion of labia minora (in 46,xy individuals)
poorly developed labia (in 46,xy individuals)
ambiguous genitalia (in 46,xy individuals)

Endocrine Features:
absent puberty
primary amenorrhea (in female-appearing 46,xy individuals)

Genitourinary External Genitalia Male:
micropenis
hypospadias (rare)

Genitourinary Internal Genitalia Female:
vagina present or absent (in 46,xy individuals)
vaginal septum (rare, in 46,xy individuals)
urogenital sinus (in 46,xy individuals)
absent uterus (in 46,xy individuals)
uterus didelphys (rare, in 46,xy individuals)
more
Laboratory Abnormalities:
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
low or low-normal testosterone
low anti-mullerian hormone (amh)

Clinical features from OMIM®:

273250 (Updated 20-May-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 11

Drugs for 46,xy Sex Reversal 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etravirine Approved Phase 4 269055-15-4 193962
2
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
3
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
4 Anti-Infective Agents Phase 4
5 Reverse Transcriptase Inhibitors Phase 4
6 Anti-Retroviral Agents Phase 4
7 Antiviral Agents Phase 4
8 Anti-HIV Agents Phase 4
9 HIV Protease Inhibitors Phase 4
10
protease inhibitors Phase 4
11 Cytochrome P-450 CYP3A Inhibitors Phase 4
12 Cytochrome P-450 Enzyme Inhibitors Phase 4
13
Rilpivirine Approved Phase 3 500287-72-9 6451164
14
tannic acid Approved Phase 3 1401-55-4
15
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
16
Lopinavir Approved Phase 3 192725-17-0 92727
17
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
18
Saquinavir Approved, Investigational Phase 3 127779-20-8 60787
19
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
20
Dolutegravir Approved Phase 3 1051375-16-6 54726191
21
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
22
Fosamprenavir Approved Phase 3 226700-79-4 131536
23
Cobicistat Approved Phase 3 1004316-88-4
24
Nevirapine Approved Phase 3 129618-40-2 4463
25
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
26
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
27 Atazanavir Sulfate Phase 3
28 Raltegravir Potassium Phase 3
29 HIV Integrase Inhibitors Phase 3
30 Genvoya Phase 3
31 Integrase Inhibitors Phase 3
32
Enfuvirtide Approved, Investigational Phase 2 159519-65-0 16130199
33
Lumefantrine Approved Phase 1 82186-77-4 6437380
34
Artemether Approved Phase 1 71963-77-4 119380 9796294 68911
35 Antiparasitic Agents Phase 1
36 Artemether, Lumefantrine Drug Combination Phase 1
37 Antiprotozoal Agents Phase 1
38 Antimalarials Phase 1

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Etravirine (ETR) in Combination With Other Antiretrovirals (ARVs) in Antiretroviral Treatment-Experienced HIV-1 Infected Subjects Completed NCT01422330 Phase 4 Etravirine
2 CID 0821 - Pilot Study to Evaluate HIV Viremia and Persistence in Acutely HIV-Infected Antiretroviral Naïve Patients Treated With Darunavir/Ritonavir and Etravirine Terminated NCT00855413 Phase 4 Darunavir;Ritonavir;Etravirine
3 A Phase 3b, Randomized, Open-Label Study to Evaluate the Safety and Efficacy of Switching From Regimens Consisting of Abacavir/Lamivudine (ABC/3TC) Plus a Third Antiretroviral Agent to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (E/C/F/TAF) Fixed-Dose Combination (FDC) in Virologically-Suppressed HIV 1 Infected Adult Subjects Completed NCT02605954 Phase 3 E/C/F/TAF;ABC/3TC;Third Antiretroviral Agent
4 A Phase 3b, Randomized, Open-Label Study to Evaluate Switching From a Tenofovir Disoproxil Fumarate (TDF) Containing Regimen to Elvitegravir/Cobicistat/Emtricitabine/ Tenofovir Alafenamide (E/C/F/TAF) Fixed-Dose Combination (FDC) in Virologically-Suppressed, HIV-1 Infected Subjects Aged ≥ 60 Years Completed NCT02616783 Phase 3 E/C/F/TAF;TDF;FTC;FTC/TDF;3TC;Third agent
5 Continued Access to Etravirine (ETR) in Treatment Experienced HIV-1 Infected Subjects Active, not recruiting NCT00980538 Phase 3 Etravirine
6 An Open-Label Trial With TMC125 in HIV-1 Infected Subjects, Who Were Randomized to a TMC125 Treatment Arm in a Sponsor-Selected TMC125 Trial and Were Treated for at Least 48 Weeks Completed NCT00128830 Phase 2 Etravirine (ETR);Nucleotide reverse transcriptase inhibitors (NRTIs);Protease inhibitors (PIs);Enfuvirtide (ENF)
7 TMC125-TiDP2-C238: A Randomized, Exploratory, Open-label 48-week Trial to Investigate the Pharmacokinetics, Safety, Tolerability and Antiviral Activity of Etravirine (ETR) in Combination With Ritonavir-boosted Atazanavir (ATV/Rtv) and 1 NRTI in Treatment-experienced HIV-1 Infected Subjects Completed NCT00896051 Phase 2 Atazanavir (ATV) 300 mg;Atazanavir (ATV) 400 mg;Ritonavir (rtv) 100 mg;Nucleo(side)/(tide) reverse transcriptase inhibitors (NRTIs);Etravirine (ETR) 200 mg;Tenofovir disoproxil fumarate (TDF) 300 mg
8 A Phase I/II, Open-Label Trial to Evaluate the Safety, Tolerability, Pharmacokinetics and Antiviral Activity of Etravirine (ETR) in Antiretroviral (ARV) Treatment-Experienced HIV-1 Infected Infants and Children, Aged ≥ 2 Months to < 6 Years Completed NCT01504841 Phase 1, Phase 2 Etravirine (ETR)
9 A Phase IIb, Multi-centre, Randomised, Double-blind, Active-controlled Trial Comparing the Neuropsychiatric Adverse Event Profile of Etravirine 400mg qd Versus Efavirenz 600mg qd in Combination With 2 Nucleoside/Nucleotide Reverse Transcriptase Inhibitors in ARV Therapy-naive HIV-1 Infected Subjects Completed NCT00903682 Phase 2 etravirine (ETR, TMC125);efavirenz (EFV)
10 Dual Therapy Combining Raltegravir With Etravirine Maintains a High Level of Viral Suppression Over 96 Weeks in Long-term Experienced HIV-infected Individuals Over 45 Years on a PI-based Regimen: Results From the Phase II ANRS 163 ETRAL Study Completed NCT02212379 Phase 2 raltegravir and etravirine
11 A Phase I, Open Label, Randomized, 2-Panel, 2-Way Crossover Trial to Investigate the Pharmacokinetic Interaction Between Etravirine or TMC278 and Telaprevir at Steady-State in Healthy Subjects. Completed NCT01336829 Phase 1 ETR/telaprevir;TMC278/telaprevir;telaprevir/ETR;telaprevir/TMC278
12 A Study to Survey the Swallowability of Uncoated 200-mg Tablets of Etravirine in HIV-1 Infected Subjects Completed NCT01090648 Phase 1 etravirine
13 A Phase I, Partially Randomized, Open Label, Two-way, Two Period Cross-over Study to Investigate the Pharmacokinetic Interaction Between Etravirine or Darunavir/Rtv and Artemether/Lumefantrine at Steady-state in Healthy HIV-negative Subjects Completed NCT01876966 Phase 1 Etravirine;Darunavir/ritonavir;artemether/lumefantrine
14 Open-Label, Single-Sequence Study to Evaluate the Pharmacokinetic Interaction of BMS-663068 With Darunavir/Ritonavir and/or Etravirine in Healthy Subjects Completed NCT02063360 Phase 1 BMS-663068;Darunavir (DRV);Ritonavir (RTV);Etravirine (ETR)
15 Open-Label, Single-Sequence Study to Evaluate the Effects of Darunavir/Ritonavir and/or Etravirine on the Pharmacokinetics of GSK3640254 and the Effects of GSK3640254 on the Pharmacokinetics of Darunavir/Ritonavir and/or Etravirine in Heathy Adults Recruiting NCT04630002 Phase 1 GSK3640254;Darunavir/Ritonavir (DRV/RTV);Etravirine (ETR)
16 Antiretroviral Drug Concentrations and HIV Viral Load in Breast Milk and Plasma in HIV+ Women Receiving HAART (Highly Active Antiretroviral Therapy) Therapy: Etravirine (ETR) Pharmacokinetics (PK) in Breast Milk and Plasma Completed NCT01625169 Etravirine pharmacokinetics in breast milk and plasma
17 Effect of Early vs. Late Eating on Body Composition in Young Adults Not yet recruiting NCT04679155

Search NIH Clinical Center for 46,xy Sex Reversal 11

Genetic Tests for 46,xy Sex Reversal 11

Anatomical Context for 46,xy Sex Reversal 11

MalaCards organs/tissues related to 46,xy Sex Reversal 11:

40
Testis, Uterus, Testes, Bone, Breast, Heart, Skin

Publications for 46,xy Sex Reversal 11

Articles related to 46,xy Sex Reversal 11:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. 57 6 61
31337883 2020
2
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. 57 6 61
31287541 2019
3
Embryonic testicular regression syndrome and severe mental retardation in sibs. 57 61
3879148 1985
4
Embryonic testicular regression syndrome: variable phenotypic expression in siblings. 61 57
7400886 1980
5
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. 57
31745530 2019
6
Postnatal testicular regression mircopenis and microcephaly: conformation of a new syndrome? 57
19288550 2009
7
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome? 57
11992480 2002
8
Testicular regression in a patient with virilized female phenotype. 57
6437223 1984
9
Gonadal agenesis in a phenotypically normal female with positive H-Y antigen. 57
7239525 1981
10
Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. 57
834405 1977
11
Familial congenital anorchia. 57
239779 1975
12
The XY gonadal agenesis syndrome. 57
4774539 1973
13
The vanishing testis. 57
4186283 1969
14
Congenital absence of hypoplasia of the endocrine glands. 57
4918329 1969
15
The bell-clapper deformity of the testis: The definitive pathological anatomy. 61
32762939 2020
16
Severe Degenerative Changes in Cryptorchid Testes in Japanese Black Cattle. 61
32096446 2020
17
TESTICULAR REGRESSION SYNDROME: PRACTICE VARIATION IN DIAGNOSIS AND MANAGEMENT. 61
31013155 2019
18
Testicular Regression Syndrome and Severe Psychiatric Disorder – a Rare Association Preventing the Optimal Management of the Endocrine Condition. 61
30774733 2018
19
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. 61
29353265 2018
20
Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review. 61
29124402 2018
21
Re: Is Routine Excision of Testicular Remnants in Testicular Regression Syndrome Indicated? 61
27979565 2017
22
Response to letter to the editor re 'Is routine excision of testicular remnants in testicular regression syndrome indicated?' 61
27570094 2016
23
Re: Nataraja RM Asher CM, Nash R, Murphy FL. Is routine excision of testicular remnants in testicular regression syndrome indicated? J Pediatr Urol 2015;11:151.e1-5. 61
27567374 2016
24
Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development. 61
27079915 2016
25
Is routine excision of testicular remnants in testicular regression syndrome indicated? 61
25913475 2015
26
The investigation of quality of life in 87 Chinese patients with disorders of sex development. 61
26075230 2015
27
Vanishing testis syndrome: report of two cases. 61
25302234 2014
28
[Embryonic testicular regression syndrome: report of 6 cases]. 61
25489355 2014
29
Testicular Regression Syndrome: a case report. 61
31528590 2012
30
Vanishing testes: a literature review. 61
22985611 2012
31
The testicular regression syndrome--do remnants require routine excision? 61
21292092 2011
32
A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies. 61
19617372 2009
33
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. 61
17940071 2007
34
[Diagnostic value of the gonadal biopsy in the disorders of sex development]. 61
18257373 2007
35
[Prenatal diagnosis of two pregnancies with risk of chromosomal disorders]. 61
17725307 2007
36
Natural history of testicular regression syndrome and consequences for clinical management. 61
18947736 2007
37
[Vanishing testis syndrome and testicular regression syndrome]. 61
16817480 2006
38
Histopathological features of testicular regression syndrome: relation to patient age and implications for management. 61
16908461 2006
39
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). 61
17312771 2005
40
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. 54
16106197 2005
41
Testicular regression syndrome: a clinical and pathologic study of 11 cases. 61
10782149 2000
42
Embryonic testicular regression syndrome: a case report. 61
10443101 1999
43
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 61
9521592 1998
44
A case of homosexual murder: a victim with testicular regression syndrome. 61
9436369 1997
45
A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs. 61
9363668 1997
46
Ante-natal testicular torsion: only one cause of the testicular regression syndrome? 61
8632401 1996
47
[Testicular regression syndrome]. 61
7757776 1993
48
[Unilateral anorchidism or monorchidism]. 61
1341289 1992
49
Testicular regression syndrome--a pathological study of 77 cases. 61
1916702 1991
50
Testicular regression syndrome. A case report. 61
1941794 1991

Variations for 46,xy Sex Reversal 11

ClinVar genetic disease variations for 46,xy Sex Reversal 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHX37 NM_032656.4(DHX37):c.911C>T (p.Thr304Met) SNV Pathogenic 869419 GRCh37: 12:125460034-125460034
GRCh38: 12:124975488-124975488
2 DHX37 NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) SNV Pathogenic 869420 GRCh37: 12:125460022-125460022
GRCh38: 12:124975476-124975476
3 DHX37 NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) SNV Pathogenic 869421 GRCh37: 12:125448965-125448965
GRCh38: 12:124964419-124964419
4 DHX37 NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) SNV Pathogenic 869422 GRCh37: 12:125449504-125449504
GRCh38: 12:124964958-124964958
5 DHX37 NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) SNV Pathogenic 869423 GRCh37: 12:125448964-125448964
GRCh38: 12:124964418-124964418

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 11:

72
# Symbol AA change Variation ID SNP ID
1 DHX37 p.Thr304Met VAR_083630
2 DHX37 p.Arg308Gln VAR_083631
3 DHX37 p.Ser595Phe VAR_083638
4 DHX37 p.Arg674Gln VAR_083640
5 DHX37 p.Arg674Trp VAR_083641

Expression for 46,xy Sex Reversal 11

Search GEO for disease gene expression data for 46,xy Sex Reversal 11.

Pathways for 46,xy Sex Reversal 11

GO Terms for 46,xy Sex Reversal 11

Biological processes related to 46,xy Sex Reversal 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of male gonad development GO:2000020 8.62 SRY DHX37

Sources for 46,xy Sex Reversal 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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