MCID: 45X001
MIFTS: 20

45,x/46,xy Mixed Gonadal Dysgenesis malady

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

Aliases & Classifications for 45,x/46,xy Mixed Gonadal Dysgenesis

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 45,x/46,xy Mixed Gonadal Dysgenesis:

Name: 45,x/46,xy Mixed Gonadal Dysgenesis 52
45,x0/46,xy Mixed Gonadal Dysgenesis 52
 
45,x0/46,xy Mgd 52
45,x/46,xy Mgd 52

Characteristics:

Orphanet epidemiological data:

52
45,x0/46,xy mixed gonadal dysgenesis:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA1772
ICD10 via Orphanet29 Q98.7

Summaries for 45,x/46,xy Mixed Gonadal Dysgenesis

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MalaCards based summary: 45,x/46,xy Mixed Gonadal Dysgenesis, also known as 45,x0/46,xy mixed gonadal dysgenesis, is related to gonadal dysgenesis and mixed gonadal dysgenesis, and has symptoms including Array, Array and Array. An important gene associated with 45,x/46,xy Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y). Affiliated tissues include kidney, cervix and ovary.

Related Diseases for 45,x/46,xy Mixed Gonadal Dysgenesis

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Diseases in the Mixed Gonadal Dysgenesis family:

45,x/46,xy mixed gonadal dysgenesis

Diseases related to 45,x/46,xy Mixed Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis10.4
2mixed gonadal dysgenesis10.4

Symptoms for 45,x/46,xy Mixed Gonadal Dysgenesis

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Symptoms:

 52 (show all 61)
  • azoospermia
  • cryptorchidism
  • ambiguous genitalia, male
  • epispadias
  • chordee
  • abnormality of the scrotum
  • hypospadias
  • bifid scrotum
  • micropenis
  • ambiguous genitalia, female
  • ambiguous genitalia
  • abnormality of the kidney
  • horseshoe kidney
  • gonadoblastoma
  • high palate
  • epicanthus
  • micrognathia
  • hearing impairment
  • low-set, posteriorly rotated ears
  • recurrent otitis media
  • webbed neck
  • visual impairment
  • nystagmus
  • autistic behavior
  • pectus excavatum
  • gynecomastia
  • wide intermamillary distance
  • penoscrotal hypospadias
  • abnormal internal genitalia
  • hypothyroidism
  • delayed puberty
  • gonadotropin excess
  • delayed skeletal maturation
  • congenital glaucoma
  • intellectual disability, mild
  • short stature
  • obesity
  • bicuspid aortic valve
  • tachycardia
  • prolonged qt interval
  • coarctation of aorta
  • hallux valgus
  • low posterior hairline
  • nail dysplasia
  • dyscalculia
  • malformation of the heart and great vessels
  • scoliosis
  • cubitus valgus
  • short metatarsal
  • male infertility
  • short 4th metacarpal
  • bilateral cryptorchidism
  • muscle hypertrophy of the lower extremities
  • streak ovary
  • cervix cancer
  • unilateral cryptorchidism
  • ovotestis
  • ovarian serous cystadenoma
  • abnormality of cardiovascular system morphology
  • decreased serum testosterone level
  • urogenital sinus anomaly

Drugs & Therapeutics for 45,x/46,xy Mixed Gonadal Dysgenesis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 45,x/46,xy Mixed Gonadal Dysgenesis

Genetic Tests for 45,x/46,xy Mixed Gonadal Dysgenesis

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Anatomical Context for 45,x/46,xy Mixed Gonadal Dysgenesis

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MalaCards organs/tissues related to 45,x/46,xy Mixed Gonadal Dysgenesis:

34
Kidney, Cervix, Ovary, Heart

Animal Models for 45,x/46,xy Mixed Gonadal Dysgenesis or affiliated genes

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Publications for 45,x/46,xy Mixed Gonadal Dysgenesis

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Articles related to 45,x/46,xy Mixed Gonadal Dysgenesis:

idTitleAuthorsYear
1
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. (24554973)
2014
2
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. (19085701)
2009
3
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. (14699624)
2004

Variations for 45,x/46,xy Mixed Gonadal Dysgenesis

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Expression for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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Search GEO for disease gene expression data for 45,x/46,xy Mixed Gonadal Dysgenesis.

Pathways for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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GO Terms for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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Sources for 45,x/46,xy Mixed Gonadal Dysgenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet