45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.



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Total: 1 (papers)

  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(4.0%)
20637459
Atypical presentation and management dilemma of mixed gonadal dysgenesis.
McKnight KK, Bates GW Jr.
Fertil Steril. 2011;95(1):291.e7-9.
Gonadal dysgenesis
Antineoplastic Agents Dysgerminoma Females Gonadal Dysgenesis, Mixed Gonadoblastoma Homo sapiens Lung Neoplasms Refusal of Treatment
        

Phenotype(s) retrieved from Orphanet

    Total: 61

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008968 Muscle hypertrophy of the lower extremities Very frequent (99-80%)
HP:0012741 Unilateral cryptorchidism Very frequent (99-80%)
HP:0000027 Azoospermia Frequent (79-30%)
HP:0000033 Ambiguous genitalia, male Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0000061 Ambiguous genitalia, female Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000808 Penoscrotal hypospadias Frequent (79-30%)
HP:0000812 Abnormal internal genitalia Frequent (79-30%)
HP:0000837 Increased circulating gonadotropin level Frequent (79-30%)
HP:0003251 Male infertility Frequent (79-30%)
HP:0008689 Bilateral cryptorchidism Frequent (79-30%)
HP:0100779 Urogenital sinus anomaly Frequent (79-30%)
HP:0000039 Epispadias Occasional (29-5%)
HP:0000041 Chordee Occasional (29-5%)
HP:0000045 Abnormality of the scrotum Occasional (29-5%)
HP:0000048 Bifid scrotum Occasional (29-5%)
HP:0000077 Abnormality of the kidney Occasional (29-5%)
HP:0000085 Horseshoe kidney Occasional (29-5%)
HP:0000150 Gonadoblastoma Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000403 Recurrent otitis media Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000505 Visual impairment Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000729 Autistic behavior Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000771 Gynecomastia Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001087 Developmental glaucoma Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001647 Bicuspid aortic valve Occasional (29-5%)
HP:0001649 Tachycardia Occasional (29-5%)
HP:0001657 Prolonged QT interval Occasional (29-5%)
HP:0001680 Coarctation of aorta Occasional (29-5%)
HP:0001822 Hallux valgus Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0002164 Nail dysplasia Occasional (29-5%)
HP:0002442 Dyscalculia Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0002967 Cubitus valgus Occasional (29-5%)
HP:0006610 Wide intermamillary distance Occasional (29-5%)
HP:0010044 Short 4th metacarpal Occasional (29-5%)
HP:0010464 Streak ovary Occasional (29-5%)
HP:0010743 Short metatarsal Occasional (29-5%)
HP:0012861 Ovotestis Occasional (29-5%)
HP:0012887 Ovarian serous cystadenoma Occasional (29-5%)
HP:0030079 Cervix cancer Occasional (29-5%)
HP:0030680 Abnormality of cardiovascular system morphology Occasional (29-5%)
HP:0040171 Decreased serum testosterone level Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SRY sex determining region Y 6736