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PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Constitutional mismatch repair deficiency syndrome

HSD17B3 MLH1
MSH2
MSH6
PMS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSD17B3
(0.63)
MLH1



Citations in the biomedical literature:


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
HSD17B3
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 17-ketoreductase deficiency
- 17-ketosteroidreductase deficiency
- Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Synonym(s):
- CMMR-D syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Very frequent
- Ambiguous genitalia
- Autosomal recessive inheritance
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Sterility / hypofertility
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Hypothyroidy


Constitutional mismatch repair deficiency syndrome

(no data available)