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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
11 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Idiopathic pulmonary fibrosis

GATA4 ATP11A
MAP3K1 DPP9
NR0B1 DSP
NR5A1 FAM13A
SRY MUC5B
WT1 OBFC1
WWOX SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
WWOX
(0.63)
(0.63)
DSP
TERC



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT



46,XY partial gonadal dysgenesis
Idiopathic pulmonary fibrosis

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- UIP
- Usual interstitial pneumonia

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 respiratory disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the respiratory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054990

46,XY partial gonadal dysgenesis

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Idiopathic pulmonary fibrosis

(no data available)