Cytoscape Web
Click node...

46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Frontonasal dysplasia with alopecia and genital anomaly
1 OMIM reference -
1 associated gene
29 signs/symptoms
46,XY partial gonadal dysgenesis
Frontonasal dysplasia with alopecia and genital anomaly

GATA4
(UniProt - OMIM)
 ALX4
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)
WT1
(UniProt - OMIM)
WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GATA4
(0.63)
ALX4


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Frontonasal dysplasia with alopecia and genital anomaly
ALX4



46,XY partial gonadal dysgenesis
Frontonasal dysplasia with alopecia and genital anomaly

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- ALX4-related FNDAG
- Craniofrontonasal dysplasia with alopecia and hypogonadism
- Frontonasal dysplasia with alopecia and genital abnomality
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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY partial gonadal dysgenesis
Frontonasal dysplasia with alopecia and genital anomaly

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)


Very frequent
- Alopecia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Bifid skull
- Bifid tip / cleft nose / supernumerary nose
- Blepharophimosis / short palpebral fissures
- Brachycephaly / flat occiput
- Depressed nasal bridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Nystagmus
- Philtrum flat / large / featureless / absent cupidon bows
- Scalp / skull defect
- Strabismus / squint
- Telecanthus / canthal dystopy
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Fine hair
- Frontal bossing / prominent forehead
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Oligoamnios
- Tooth shape anomaly