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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 3
1 OMIM reference -
3 associated genes
60 signs/symptoms
46,XY partial gonadal dysgenesis
Distal 22q11.2 microdeletion syndrome

GATA4 BCR
MAP3K1 CRKL
NR0B1 MAPK1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
GATA4
NR5A1
(0.91)
(0.65)
(0.52)
MAPK1
MAPK1
MAPK1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1



46,XY partial gonadal dysgenesis
Distal 22q11.2 microdeletion syndrome

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

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2

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 developmental defect during embryogenesis
- Rare genetic 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:
(no data available)

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

46,XY partial gonadal dysgenesis
Distal 22q11.2 microdeletion syndrome

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
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes