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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
55 signs/symptoms
46,XY partial gonadal dysgenesis
Kabuki syndrome

GATA4 KDM6A
MAP3K1 KMT2D
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
(0.63)
KDM6A



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Kabuki syndrome
KDM6A KMT2D



46,XY partial gonadal dysgenesis
Kabuki syndrome

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

Synonym(s):
- Kabuki make-up syndrome
- Niikawa-Kuroki 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 abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537705


COMMON
SIGNS
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis


46,XY partial gonadal dysgenesis
Kabuki syndrome

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- 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
- Abnormal dermatoglyphics
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Ectropion / entropion / eyelid eversion
- High arched eyebrows
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lateral thinning of eyebrows
- Long / large ear
- Long / thick / curved lashes / trichomegaly / polytrichia
- Prominent / bat ears
- Short columella / depressed nasal tip
- Short hand / brachydactyly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- Blue sclerae
- Cardiac septal defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete / partial microdontia
- Conductive deafness / hearing loss
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Microcephaly
- Ptosis
- Scoliosis
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Strabismus / squint
- Tooth shape anomaly

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Diaphragmatic hernia / defect / agenesis
- Ectopic / horseshoe / fused kidneys
- EEG anomalies
- Expressionless face / amimia
- Generalized obesity
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Lip pits / fistulae
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcornea
- Nystagmus
- Preauricular / branchial tags / appendages
- Precocious puberty
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Small hand / acromicria
- Undescended / ectopic testes / cryptorchidia / unfixed testes