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Acute myeloid leukemia with t(8;21)(q22;q22) translocation

5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Genitopatellar syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Genitopatellar syndrome

CEBPA	(UniProt - OMIM)	KAT6B	(UniProt - OMIM)
FLT3	(UniProt - OMIM)
KIT	(UniProt - OMIM)
RUNX1	(UniProt - OMIM)
RUNX1T1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RUNX1	(0.63)	KAT6B

Citations in the biomedical literature:

Acute myeloid leukemia with t(8;21)(q22;q22) translocation		Genitopatellar syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit

	Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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

Genitopatellar syndrome
	Very frequent - Arthrogryposis - Autosomal recessive inheritance - Broad nose / nasal bridge - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - High nasal bridge - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Patella absent / abnormal (excluding luxation) - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Polycystic kidneys - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Fine hair - Hypertelorism - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Long philtrum - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Talipes-valgus Occasional - Apnea / sleep apnea - Atrial septal defect / interauricular communication - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Insterstitial / subtelomeric microdeletion / deletion - Radioulnar synostosis - Short stature / dwarfism / nanism
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
(no data available)