ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
32 signs/symptoms

Familial adenomatous polyposis due to 5q22.2 microdeletion

2q23.1 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APC	(0.63)	MBD5

Citations in the biomedical literature:

Familial adenomatous polyposis due to 5q22.2 microdeletion		2q23.1 microdeletion syndrome
	Synonym(s): - Colorectal adenomatous polyposis due to monosomy 5q22.2 - FAP due to monosomy 5q22.2 - Familial adenomatous polyposis due to del(5)(q22.2) - Familial adenomatous polyposis due to monosomy 5q22.2 - Familial polyposis coli due to monosomy 5q22.2		Synonym(s): - Del(2)(q23.1) - Monosomy 2q23.1 - Pseudo-Angelman syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

2q23.1 microdeletion syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tics / stereotypias Frequent - Ataxia / incoordination / trouble of the equilibrium - Auto-aggressivity / auto-mutilation - Brachycephaly / flat occiput - Broad forehead - Bulimia / hyperphagia - Clinodactyly of fifth finger - Coarse face - Constipation - Everted lower lip - Failure to thrive / difficulties for feeding in infancy / growth delay - High arched eyebrows - Hirsutism / hypertrichosis / Increased body hair - Hypotonia - Microcephaly - Mid-facial hypoplasia / short / small midface - Mouth held open - Pseudobulbar signs / spasmodic laugh and cry - Short hand / brachydactyly - Short stature / dwarfism / nanism - Sleep and vigilance disorders - Synophris / synophrys - Tented upper lip - Wide space between 1st-2nd toes Occasional - Complete / partial macrodontia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Micropenis / small penis / agenesis - Undescended / ectopic testes / cryptorchidia / unfixed testes
Familial adenomatous polyposis due to 5q22.2 microdeletion
(no data available)