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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
32 signs/symptoms
APC-related attenuated familial adenomatous polyposis
2q23.1 microdeletion syndrome

APC MBD5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


APC-related attenuated familial adenomatous polyposis
APC
2q23.1 microdeletion syndrome
MBD5



APC-related attenuated familial adenomatous polyposis
2q23.1 microdeletion syndrome

Synonym(s):
- APC-related AFAP
- APC-related attenuated FAP
- APC-related attenuated familial polyposis coli

Synonym(s):
- Del(2)(q23.1)
- Monosomy 2q23.1
- Pseudo-Angelman syndrome

Classification (Orphanet):
- 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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
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


APC-related attenuated familial adenomatous polyposis

(no data available)