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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
APC-related attenuated familial adenomatous polyposis
LOC syndrome

APC LAMA3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
LAMA3



Citations in the biomedical literature:


APC-related attenuated familial adenomatous polyposis
APC
LOC syndrome
LAMA3



APC-related attenuated familial adenomatous polyposis
LOC syndrome

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

Synonym(s):
- LOGIC syndrome
- Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
- Laryngo-onycho-cutaneous syndrome
- Shabbir syndrome

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare respiratory disease
- Rare skin 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: autosomal recessive

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

LOC syndrome

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal fingernails
- Abnormal pigmentation of the oral mucosa / gingivae
- Abnormal toenails
- Absent / small fingernails / anonychia of hands
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Corneal clouding / opacity / vascularisation
- Death in infancy
- Enamel anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction



APC-related attenuated familial adenomatous polyposis

(no data available)