Cytoscape Web
Click node...

LOC syndrome
1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
LOC syndrome
Desmoid tumor

LAMA3
(UniProt - OMIM)
 APC
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)

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


Citations in the biomedical literature:


LOC syndrome
LAMA3
Desmoid tumor
APC CTNNB1



LOC syndrome
Desmoid tumor

Synonym(s):
- LOGIC syndrome
- Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
- Laryngo-onycho-cutaneous syndrome
- Shabbir syndrome
Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare respiratory disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
LOC syndrome
Desmoid tumor

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



Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain