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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
10 associated genes
No signs/symptoms info
Desmoid tumor
Leber hereditary optic neuropathy

APC MT-ATP6
CTNNB1 MT-CO1
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
MT-ND4



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Leber hereditary optic neuropathy
MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
MT-ND4 MT-ND4L MT-ND5 MT-ND6



Desmoid tumor
Leber hereditary optic neuropathy

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

Synonym(s):
- LHON
- Leber optic atrophy

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: mitochondrial inheritance

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

Desmoid tumor

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


Leber hereditary optic neuropathy

(no data available)