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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
10 associated genes
No signs/symptoms info
Generalized juvenile polyposis/juvenile polyposis coli
Leber hereditary optic neuropathy

BMPR1A MT-ATP6
ENG MT-CO1
SMAD4 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)
SMAD4
SMAD4
(0.63)
(0.63)
MT-ND1
MT-ND4



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Leber hereditary optic neuropathy
MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
MT-ND4 MT-ND4L MT-ND5 MT-ND6



Generalized juvenile polyposis/juvenile polyposis coli
Leber hereditary optic neuropathy

Synonym(s):
(no synonyms)

Synonym(s):
- LHON
- Leber optic atrophy

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- 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: variable
Average age of death: -
Type of inheritance: autosomal dominant
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

No signs/symptoms info available.