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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Dyschromatosis symmetrica hereditaria
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ADAR HNRNPA1
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADAR
(0.63)
HNRNPA1



Citations in the biomedical literature:


Dyschromatosis symmetrica hereditaria
ADAR
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Dyschromatosis symmetrica hereditaria
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- Acropigmentation of Dohi

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535729
External references:
3 OMIM references -
No MeSH references

Dyschromatosis symmetrica hereditaria

Very frequent
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

Frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)