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

HNRNPA1 TP63
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.72)
TP63



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
ADULT syndrome
TP63



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ADULT syndrome

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

Synonym(s):
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Pigment anomaly - ectrodactyly - hypodontia

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

Classification (ICD10):
- Diseases of the nervous system -
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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538052

ADULT syndrome

Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dry / squaly skin / exfoliation
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Excessive freckling
- Fine hair
- Nails anomalies
- Oligodactyly / ectrodactyly of toes
- Pigmented naevi / naevus pigmentosus / lentigo
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thin skin

Frequent
- Alopecia
- Breast tissue / mammary gland absence / aplasia
- Hypoplastic / absent nipples
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Tooth shape anomaly

Occasional
- Broad nose / nasal bridge
- Face / facial anomalies
- High nasal bridge


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)