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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
13 signs/symptoms
Hereditary motor and sensory neuropathy, Okinawa type
Monomelic amyotrophy

TFG C5ORF42
KIAA1377


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TFG
(0.63)
KIAA1377



Citations in the biomedical literature:


Hereditary motor and sensory neuropathy, Okinawa type
TFG
Monomelic amyotrophy
C5ORF42 KIAA1377



Hereditary motor and sensory neuropathy, Okinawa type
Monomelic amyotrophy

Synonym(s):
- HMSNP
- Hereditary motor and sensory neuropathy, proximal type

Synonym(s):
- Benign focal amyotrophy
- Hirayama disease
- JMADUE
- Juvenile muscular atrophy of distal upper extremity
- Juvenile muscular atrophy of the distal upper limb

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
1 MeSH reference: C535717
External references:
1 OMIM reference -
1 MeSH reference: C538253

Monomelic amyotrophy

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb segmental anomalies

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Nerve conduction abnormality

Occasional
- Anomalies of the immunitary system
- Movement disorder
- Myoclonus / fasciculations
- Tremor


Hereditary motor and sensory neuropathy, Okinawa type

(no data available)