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Carpenter-Waziri syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Monomelic amyotrophy
1 OMIM reference -
2 associated genes
13 signs/symptoms
Carpenter-Waziri syndrome
Monomelic amyotrophy

ATRX
(UniProt - OMIM)
 C5ORF42
(UniProt - OMIM)
KIAA1377
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATRX
(0.63)
KIAA1377


Citations in the biomedical literature:


Carpenter-Waziri syndrome
ATRX
Monomelic amyotrophy
C5ORF42 KIAA1377



Carpenter-Waziri syndrome
Monomelic amyotrophy

Synonym(s):
(no synonyms)

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
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 -
No MeSH references
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


Carpenter-Waziri syndrome

(no data available)