Cytoscape Web
Click node...


2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Alternating hemiplegia of childhood
Hereditary neuropathy with liability to pressure palsies

ATP1A2 PMP22
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A2
(0.63)
PMP22



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Hereditary neuropathy with liability to pressure palsies
PMP22



Alternating hemiplegia of childhood
Hereditary neuropathy with liability to pressure palsies

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
- Current pressure-sensitive neuropathy
- HNPP
- Heterozygous microdeletion 17p11.2p12
- Potato-grubbing palsy
- Tomaculous neuropathy
- Tulip-bulb digger's palsy

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
No MeSH references

Hereditary neuropathy with liability to pressure palsies

Very frequent
- Autosomal dominant inheritance
- Insterstitial / subtelomeric microdeletion / deletion
- Nerve conduction abnormality
- Peripheral neuropathy

Frequent
- Motor deficit / trouble
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Scoliosis

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Areflexia / hyporeflexia
- Cranial nerves palsy
- Flat palm
- Pes cavus
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Alternating hemiplegia of childhood

(no data available)