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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
15 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary sensory and autonomic neuropathy type 2

APP FAM134B
KIF1A
SCN9A
WNK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
FAM134B



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Hereditary sensory and autonomic neuropathy type 2
FAM134B KIF1A SCN9A WNK1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary sensory and autonomic neuropathy type 2

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Autosomal recessive sensory radicular neuropathy
- HSAN2
- Neurogenic acroosteolysis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary sensory and autonomic neuropathy type 2

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Ankle anomalies
- Autosomal recessive inheritance
- Cortical anomaly / thick bone cortical layer
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Epiphyseal anomaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperhidrosis / increased sweating
- Knee anomalies (excluding patella)
- Lordosis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Tapered fingers
- Wormian bones