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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
12 signs/symptoms
Pilomatrixoma
Juvenile amyotrophic lateral sclerosis

CTNNB1 ALS2
FUS
SIGMAR1
SPG11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.72)
FUS



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11



Pilomatrixoma
Juvenile amyotrophic lateral sclerosis

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

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

External references:
1 OMIM reference -
1 MeSH reference: D018296
External references:
3 OMIM references -
No MeSH references

Juvenile amyotrophic lateral sclerosis

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Pyramidal syndrome

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pseudobulbar signs / spasmodic laugh and cry

Occasional
- Bladder and ureter anomalies
- Sensitive trouble / deficit


Pilomatrixoma

(no data available)