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3 OMIM references -
4 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
19 signs/symptoms
Juvenile amyotrophic lateral sclerosis
Desmoplastic small round cell tumor

ALS2 EWSR1
FUS WT1
SIGMAR1
SPG11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FUS
(0.78)
EWSR1



Citations in the biomedical literature:


Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11
Desmoplastic small round cell tumor
EWSR1 WT1



Juvenile amyotrophic lateral sclerosis
Desmoplastic small round cell tumor

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

Synonym(s):
- DSRCT

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare oncologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: sporadic

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D058405

Juvenile amyotrophic lateral sclerosis
Desmoplastic small round cell tumor

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


Very frequent
- Acute abdominal pain / colic
- Digestive neoplasm / tumor / carcinoma / cancer
- Lymphadenopathy / polyadenopathies
- Peritoneal diseases
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Frequent
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intestinal obstruction / ileus
- Mediastinal / hilar adenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Anaemia
- Ascitis
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Testis anomalies
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy