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Juvenile amyotrophic lateral sclerosis

3 OMIM references -
4 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Pitt-Hopkins syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Juvenile amyotrophic lateral sclerosis

Pitt-Hopkins syndrome

ALS2	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
FUS	(UniProt - OMIM)
SIGMAR1	(UniProt - OMIM)
SPG11	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUS	(0.63)	TCF4

Citations in the biomedical literature:

Juvenile amyotrophic lateral sclerosis		Pitt-Hopkins syndrome
	Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537403

Juvenile amyotrophic lateral sclerosis		Pitt-Hopkins syndrome
	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 - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anteverted nares / nostrils - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Constipation - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Helix thickened / sculpted - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrostomia / big mouth - Microcephaly - Palate anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thick lips Frequent - Apnea / sleep apnea - Myopia - Respiratory rhythm disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Tapered fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Irregular / patchy skin hypopigmentation - Micropenis / small penis / agenesis