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Juvenile amyotrophic lateral sclerosis

3 OMIM references -
4 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Juvenile amyotrophic lateral sclerosis

Rabson-Mendenhall syndrome

ALS2	(UniProt - OMIM)		INSR	(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)	INSR

Citations in the biomedical literature:

Juvenile amyotrophic lateral sclerosis		Rabson-Mendenhall 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 endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056731

Juvenile amyotrophic lateral sclerosis		Rabson-Mendenhall 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 - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome