ODCs

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Leprechaunism

1 OMIM reference -
1 associated gene
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Juvenile amyotrophic lateral sclerosis

3 OMIM references -
4 associated genes
12 signs/symptoms

Leprechaunism

Juvenile amyotrophic lateral sclerosis

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


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

Citations in the biomedical literature:

Leprechaunism		Juvenile amyotrophic lateral sclerosis
	Synonym(s): - Donohue syndrome		Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Leprechaunism		Juvenile amyotrophic lateral sclerosis
	Very frequent - Anomalies of ear and hearing - Diabetes mellitus - Excess nuchal skin without pterygium colli - Facial dysmorphism - Failure to thrive / difficulties for feeding in infancy / growth delay - Flared / thick ala nasi - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Hypertelorism - Hypoglycemia - Insulin-independent / type 2 diabetes - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Long / large ear - Low set ears / posteriorly rotated ears - Macropenis / megapenis / large penis - Proptosis / exophthalmos - Repeat respiratory infections - Short stature / dwarfism / nanism - Thick lips - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Frequent - Delayed bone age - Depressed nasal bridge - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Female pseudohermaphrodism / virilisation / clitoridomegaly - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hepatitis / icterus / cholestasis - Hirsutism / hypertrichosis / Increased body hair - Immunodeficiency / increased susceptibility to infections / recurrent infections - Inguinal / inguinoscrotal / crural hernia - Lipoatrophy - Umbilical hernia Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Microcephaly - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Elocution disorders / dysarthria / dysphonia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Pyramidal syndrome Frequent - Pseudobulbar signs / spasmodic laugh and cry Occasional - Bladder and ureter anomalies - Sensitive trouble / deficit