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1 OMIM reference -
1 associated gene
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

Leprechaunism

Limited cutaneous systemic sclerosis

INSR	(UniProt - OMIM)		CAV1	(UniProt - OMIM)
			CCR6	(UniProt - OMIM)
			CTGF	(UniProt - OMIM)
			HLA-DRB1	(UniProt - OMIM)
			IRF5	(UniProt - OMIM)
			KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INSR	(0.73)	CAV1

Citations in the biomedical literature:

Leprechaunism		Limited cutaneous systemic sclerosis
	Synonym(s): - Donohue syndrome		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

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

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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


COMMON SIGNS	- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia

Leprechaunism		Limited cutaneous systemic sclerosis
	Very frequent - Anomalies of ear and hearing - Autosomal recessive inheritance - 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 - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - 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 - 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 pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension