ODCs

Cytoscape Web

Click node...

1 OMIM reference -
1 associated gene
37 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 9

LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

Leprechaunism

LEOPARD syndrome

INSR	(UniProt - OMIM)		BRAF	(UniProt - OMIM)
			PTPN11	(UniProt - OMIM)
			RAF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INSR INSR	(0.89) (0.52)	PTPN11 RAF1

Citations in the biomedical literature:

Leprechaunism		LEOPARD syndrome
	Synonym(s): - Donohue syndrome		Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 2 MeSH references: C537116 / D044542


COMMON SIGNS	- Absent / hypotonic / flaccid abdominal wall muscles - Anomalies of ear and hearing - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Leprechaunism		LEOPARD syndrome
	Very frequent - Autosomal recessive inheritance - Diabetes mellitus - Excess nuchal skin without pterygium colli - Facial dysmorphism - Flared / thick ala nasi - High vaulted / narrow palate - Hyperinsulinism / hyperinsulinemia - Hypoglycemia - Insulin-independent / type 2 diabetes - Long / large ear - Macropenis / megapenis / large penis - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Proptosis / exophthalmos - Repeat respiratory infections - 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 - Microcephaly		Very frequent - Autosomal dominant inheritance - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Excessive freckling - Hyperelastic skin / cutaneous hyperlaxity - Myelodysplastic syndrome - Pigmented naevi / naevus pigmentosus / lentigo - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary valve atresia / stenosis / narrowing - Sensorineural deafness / hearing loss - Structural anomalies of the genital system Frequent - Atrioventricular canal - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Congenital cardiac anomaly / malformation / cardiopathy - Face / facial anomalies - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Sterility / hypofertility - Webbed neck / pterygium colli Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Angor pectoris / myocardial infarction - Arterial aneurism (excluding aorta) - Brachycephaly / flat occiput - Ectopic / horseshoe / fused kidneys - Endocardium anomalies / fibroelastosis / endocarditis - Hypospadias / epispadias / bent penis - Melanoma - Myeloproliferative syndrome / chronic leukemia - Neuroblastoma - Rippled skin - Scoliosis - Spina bifida occulta - Subcutaneous nodules / lipomas / tumefaction / swelling - Triangular face