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LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
40 signs/symptoms

LEOPARD syndrome

SHORT syndrome

BRAF	(UniProt - OMIM)		PIK3R1	(UniProt - OMIM)
PTPN11	(UniProt - OMIM)
RAF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.84)	PIK3R1

Citations in the biomedical literature:

LEOPARD syndrome		SHORT syndrome
	Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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 - 2 MeSH references: C537116 / D044542		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Autosomal dominant inheritance - Face / facial anomalies - Hypertelorism - Rippled skin - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Triangular face

LEOPARD syndrome		SHORT syndrome
	Very frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Excessive freckling - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperelastic skin / cutaneous hyperlaxity - Intrauterine growth retardation - Myelodysplastic syndrome - Pigmented naevi / naevus pigmentosus / lentigo - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary valve atresia / stenosis / narrowing - Structural anomalies of the genital system Frequent - Anomalies of ear and hearing - Atrioventricular canal - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Congenital cardiac anomaly / malformation / cardiopathy - Low set ears / posteriorly rotated ears - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Sterility / hypofertility - Undescended / ectopic testes / cryptorchidia / unfixed testes - Webbed neck / pterygium colli Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Absent / hypotonic / flaccid abdominal wall muscles - Angor pectoris / myocardial infarction - Arterial aneurism (excluding aorta) - Brachycephaly / flat occiput - Ectopic / horseshoe / fused kidneys - Endocardium anomalies / fibroelastosis / endocarditis - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Melanoma - Myeloproliferative syndrome / chronic leukemia - Neuroblastoma - Scoliosis - Spina bifida occulta - Subcutaneous nodules / lipomas / tumefaction / swelling		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad nasal root - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Prominent supraorbital ridge - Short hand / brachydactyly - Telecanthus / canthal dystopy - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic