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LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 4

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

LEOPARD syndrome

Linear nevus sebaceus syndrome

BRAF	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
PTPN11	(UniProt - OMIM)		KRAS	(UniProt - OMIM)
RAF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAF1 RAF1 BRAF	(0.99) (0.99) (0.78)	HRAS KRAS HRAS

Citations in the biomedical literature:

LEOPARD syndrome		Linear nevus sebaceus syndrome
	Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome		Synonym(s): - Nevus sebaceus of Jadassohn - Nevus sebaceus syndrome - Organoid nevus syndrome - Schimmelpenning syndrome - Solomon syndrome

	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 eye disease - Rare genetic disease - Rare oncologic disease - Rare skin 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: unknown Average age onset: childhood Average age of death: any age Type of inheritance: sporadic

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


COMMON SIGNS	- Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Pigmented naevi / naevus pigmentosus / lentigo

LEOPARD syndrome		Linear nevus sebaceus syndrome
	Very frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac rhythm disorder / arrhythmia - Excessive freckling - Hyperelastic skin / cutaneous hyperlaxity - Hypertelorism - Intrauterine growth retardation - Myelodysplastic syndrome - 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 - Anomalies of ear and hearing - Atrioventricular canal - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Congenital cardiac anomaly / malformation / cardiopathy - Face / facial anomalies - 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 - Melanoma - Myeloproliferative syndrome / chronic leukemia - Neuroblastoma - Rippled skin - Scoliosis - Short stature / dwarfism / nanism - Spina bifida occulta - Subcutaneous nodules / lipomas / tumefaction / swelling - Triangular face		Very frequent - Adenoma sebaceum - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Areflexia / hyporeflexia - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Cavernous / tuberous hemangioma - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Dilated cerebral ventricles without hydrocephaly - EEG anomalies - Frontal bossing / prominent forehead - Genu recurvatum - Hypereflexia - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Narrow forehead - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of eyes and vision - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Irregular / in bands / reticular skin hyperpigmentation - Plagiocephaly - Porencephaly Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dandy-Walker anomaly - Intracranial / cerebral calcifications