ODCs

Cytoscape Web

Click node...

LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3

Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

LEOPARD syndrome

Rabson-Mendenhall syndrome

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


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

Citations in the biomedical literature:

LEOPARD syndrome		Rabson-Mendenhall syndrome
	Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome		Synonym(s): (no synonyms)

	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 endocrine disease - Rare genetic disease - Rare skin disease

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

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 2 MeSH references: C537116 / D044542		External references: 1 OMIM reference - 1 MeSH reference: D056731


COMMON SIGNS	- Autosomal dominant inheritance - Intrauterine growth retardation - Short stature / dwarfism / nanism

LEOPARD syndrome		Rabson-Mendenhall 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 - Hypertelorism - 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 - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Melanoma - Myeloproliferative syndrome / chronic leukemia - Neuroblastoma - Rippled skin - Scoliosis - Spina bifida occulta - Subcutaneous nodules / lipomas / tumefaction / swelling - Triangular face		Very frequent - Acanthosis nigricans - Acromegaly - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Coarse face - Diabetes mellitus - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hirsutism / hypertrichosis / Increased body hair - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth - Prognathism / prognathia Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Peripheral neuropathy - Precocious puberty - Premature ageing - Proteinuria - Short hand / brachydactyly - Thick skin / pachydermia / orange skin - Thyroid anomalies Occasional - Abnormal / polycystic ovaries - Megaureter / hydronephrosis / pyeloureteral junction syndrome