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LEOPARD syndrome
3 OMIM references -
3 associated genes
202 connected diseases
47 signs/symptoms
Disease Type of connection
Noonan syndrome
Pilocytic astrocytoma
Cardiofaciocutaneous syndrome
Juvenile myelomonocytic leukemia
Craniopharyngioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Metachondromatosis
Distal 22q11.2 microdeletion syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Precursor T-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Precursor B-cell acute lymphoblastic leukemia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Budd-Chiari syndrome
Phakomatosis pigmentokeratotica
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Hepatocellular carcinoma, childhood-onset
Miller-Dieker syndrome
Gastrointestinal stromal tumor
Cowden syndrome
Proteus syndrome
Burkitt lymphoma
Autoimmune lymphoproliferative syndrome
Severe combined immunodeficiency due to LCK deficiency
Follicular lymphoma
Intravascular large B-cell lymphoma
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Familial medullary thyroid carcinoma
Papillary or follicular thyroid carcinoma
Familial pancreatic carcinoma
Hereditary nonpolyposis colon cancer
Large congenital melanocytic nevus
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Familial retinoblastoma
Giant cell glioblastoma
Gliosarcoma
Growth delay due to insulin-like growth factor I resistance
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Monosomy 13q14
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Unilateral retinoblastoma
Congenital pulmonary alveolar proteinosis
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial papillary renal cell carcinoma
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Obesity due to leptin receptor gene deficiency
X-linked lymphoproliferative disease
Laron syndrome
Short stature due to partial GHR deficiency
Autosomal agammaglobulinemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
SHORT syndrome
Autosomal dominant hyper-IgE syndrome
Glucocorticoid resistance
Hereditary gingival fibromatosis
Cerebellar ataxia - hypogonadism
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Posterior polar cataract
Total congenital cataract
MALT lymphoma
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Primary familial polycythemia
Testicular non seminomatous germ cell tumor
Testicular seminomatous germ cell tumor
Acute biphenotypic leukemia
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Desmoid tumor
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Minimally differentiated acute myeloblastic leukemia
PLCG2-associated antibody deficiency and immune dysregulation
Pilomatrixoma
Senior-Loken syndrome
Williams syndrome
Acatalasemia
Lethal congenital contracture syndrome type 2
Intermittent hydrarthrosis
TRAPS syndrome
Immunodeficiency by defective expression of HLA class 2
Mucocutaneous venous malformations
X-linked non-syndromic intellectual deficit
Atypical chronic myeloid leukemia
Bleeding diathesis due to thromboxane synthesis deficiency
Chronic neutrophilic leukemia
Hereditary neutrophilia
Myeloid neoplasm associated with PDGFRA rearrangement
WHIM syndrome
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant distal renal tubular acidosis
Autosomal dominant macrothrombocytopenia
Behavioral variant of frontotemporal dementia
Carbamoylphosphate synthetase deficiency
Catecholaminergic polymorphic ventricular tachycardia
Childhood-onset nemaline myopathy
Distal renal tubular acidosis with anemia
Early infantile epileptic encephalopathy
Familial drusen
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial thoracic aortic aneurysm and aortic dissection
Fetal and neonatal alloimmune thrombocytopenia
Generalized pseudohypoaldosteronism type 1
Glanzmann thrombasthenia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary spherocytosis
Herpetic encephalitis
Hyperparathyroidism - jaw tumor syndrome
Idiopathic bronchiectasis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit, X-linked, Turner type
Intermediate nemaline myopathy
Jawad syndrome
Liddle syndrome
Parathyroid carcinoma
Progressive non-fluent aphasia
Rare isolated myopia
Retinitis pigmentosa
Seckel syndrome
Semantic dementia
Severe congenital nemaline myopathy
Southeast Asian ovalocytosis
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 12
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Typical nemaline myopathy
Steinert myotonic dystrophy
West syndrome
Chronic mucocutaneous candidiasis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Granulomatosis with polyangiitis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Renal tubular dysgenesis of genetic origin
Stüve-Wiedemann syndrome
Susceptibility to viral and mycobacterial infections
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive systemic lupus erythematosus
Bilateral renal agenesis
Bilateral renal dysplasia
Chronic myeloid leukemia
Common variable immunodeficiency
Congenital amegakaryocytic thrombocytopenia
Familial capillary hemangioma
Haddad syndrome
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hirschsprung disease
Juvenile rheumatoid factor-negative polyarthritis
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Milroy disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Oligoarticular juvenile arthritis
Primary mediastinal large B-cell lymphoma
Unilateral renal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2C
Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
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
External references:
3 OMIM references -
2 MeSH references: C537116 / D044542
Gene symbol UniProt reference OMIM reference
BRAF P15056164757
PTPN11 Q06124176876
RAF1 P04049164760
Very frequent
- Autosomal dominant inheritance
- 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
- Intrauterine growth retardation
- 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
- Short stature / dwarfism / nanism
- Spina bifida occulta
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Triangular face