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LEOPARD syndrome
3 OMIM references -
3 associated genes
47 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Stüve-Wiedemann syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
LEOPARD syndrome
Stüve-Wiedemann syndrome

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.55)
LIFR


Citations in the biomedical literature:


LEOPARD syndrome
BRAF PTPN11 RAF1
Stüve-Wiedemann syndrome
LIFR



LEOPARD syndrome
Stüve-Wiedemann syndrome

Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines syndrome
Synonym(s):
- Stüve-Wiedemann dysplasia
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 bone disease
- Rare developmental defect during embryogenesis
- 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: 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: C537502
COMMON
SIGNS 		- Intrauterine growth retardation
- Scoliosis
- Short stature / dwarfism / nanism

LEOPARD syndrome
Stüve-Wiedemann syndrome

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
- 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
- Spina bifida occulta
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Triangular face


Very frequent
- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Cortical anomaly / thick bone cortical layer
- Dysautonomia / autonomous nervous sytem anomalies
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Early death / lethality
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperhidrosis / increased sweating
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Metaphyseal anomaly
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Short limbs / micromelia / brachymelia

Frequent
- Anomalies of tongue, gingiva and oral mucosa
- Apnea / sleep apnea
- Asthma / bronchospasm
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Defect / anomaly of lacrimal system
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Genu valgum
- Insensitivity to pain
- Mutiple fractures / bone fragility
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

Occasional
- Anomalies of teeth and dentition
- Areflexia / hyporeflexia
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Hypothyroidy
- Hypotonia
- Sacral sinus / dimple