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1 OMIM reference -
1 associated gene
30 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
3 OMIM references -
3 associated genes
47 signs/symptoms
Noonan syndrome-like disorder with loose anagen hair
LEOPARD syndrome

SHOC2 BRAF
PTPN11
RAF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SHOC2
(0.84)
RAF1



Citations in the biomedical literature:


Noonan syndrome-like disorder with loose anagen hair
SHOC2
LEOPARD syndrome
BRAF PTPN11 RAF1



Noonan syndrome-like disorder with loose anagen hair
LEOPARD syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Cardiomyopathic lentiginosis
- Familial multiple lentigines syndrome

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
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 -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Pectus excavatum
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Webbed neck / pterygium colli


Noonan syndrome-like disorder with loose anagen hair
LEOPARD syndrome

Very frequent
- Delayed bone age
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Low hair line (back)
- Short / small nose

Frequent
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Epicanthic folds
- Hydrocephaly
- Long / large ear
- Philtrum deeply grooved

Occasional
- Elbow anomalies(excluding luxation)
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Intervertebral disk anomaly
- Multiple caries
- Short hand / brachydactyly
- Thick lips
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Thin / retracted lips


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
- Intrauterine growth retardation
- Myelodysplastic syndrome
- Pigmented naevi / naevus pigmentosus / lentigo
- Pulmonary valve atresia / stenosis / narrowing
- Sensorineural deafness / hearing loss
- Structural anomalies of the genital system

Frequent
- Anomalies of ear and hearing
- Atrioventricular canal
- Congenital cardiac anomaly / malformation / cardiopathy
- Face / facial anomalies
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Ptosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sterility / hypofertility

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