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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

LEOPARD syndrome

3 OMIM references -
3 associated genes
47 signs/symptoms

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

LEOPARD syndrome

IFNGR1	(UniProt - OMIM)	BRAF	(UniProt - OMIM)
		PTPN11	(UniProt - OMIM)
		RAF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IFNGR1	(0.52)	PTPN11

Citations in the biomedical literature:

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency		LEOPARD syndrome
	Synonym(s): - Autosomal recessive MSMD due to partial IFNgammaR1 deficiency - Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency		Synonym(s): - Cardiomyopathic lentiginosis - Familial multiple lentigines syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune 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): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

LEOPARD 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 - 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
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
(no data available)