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	leopard syndrome

Disease ID	611
Disease	leopard syndrome
Definition	A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.
Synonym	cardio cutaneous syndrome cardio-cutaneous syndrome cardio-cutaneous syndromes cardiomyopathic lentiginoses cardiomyopathic lentiginoses, progressive cardiomyopathic lentiginosis cardiomyopathic lentiginosis, progressive cardiomyopathic, lentiginosis cardiomyopathics, lentiginosis generalised lentiginosis generalized lentiginosis lentigines syndrome, multiple lentigines syndromes, multiple lentiginoses, cardiomyopathic lentiginoses, progressive cardiomyopathic lentiginosis cardiomyopathic lentiginosis cardiomyopathics lentiginosis, cardiomyopathic lentiginosis, progressive cardiomyopathic leopard syndrome 1 leopard syndrome 1s leopard syndrome [disease/finding] leopard syndrome lentiginosis leopard syndrome, 1 leopard syndromes leopard syndromes, 1 lprd1 multiple lentigines syndrome multiple lentigines syndrome (disorder) multiple lentigines syndromes noonan syndrome with multiple lentigines progressive cardiomyopathic lentiginoses progressive cardiomyopathic lentiginosis syndrome, cardio-cutaneous syndrome, leopard syndrome, multiple lentigines syndromes, 1 leopard syndromes, cardio-cutaneous syndromes, leopard syndromes, multiple lentigines
Orphanet	ORPHANET:500
OMIM	OMIM:151100
DOID	DOID:14291
UMLS	C0175704
MeSH	D044542
SNOMED-CT	SNOMEDCT_US_2016_09_01:111306001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0007194 \| hypertrophic cardiomyopathy \| 2 C0878544 \| cardiomyopathy \| 2 C0270921 \| axonal neuropathy \| 1 C0004352 \| autism \| 1 C0043202 \| wolff-parkinson-white syndrome \| 1 C0023801 \| lipomatosis \| 1 C0442874 \| neuropathy \| 1 C0039144 \| syringomyelia \| 1 C0085167 \| granular cell tumor \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 673 \| BRAF \| CLINVAR;ORPHANET;GHR 5894 \| RAF1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 5728 \| PTEN \| CTD_human 5781 \| PTPN11 \| CTD_human;GHR;ORPHANET;UNIPROT 1969 \| EPHA2 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 103 \| ADAR \| 1.414 \| DISEASES 23607 \| CD2AP \| 1.836 \| DISEASES 79577 \| CDC73 \| 1.211 \| DISEASES 1443 \| CSH2 \| 1.139 \| DISEASES 1832 \| DSP \| 3.788 \| DISEASES 1969 \| EPHA2 \| 1.022 \| DISEASES 2885 \| GRB2 \| 1.927 \| DISEASES 9019 \| MPZL1 \| 3.473 \| DISEASES 4763 \| NF1 \| 3.763 \| DISEASES 4776 \| NFATC4 \| 2.381 \| DISEASES 1482 \| NKX2-5 \| 1.131 \| DISEASES 10848 \| PPP1R13L \| 2.141 \| DISEASES 5781 \| PTPN11 \| 7.004 \| DISEASES 6093 \| ROCK1 \| 1.171 \| DISEASES 23328 \| SASH1 \| 2.646 \| DISEASES 8036 \| SHOC2 \| 4.895 \| DISEASES 6654 \| SOS1 \| 4.608 \| DISEASES 10252 \| SPRY1 \| 1.866 \| DISEASES 6714 \| SRC \| 2.75 \| DISEASES
Locus	(Waiting for update.)

Disease ID	611
Disease	leopard syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0001639 \| Hypertrophic cardiomyopathy \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0000717 \| Autism \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0001716 \| Wolff-Parkinson-White syndrome \| 1 HP:0030882 \| Enlargement of the diameter (cross-section) of a coronary artery. \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0003390 \| Sensory axonal neuropathy \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1

Disease ID	611
Disease	leopard syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C0455683 \| congenital heart disease C0431368 \| partial agenesis of corpus callosum C0270921 \| axonal neuropathy C0266484 \| schizencephaly C0232306 \| left ventricular hypertrophy C0152171 \| primary pulmonary hypertension C0023321 \| lentigines C0018784 \| sensorineural hearing loss
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0270921 \| axonal neuropathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:22)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918456	19768645	5781	PTPN11	umls:C0175704	BeFree	LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.	0.479558076	2010	PTPN11	12	112473023	A	C,G
rs121918456	16358218	5781	PTPN11	umls:C0175704	BeFree	Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.	0.479558076	2006	PTPN11	12	112473023	A	C,G
rs121918457	17935252	5781	PTPN11	umls:C0175704	BeFree	We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.	0.479558076	2007	PTPN11	12	112488466	C	T
rs121918457	16358218	5781	PTPN11	umls:C0175704	BeFree	Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.	0.479558076	2006	PTPN11	12	112488466	C	T
rs121918457	22585553	5781	PTPN11	umls:C0175704	BeFree	Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.	0.479558076	2012	PTPN11	12	112488466	C	T
rs121918457	18372317	5781	PTPN11	umls:C0175704	BeFree	Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.	0.479558076	2008	PTPN11	12	112488466	C	T
rs121918457	21365175	5781	PTPN11	umls:C0175704	BeFree	LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.	0.479558076	2011	PTPN11	12	112488466	C	T
rs121918457	22585553	6654	SOS1	umls:C0175704	BeFree	Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.	0.003181358	2012	PTPN11	12	112488466	C	T
rs121918470	24939587	5781	PTPN11	umls:C0175704	BeFree	Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome.	0.479558076	2014	PTPN11	12	112489105	A	C,G
rs190222208	22585553	6654	SOS1	umls:C0175704	BeFree	Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.	0.003181358	2012	SOS1	2	39035268	G	A
rs190222208	22585553	5781	PTPN11	umls:C0175704	BeFree	Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.	0.479558076	2012	SOS1	2	39035268	G	A
rs387906661	NA	673	BRAF	umls:C0175704	CLINVAR	NA	0.240814326	NA	BRAF	7	140801551	T	G
rs397507466	NA	673	BRAF	umls:C0175704	CLINVAR	NA	0.240814326	NA	BRAF	7	140801537	T	G,A
rs397507520	18372317	5781	PTPN11	umls:C0175704	BeFree	Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.	0.479558076	2008	PTPN11	12	112453279	G	C,T
rs397507529	18372317	5781	PTPN11	umls:C0175704	BeFree	Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.	0.479558076	2008	PTPN11	12	112473031	A	G
rs397507549	25708222	5781	PTPN11	umls:C0175704	BeFree	In the boy, progressive HCM was diagnosed during the first week of life and a diagnosis of NSML was established at age 20 weeks by showing a heterozygous Q510E mutation in PTPN11.	0.479558076	2015	PTPN11	12	112489104	C	A,G
rs397507549	16733669	5781	PTPN11	umls:C0175704	BeFree	PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype.	0.479558076	2006	PTPN11	12	112489104	C	A,G
rs397507550	21910226	5781	PTPN11	umls:C0175704	BeFree	Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.	0.479558076	2011	PTPN11	12	112489106	G	C
rs80338796	NA	5894	RAF1	umls:C0175704	CLINVAR	NA	0.369087065	NA	RAF1	3	12604200	G	C,A
rs80338797	NA	5894	RAF1	umls:C0175704	CLINVAR	NA	0.369087065	NA	RAF1	3	12584624	G	C
rs80338798	NA	5894	RAF1	umls:C0175704	CLINVAR	NA	0.369087065	NA	RAF1	3	12585761	C	T
rs80338799	NA	5894	RAF1	umls:C0175704	CLINVAR	NA	0.369087065	NA	RAF1	3	12585745	G	C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	611
Disease	leopard syndrome
Case	(Waiting for update.)