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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Lentigo (D007911)
Parent Node: Pulmonary Valve Stenosis (D011666)
..Starting node ..LEOPARD Syndrome (D044542)
Child Nodes:
........LEOPARD SYNDROME 3 (OMIM:613707)
........LEOPARD syndrome, 2 (C537117)
Sister Nodes:
..Ciuffo Syndrome (C566733)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Keutel syndrome (C536167)
..LEOPARD Syndrome (D044542) 2
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pulmonary Subvalvular Stenosis (D011662)
..Pulmonic Stenosis and Congenital Nephrosis (C562895)
..WATSON SYNDROME (OMIM:193520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6309

Name:

LEOPARD Syndrome

Definition:

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

Alternative IDs:

OMIM:151100

ParentIDs:

MESH:D000015|MESH:D006330|MESH:D007911|MESH:D011666|MESH:D019465

TreeNumbers:

C05.660.207.525 |C14.240.400.695 |C14.280.400.695 |C14.280.484.716.525 |C16.131.077.525 |C16.131.240.400.685 |C16.131.621.207.525 |C17.800.621.430.530.550.525

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease

Reference:

MedGen: D044542
MeSH: D044542
OMIM: 151100;

Genes: PTPN11;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0010463	Aplasia of the ovary
3	HP:0011710	Bundle branch block
4	HP:0000957	Cafe-au-lait spot
5	HP:0000175	Cleft palate
6	HP:0000028	Cryptorchidism
7	HP:0002967	Cubitus valgus
8	HP:0012569	Delayed menarche
9	HP:0000823	Delayed puberty
10	HP:0000457	Depressed nasal ridge
11	HP:0000286	Epicanthus
12	HP:0000316	Hypertelorism
13	HP:0001639	Hypertrophic cardiomyopathy	HP:0040284
14	HP:0008724	Hypoplasia of the ovary
15	HP:0004409	Hyposmia
16	HP:0000047	Hypospadias
17	HP:0001256	Intellectual disability, mild
18	HP:0002751	Kyphoscoliosis
19	HP:0002996	Limited elbow movement
20	HP:0000369	Low-set ears
21	HP:0000303	Mandibular prognathia
22	HP:0000054	Micropenis
23	HP:0000921	Missing ribs
24	HP:0001003	Multiple lentigines
25	HP:0000242	Parietal bossing
26	HP:0000768	Pectus carinatum
27	HP:0000767	Pectus excavatum
28	HP:0000358	Posteriorly rotated ears
29	HP:0000411	Protruding ear
30	HP:0000508	Ptosis
31	HP:0001642	Pulmonic stenosis	HP:0040284
32	HP:0003691	Scapular winging
33	HP:0000407	Sensorineural hearing impairment
34	HP:0000470	Short neck
35	HP:0004322	Short stature
36	HP:0003298	Spina bifida occulta
37	HP:0000486	Strabismus
38	HP:0001682	Subvalvular aortic stenosis
39	HP:0001709	Third degree atrioventricular block
40	HP:0000325	Triangular face
41	HP:0000122	Unilateral renal agenesis
42	HP:0000465	Webbed neck

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002834.3(PTPN11):c.836A>G (p.Tyr279Cys)	5781	PTPN11	Pathogenic	121918456	RCV000055890; RCV000030620; RCV000033504; RCV000077859;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112910827	112910827	NM_002834.3:c.836A>G	NP_002825.3:p.Tyr279Cys	NC_000012.11:g.112910827A>C,NC_000012.11:g.112910827A>G	Genome Clinic of Geneva,University Hospital of Geneva:5_April2016,HGMD:CM021133,OMIM Allelic Variant:176876.0005	CN074218 151100 LEOPARD syndrome 1; C0028326 Noonan syndrome; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.836A>C (p.Tyr279Ser)	5781	PTPN11	Pathogenic	121918456	RCV000055889;	N	MedGen:CN074218,OMIM:151100	12	112910827	112910827	NM_002834.3:c.836A>C	NP_002825.3:p.Tyr279Ser	NC_000012.11:g.112910827A>C,NC_000012.11:g.112910827A>G	-	CN074218 151100 LEOPARD syndrome 1
NM_002834.3(PTPN11):c.1381G>A (p.Ala461Thr)	5781	PTPN11	Pathogenic	121918468	RCV000037611; RCV000055882; RCV000033530;	N	MedGen:C0175704, Orphanet:ORPHA500; MedGen:CN074218,OMIM:151100; MedGen:CN221809	12	112926248	112926248	NM_002834.3:c.1381G>A	NP_002825.3:p.Ala461Thr	NC_000012.11:g.112926248G>A,NC_000012.11:g.112926248G>T	OMIM Allelic Variant:176876.0020	CN074218 151100 LEOPARD syndrome 1; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided
NM_002834.3(PTPN11):c.1391G>C (p.Gly464Ala)	5781	PTPN11	Pathogenic	121918469	RCV000055883; RCV000033531; RCV000077850;	N	MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926258	112926258	NM_002834.3:c.1391G>C	NP_002825.3:p.Gly464Ala	NC_000012.11:g.112926258G>C	HGMD:CM041070,OMIM Allelic Variant:176876.0021	CN074218 151100 LEOPARD syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1403C>T (p.Thr468Met)	5781	PTPN11	Likely pathogenic;Pathogenic	121918457	RCV000106323; RCV000208002; RCV000055884; RCV000157014; RCV000033533; RCV000077851;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:C0175704, Orphanet:ORPHA500; MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926270	112926270	NM_002834.3:c.1403C>T	NP_002825.3:p.Thr468Met	NC_000012.11:g.112926270C>T	HGMD:CM021672,OMIM Allelic Variant:176876.0006	CN074218 151100 LEOPARD syndrome 1; C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1492C>T (p.Arg498Trp)	5781	PTPN11	Pathogenic	397507541	RCV000055885; RCV000033539;	N	MedGen:CN074218,OMIM:151100; MedGen:CN166718	12	112926872	112926872	NM_002834.3:c.1492C>T	NP_002825.3:p.Arg498Trp	NC_000012.11:g.112926872C>T	-	CN074218 151100 LEOPARD syndrome 1; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1493G>T (p.Arg498Leu)	5781	PTPN11	Pathogenic	397507542	RCV000055886; RCV000033540; RCV000212896;	N	MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926873	112926873	NM_002834.3:c.1493G>T	NP_002825.3:p.Arg498Leu	NC_000012.11:g.112926873G>T	-	CN074218 151100 LEOPARD syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1517A>C (p.Gln506Pro)	5781	PTPN11	Pathogenic	397507548	RCV000154371; RCV000055887; RCV000033550; RCV000157683;	N	MedGen:C0175704, Orphanet:ORPHA500; MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926897	112926897	NM_002834.3:c.1517A>C	NP_002825.3:p.Gln506Pro	NC_000012.11:g.112926897A>C	-	CN074218 151100 LEOPARD syndrome 1; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1528C>G (p.Gln510Glu)	5781	PTPN11	Pathogenic	397507549	RCV000055888; RCV000033553; RCV000210041;	N	MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926908	112926908	NM_002834.3:c.1528C>G	NP_002825.3:p.Gln510Glu	NC_000012.11:g.112926908C>A,NC_000012.11:g.112926908C>G	-	CN074218 151100 LEOPARD syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1529A>C (p.Gln510Pro)	5781	PTPN11	Pathogenic	121918470	RCV000014272; RCV000033554; RCV000210036;	N	MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926909	112926909	NM_002834.3:c.1529A>C	NP_002825.3:p.Gln510Pro	NC_000012.11:g.112926909A>C,NC_000012.11:g.112926909A>G	OMIM Allelic Variant:176876.0022	CN074218 151100 LEOPARD syndrome 1; CN221809 not provided; CN166718 Rasopathy