Leopard Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leopard Syndrome 1

MalaCards integrated aliases for Leopard Syndrome 1:

Name: Leopard Syndrome 1 ⁵⁷ ¹¹ ⁷³ ²⁸ ¹² ⁵ ³⁶

Noonan Syndrome with Multiple Lentigines 1 ¹¹ ¹⁴

Lprd1 ⁵⁷ ⁷³

Lentiginosis, Cardiomyopathic ⁵⁷

Multiple Lentigines Syndrome ⁵⁷

Leopard Syndrome, Type 1 ³⁸

Multiple Lentigines ⁷¹

Leopard Syndrome ⁷¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness
lentigines may be absent
lentigines may be congenital or develop in first months to years of life

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Reproductive diseases Ear diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

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Summaries for Leopard Syndrome 1

OMIM®: ⁵⁷ LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. (151100) (Updated 08-Dec-2022)

MalaCards based summary: Leopard Syndrome 1, also known as noonan syndrome with multiple lentigines 1, is related to noonan syndrome 1 and noonan syndrome with multiple lentigines, and has symptoms including hyposmia An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways is Interleukin-37 signaling. Affiliated tissues include ovary, heart and skin, and related phenotypes are hypertrophic cardiomyopathy and pulmonic stenosis

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

Disease Ontology: ¹¹ A Noonan syndrome with multiple lentigines that has material basis in heterozygous mutation in the PTPN11 gene on chromosome 12q24.

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Related Diseases for Leopard Syndrome 1

Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome 2

Leopard Syndrome 3

Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	noonan syndrome 1	29.0	PTPN11 FAM219B CLCN6 BORCS7 ACBD4
2	noonan syndrome with multiple lentigines	11.6
3	lentiginosis, inherited patterned	11.2
4	lentigines	10.7
5	hypertelorism	10.3
6	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
7	neurofibromatosis-noonan syndrome	10.1
8	hypertrophic cardiomyopathy	10.1
9	neurofibromatosis	10.1
10	cafe-au-lait spots, multiple	10.0
11	dyschromatosis universalis hereditaria 1	10.0
12	neurofibromatosis, type i	10.0
13	pectus excavatum	10.0
14	teeth, supernumerary	10.0
15	renal hypodysplasia/aplasia 1	10.0
16	watson syndrome	10.0
17	alopecia-epilepsy-oligophrenia syndrome of moynahan	10.0
18	cryptorchidism, unilateral or bilateral	10.0
19	graves disease 1	10.0
20	immunodeficiency, common variable, 10	10.0
21	renal hypodysplasia/aplasia 3	10.0
22	sensorineural hearing loss	10.0
23	hypospadias	10.0
24	graves' disease	10.0
25	heart septal defect	10.0
26	atrial heart septal defect	10.0
27	rhabdomyosarcoma	10.0
28	pulmonary valve stenosis	10.0
29	ocular hypertension	10.0
30	pseudo-turner syndrome	10.0
31	interatrial communication	10.0
32	aorto-right ventricular tunnel	10.0

Graphical network of the top 20 diseases related to Leopard Syndrome 1:

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Symptoms & Phenotypes for Leopard Syndrome 1

Human phenotypes related to Leopard Syndrome 1:

³⁰ (show all 41)

#	Description	HPO Frequency	HPO Source Accession
1	hypertrophic cardiomyopathy ³⁰	Very rare (1%)	HP:0001639
2	pulmonic stenosis ³⁰	Very rare (1%)	HP:0001642
3	ptosis ³⁰		HP:0000508
4	short neck ³⁰		HP:0000470
5	hypertelorism ³⁰		HP:0000316
6	mandibular prognathia ³⁰		HP:0000303
7	pectus carinatum ³⁰		HP:0000768
8	sensorineural hearing impairment ³⁰		HP:0000407
9	short stature ³⁰		HP:0004322
10	delayed puberty ³⁰		HP:0000823
11	intellectual disability, mild ³⁰		HP:0001256
12	strabismus ³⁰		HP:0000486
13	cleft palate ³⁰		HP:0000175
14	cryptorchidism ³⁰		HP:0000028
15	cubitus valgus ³⁰		HP:0002967
16	low-set ears ³⁰		HP:0000369
17	webbed neck ³⁰		HP:0000465
18	epicanthus ³⁰		HP:0000286
19	pectus excavatum ³⁰		HP:0000767
20	scapular winging ³⁰		HP:0003691
21	third degree atrioventricular block ³⁰		HP:0001709
22	kyphoscoliosis ³⁰		HP:0002751
23	bundle branch block ³⁰		HP:0011710
24	limited elbow movement ³⁰		HP:0002996
25	depressed nasal ridge ³⁰		HP:0000457
26	micropenis ³⁰		HP:0000054
27	protruding ear ³⁰		HP:0000411
28	hypospadias ³⁰		HP:0000047
29	spina bifida occulta ³⁰		HP:0003298
30	triangular face ³⁰		HP:0000325
31	multiple lentigines ³⁰		HP:0001003
32	missing ribs ³⁰		HP:0000921
33	hyposmia ³⁰		HP:0004409
34	unilateral renal agenesis ³⁰		HP:0000122
35	posteriorly rotated ears ³⁰		HP:0000358
36	cafe-au-lait spot ³⁰		HP:0000957
37	subvalvular aortic stenosis ³⁰		HP:0001682
38	hypoplasia of the ovary ³⁰		HP:0008724
39	aplasia of the ovary ³⁰		HP:0010463
40	delayed menarche ³⁰		HP:0012569
41	parietal bossing ³⁰		HP:0000242

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
winged scapulae
absent ribs

Endocrine Features:
delayed puberty
late menarche

Skeletal Limbs:
cubitus valgus
limited elbow mobility

Skeletal Spine:
kyphoscoliosis
spina bifida occulta

Head And Neck Face:
triangular face
prognathism
biparietal bossing

Genitourinary Kidneys:
unilateral renal agenesis

Neurologic Central Nervous System:
mental retardation, mild

Skin Nails Hair Skin:
cafe-au-lait spots
lentigines, 1-5mm, dark (especially neck and trunk)
cafe-noir spots (trunk)

Genitourinary Internal Genitalia Female:
absent ovary
hypoplastic ovary

Head And Neck Neck:
short neck
pterygium colli

Growth Weight:
short stature

Head And Neck Mouth:
cleft palate

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss
prominent ears

Cardiovascular Heart:
bundle branch block
pulmonic stenosis (40%)
superior ekg axis (-60 degrees to -120 degrees)
hypertrophic cardiomyopathy (20%)
subaortic stenosis
more

Head And Neck Nose:
hyposmia
broad, flat nose

Growth Other:
growth retardation

Genitourinary External Genitalia Male:
small penis
hypospadias (50%)

Genitourinary Internal Genitalia Male:
cryptorchidism (unilateral or bilateral)

Clinical features from OMIM®:

151100 (Updated 08-Dec-2022)

UMLS symptoms related to Leopard Syndrome 1:

hyposmia

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Drugs & Therapeutics for Leopard Syndrome 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity	Completed	NCT02486731
2	Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.	Recruiting	NCT04395495

Search NIH Clinical Center for Leopard Syndrome 1

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Genetic Tests for Leopard Syndrome 1

Genetic tests related to Leopard Syndrome 1:

#	Genetic test	Affiliating Genes
1	Leopard Syndrome 1 ²⁸	PTPN11

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Anatomical Context for Leopard Syndrome 1

Organs/tissues related to Leopard Syndrome 1:

MalaCards : Ovary, Heart, Skin, Testis, Kidney

ODiseA: Testis, Heart-Atrium, Heart-Ventricle, Heart, Skin, Kidney

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Publications for Leopard Syndrome 1

Articles related to Leopard Syndrome 1:

(show top 50) (show all 95)

#	Title	Authors	PMID	Year
1	Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. ⁵⁷ ⁵	Carvajal-Vergara X...Lemischka IR	20535210	2010
2	Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. ⁵⁷ ⁵	Kalidas K...Jeffery S	15690106	2005
3	Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. ⁵⁷ ⁵	Yoshida R...Ogata T	15389709	2004
4	Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. ⁵⁷ ⁵	Digilio MC...Dallapiccola B	12058348	2002
5	Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). ⁶² ⁵⁷	Coppin BD...Temple IK	9222968	1997
6	Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. ⁶² ⁵⁷	Ahlbom BE...Anneren G	7586657	1995
7	Giant melanosomes in multiple lentigines syndrome. ⁶² ⁵⁷	Weiss LW...Zelickson AS	848980	1977
8	Multiple lentigines syndrome. Case report and review of the literature. ⁶² ⁵⁷	Voron DA...Kalkhoff RK	1258892	1976
9	Lentiginosis profusa syndrome (multiple lentigines syndrome). ⁶² ⁵⁷	Selmanowitz VJ...Felsenstein JM	5000391	1971
10	Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. ⁶² ⁵⁷	Swanson SL...Smith DW	5577185	1971
11	Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. ⁵	Marinakis NM...Traeger-Synodinos J	34008892	2021
12	Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. ⁵	Tafazoli A...Abbaszadegan MR	28957739	2018
13	Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. ⁵	Ueda K...Okamoto N	28650561	2017
14	Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ⁵	van Nierop JWI...Kunst HPM	28483241	2017
15	Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. ⁵	van Trier DC...Cruysberg JR	27521173	2016
16	Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. ⁵	Zhang J...Yao Z	27659786	2016
17	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. ⁵	Homsy J...Chung WK	26785492	2015
18	[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. ⁵	Ejarque I...Perez-Aytes A	25912702	2015
19	Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. ⁵	Kiel C...Serrano L	24803665	2014
20	Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ⁵	Qiu W...Chirgadze NY	24628801	2014
21	Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. ⁵	Yoon SR...Arnheim N	23726368	2013
22	Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. ⁵	Jongmans MC...Hoogerbrugge N	21407260	2011
23	Lethal presentation of neurofibromatosis and Noonan syndrome. ⁵	Prada CE...Hopkin RJ	21567923	2011
24	Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? ⁵	Brasil AS...Bertola DR	21340158	2010
25	Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. ⁵	Edouard T...Raynal P	20308328	2010
26	Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. ⁵	Zhang W...Shou W	19509418	2009
27	IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. ⁵⁷	Lehmann LH...Katus HA	19273734	2009
28	Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. ⁵⁷	Schrader KA...McGillivray BC	19054014	2009
29	Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. ⁵	Yoshida R...Nagai T	18253957	2008
30	Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. ⁵⁷	Limongelli G...Calabro R	18241070	2008
31	LEOPARD syndrome: clinical diagnosis in the first year of life. ⁵⁷	Digilio MC...Dallapiccola B	16523510	2006
32	PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. ⁵⁷	Kontaridis MI...Neel BG	16377799	2006
33	Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. ⁵⁷	Tartaglia M...Gelb BD	16358218	2006
34	Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. ⁵	Oishi K...Gelb BD	16399795	2006
35	Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. ⁵	Keilhack H...Neel BG	15987685	2005
36	PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. ⁵	Binder G...Wittekindt NE	15985475	2005
37	Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. ⁵	Fragale A...Gelb BD	14974085	2004
38	Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. ⁵	Tartaglia M...Gelb BD	11704759	2001
39	Leopard syndrome. ⁵⁷	Shamsadini S...Shamsadini F	10551509	1999
40	Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. ⁵⁷	Wu R...Fryns JP	8807336	1996
41	LEOPARD syndrome: death because of chronic respiratory insufficiency. ⁵⁷	Peter JR...Kemp JS	2260561	1990
42	[Hypertrophic cardiomyopathy and lentiginosis]. ⁵⁷	Senn M...Krayenbuhl HP	6539946	1984
43	Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. ⁵⁷	St John Sutton MG...Su WP	7193405	1981
44	Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family. ⁵⁷	Seuanez H...Kolski R	1261064	1976
45	Giant and "granular melanosomes" in Leopard syndrome: an ultrastructural study. ⁵⁷	Bhawan J...Edelstein L	1018060	1976
46	Progressive cardiomyopathic lentiginosis. ⁵⁷	Polani PE...Moynahan EJ	4672553	1972
47	A family study of the leopard syndrome. ⁵⁷	Sommer A...Hosier DM	5581024	1971
48	'Little leopard' syndrome. Description of 3 cases and review of 24. ⁵⁷	Pickering D...Rose V	4995347	1971
49	Congenital deafness and multiple lentigines. A report of cases in a mother and daughter. ⁵⁷	Capute AJ...Richardson F	5797963	1969
50	Multiple lentigenes syndrome. ⁵⁷	Gorlin RJ...Blaw M	5771505	1969

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Genes for Leopard Syndrome 1

Genes related to Leopard Syndrome 1 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1338.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11704759 12058348 14974085 (more) 15389709 15690106 15985475 15987685 16399795 18253957 19509418 20308328 20535210 21340158 21407260 21567923 23726368 24628801 24803665 25912702 26785492 27521173 27659786 28483241 28650561 28957739 34008892
2	FAM219B	Family With Sequence Similarity 219 Member B	Protein Coding	5.58	DISEASES inferred ¹⁴
3	MIR3193	MicroRNA 3193	RNA Gene	5.44	DISEASES inferred ¹⁴
4	CLCN6	Chloride Voltage-Gated Channel 6	Protein Coding	5.36	DISEASES inferred ¹⁴
5	PHETA1	PH Domain Containing Endocytic Trafficking Adaptor 1	Protein Coding	4.96	DISEASES inferred ¹⁴
6	CNPY1	Canopy FGF Signaling Regulator 1	Protein Coding	4.82	DISEASES inferred ¹⁴
7	PTPN20	Protein Tyrosine Phosphatase Non-Receptor Type 20	Protein Coding	4.81	DISEASES inferred ¹⁴
8	BORCS7	BLOC-1 Related Complex Subunit 7	Protein Coding	4.75	DISEASES inferred ¹⁴
9	PALM3	Paralemmin 3	Protein Coding	4.7	DISEASES inferred ¹⁴
10	ARPC5L	Actin Related Protein 2/3 Complex Subunit 5 Like	Protein Coding	4.69	DISEASES inferred ¹⁴
11	ACBD4	Acyl-CoA Binding Domain Containing 4	Protein Coding	4.68	DISEASES inferred ¹⁴

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Variations for Leopard Syndrome 1

ClinVar genetic disease variations for Leopard Syndrome 1:

⁵ (show top 50) (show all 136)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PTPN11	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	SNV	Pathogenic	981584		GRCh37: 12:112893774-112893774 GRCh38: 12:112455970-112455970
2	PTPN11	NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)	SNV	Pathogenic	55798	rs397509344	GRCh37: 12:112926249-112926249 GRCh38: 12:112488445-112488445
3	PTPN11	NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	SNV	Pathogenic	40489	rs397507506	GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354
4	PTPN11	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	SNV	Pathogenic Pathogenic	13344	rs121918470	GRCh37: 12:112926909-112926909 GRCh38: 12:112489105-112489105
5	PTPN11	NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	SNV	Pathogenic	13342	rs121918468	GRCh37: 12:112926248-112926248 GRCh38: 12:112488444-112488444
6	PTPN11	NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	SNV	Pathogenic	13343	rs121918469	GRCh37: 12:112926258-112926258 GRCh38: 12:112488454-112488454
7	PTPN11	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	SNV	Pathogenic Pathogenic	13331	rs121918457	GRCh37: 12:112926270-112926270 GRCh38: 12:112488466-112488466
8	PTPN11	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	SNV	Pathogenic	40553	rs397507541	GRCh37: 12:112926872-112926872 GRCh38: 12:112489068-112489068
9	PTPN11	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	SNV	Pathogenic	40546	rs121918468	GRCh37: 12:112926248-112926248 GRCh38: 12:112488444-112488444
10	PTPN11	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	SNV	Pathogenic	40554	rs397507542	GRCh37: 12:112926873-112926873 GRCh38: 12:112489069-112489069
11	PTPN11	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	SNV	Pathogenic	40502	rs397507514	GRCh37: 12:112888212-112888212 GRCh38: 12:112450408-112450408
12	PTPN11	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	SNV	Pathogenic Pathogenic	13328	rs121918456	GRCh37: 12:112910827-112910827 GRCh38: 12:112473023-112473023
13	PTPN11	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	SNV	Pathogenic	13340	rs121918466	GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416
14	PTPN11	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	SNV	Pathogenic Pathogenic	13333	rs121918459	GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368
15	PTPN11	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	SNV	Pathogenic Pathogenic Pathogenic	13327	rs121918455	GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720
16	PTPN11	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	SNV	Pathogenic	40495	rs397507510	GRCh37: 12:112888165-112888165 GRCh38: 12:112450361-112450361
17	PTPN11	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	SNV	Pathogenic Pathogenic Pathogenic Pathogenic	13326	rs28933386	GRCh37: 12:112915523-112915523 GRCh38: 12:112477719-112477719
18	PTPN11	NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	SNV	Pathogenic Pathogenic	13324	rs121918453	GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394
19	PTPN11	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	SNV	Pathogenic	13325	rs121918454	GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395
20	PTPN11	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	SNV	Pathogenic	40513	rs397507520	GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279
21	PTPN11	NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	SNV	Pathogenic	13334	rs121918462	GRCh37: 12:112888202-112888202 GRCh38: 12:112450398-112450398
22	PTPN11	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	SNV	Pathogenic	40558	rs397507545	GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083
23	PTPN11	NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	SNV	Pathogenic	40561	rs397507546	GRCh37: 12:112926888-112926888 GRCh38: 12:112489084-112489084
24	PTPN11	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	SNV	Pathogenic	13329	rs121918460	GRCh37: 12:112888168-112888168 GRCh38: 12:112450364-112450364
25	PTPN11	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	SNV	Pathogenic Pathogenic	40528	rs397507531	GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040
26	PTPN11	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	SNV	Pathogenic	40559	rs397507545	GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083
27	PTPN11	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	SNV	Pathogenic Pathogenic	40562	rs397507547	GRCh37: 12:112926890-112926890 GRCh38: 12:112489086-112489086
28	PTPN11	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	SNV	Pathogenic	40487	rs397507505	GRCh37: 12:112888156-112888156 GRCh38: 12:112450352-112450352
29	PTPN11	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	SNV	Pathogenic	13345	rs121918470	GRCh37: 12:112926909-112926909 GRCh38: 12:112489105-112489105
30	PTPN11	NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	SNV	Pathogenic Pathogenic	40522	rs376607329	GRCh37: 12:112910785-112910785 GRCh38: 12:112472981-112472981
31	PTPN11	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	SNV	Pathogenic	13330	rs121918461	GRCh37: 12:112888166-112888166 GRCh38: 12:112450362-112450362
32	PTPN11	NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	SNV	Pathogenic	44614	rs397507527	GRCh37: 12:112910793-112910793 GRCh38: 12:112472989-112472989
33	PTPN11	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	SNV	Pathogenic	40552	rs397507540	GRCh37: 12:112926852-112926852 GRCh38: 12:112489048-112489048
34	PTPN11	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	SNV	Pathogenic	40525	rs397507529	GRCh37: 12:112910835-112910835 GRCh38: 12:112473031-112473031
35	PTPN11	NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)	SNV	Likely Pathogenic	280367	rs886041585	GRCh37: 12:112884180-112884180 GRCh38: 12:112446376-112446376
36	PTPN11	NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)	SNV	Likely Pathogenic	976032	rs2037994433	GRCh37: 12:112884157-112884157 GRCh38: 12:112446353-112446353
37	PTPN11	NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	SNV	Likely Pathogenic	40527	rs397507531	GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040
38	PTPN11	NM_002834.5(PTPN11):c.-161T>A	SNV	Uncertain Significance	880816	rs893158717	GRCh37: 12:112856755-112856755 GRCh38: 12:112418951-112418951
39	PTPN11	NM_002834.5(PTPN11):c.-151C>A	SNV	Uncertain Significance	880817	rs889190246	GRCh37: 12:112856765-112856765 GRCh38: 12:112418961-112418961
40	PTPN11	NM_002834.5(PTPN11):c.*64C>G	SNV	Uncertain Significance	880940	rs763895470	GRCh37: 12:112943660-112943660 GRCh38: 12:112505856-112505856
41	PTPN11	NM_002834.5(PTPN11):c.*720C>T	SNV	Uncertain Significance	880986	rs770605810	GRCh37: 12:112944316-112944316 GRCh38: 12:112506512-112506512
42	PTPN11	NM_002834.5(PTPN11):c.*1830G>A	SNV	Uncertain Significance	881085	rs1399608679	GRCh37: 12:112945426-112945426 GRCh38: 12:112507622-112507622
43	PTPN11	NM_002834.5(PTPN11):c.*1332G>A	SNV	Uncertain Significance	307243	rs886048973	GRCh37: 12:112944928-112944928 GRCh38: 12:112507124-112507124
44	PTPN11	NM_002834.5(PTPN11):c.*50C>T	SNV	Uncertain Significance	138845	rs730880328	GRCh37: 12:112943646-112943646 GRCh38: 12:112505842-112505842
45	PTPN11	NM_002834.5(PTPN11):c.*1946G>A	SNV	Uncertain Significance	307251	rs886048976	GRCh37: 12:112945542-112945542 GRCh38: 12:112507738-112507738
46	PTPN11	NM_002834.5(PTPN11):c.*2493C>T	SNV	Uncertain Significance	307252	rs886048977	GRCh37: 12:112946089-112946089 GRCh38: 12:112508285-112508285
47	PTPN11	NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	SNV	Uncertain Significance	488168	rs1555267825	GRCh37: 12:112891139-112891139 GRCh38: 12:112453335-112453335
48	PTPN11	NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	SNV	Uncertain Significance	40540	rs146571700	GRCh37: 12:112915775-112915775 GRCh38: 12:112477971-112477971
49	PTPN11	NM_002834.5(PTPN11):c.*2928A>T	SNV	Uncertain Significance	307257	rs565075386	GRCh37: 12:112946524-112946524 GRCh38: 12:112508720-112508720
50	PTPN11	NM_002834.5(PTPN11):c.14+8G>T	SNV	Uncertain Significance	307224	rs886048965	GRCh37: 12:112856937-112856937 GRCh38: 12:112419133-112419133

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PTPN11	p.Tyr279Cys	VAR_015614	rs121918456
2	PTPN11	p.Thr468Met	VAR_015621	rs121918457
3	PTPN11	p.Tyr279Ser	VAR_027188	rs121918456
4	PTPN11	p.Ala461Thr	VAR_027190	rs121918468
5	PTPN11	p.Gly464Ala	VAR_027191	rs121918469
6	PTPN11	p.Arg498Leu	VAR_027192	rs397507542
7	PTPN11	p.Arg498Trp	VAR_027193	rs397507541
8	PTPN11	p.Gln506Pro	VAR_027194	rs397509345
9	PTPN11	p.Gln510Pro	VAR_027196	rs121918470
10	PTPN11	p.Gln510Glu	VAR_076499	rs397507549

Sources

Expression for Leopard Syndrome 1

Search GEO for disease gene expression data for Leopard Syndrome 1.

Sources

Pathways for Leopard Syndrome 1

Pathways related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Interleukin-37 signaling ⁶⁶	9.95	PTPN20 PTPN11

Sources

GO Terms for Leopard Syndrome 1

Sources

Sources for Leopard Syndrome 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LPRD1 MCID: LPR012 MIFTS: 42	Leopard Syndrome 1 (LPRD1) Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leopard Syndrome 1 (LPRD1)

Aliases & Classifications for Leopard Syndrome 1

MalaCards integrated aliases for Leopard Syndrome 1:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leopard Syndrome 1

Related Diseases for Leopard Syndrome 1

Diseases in the Leopard Syndrome 1 family:

Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leopard Syndrome 1:

Symptoms & Phenotypes for Leopard Syndrome 1

Human phenotypes related to Leopard Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leopard Syndrome 1:

Drugs & Therapeutics for Leopard Syndrome 1

Interventional clinical trials:

Genetic Tests for Leopard Syndrome 1

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Organs/tissues related to Leopard Syndrome 1:

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Genes related to Leopard Syndrome 1 (1 elite genes):

Variations for Leopard Syndrome 1

ClinVar genetic disease variations for Leopard Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

Expression for Leopard Syndrome 1

Pathways for Leopard Syndrome 1

Pathways related to Leopard Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Leopard Syndrome 1

Sources for Leopard Syndrome 1