LPRD3
MCID: LPR007
MIFTS: 28

Leopard Syndrome 3 (LPRD3)

Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases
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Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Name: Leopard Syndrome 3 57 11 73 28 12 5 71
Lprd3 57 73
Noonan Syndrome with Multiple Lentigines 3 11
Leopard Syndrome, Type 3 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
two unrelated patients have been reported (last curated may 2015)


Classifications:



Summaries for Leopard Syndrome 3

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.

MalaCards based summary: Leopard Syndrome 3, is also known as lprd3. An important gene associated with Leopard Syndrome 3 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skeletal muscle, skin and heart, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology: 11 A Noonan syndrome with multiple lentigines that has material basis in heterozygous mutation in the BRAF gene on chromosome 7q34.

More information from OMIM: 613707 PS151100

Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome 2 Leopard Syndrome 3

Symptoms & Phenotypes for Leopard Syndrome 3

Human phenotypes related to Leopard Syndrome 3:

30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 Very rare (1%) HP:0000256
2 intellectual disability 30 Very rare (1%) HP:0001249
3 seizure 30 Very rare (1%) HP:0001250
4 short neck 30 Very rare (1%) HP:0000470
5 delayed skeletal maturation 30 Very rare (1%) HP:0002750
6 depressed nasal bridge 30 Very rare (1%) HP:0005280
7 hypertelorism 30 Very rare (1%) HP:0000316
8 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
9 neonatal hypotonia 30 Very rare (1%) HP:0001319
10 short stature 30 Very rare (1%) HP:0004322
11 prominent forehead 30 Very rare (1%) HP:0011220
12 dry skin 30 Very rare (1%) HP:0000958
13 cubitus valgus 30 Very rare (1%) HP:0002967
14 wide intermamillary distance 30 Very rare (1%) HP:0006610
15 low-set ears 30 Very rare (1%) HP:0000369
16 webbed neck 30 Very rare (1%) HP:0000465
17 shield chest 30 Very rare (1%) HP:0000914
18 low posterior hairline 30 Very rare (1%) HP:0002162
19 dolichocephaly 30 Very rare (1%) HP:0000268
20 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
21 tetralogy of fallot 30 Very rare (1%) HP:0001636
22 multiple lentigines 30 Very rare (1%) HP:0001003
23 posteriorly rotated ears 30 Very rare (1%) HP:0000358
24 curly hair 30 Very rare (1%) HP:0002212
25 narrow forehead 30 Very rare (1%) HP:0000341
26 numerous nevi 30 Very rare (1%) HP:0001054
27 epidermal hyperkeratosis 30 Very rare (1%) HP:0007543
28 few cafe-au-lait spots 30 Very rare (1%) HP:0007429
29 palpebral thickening 30 Very rare (1%) HP:0030939
30 abnormal aortic valve morphology 30 HP:0001646
31 abnormal mitral valve morphology 30 HP:0001633

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism

Skin Nails Hair Skin:
hyperkeratosis
cafe-au-lait spots
lentigines
pigmented lesions

Cardiovascular Heart:
tetralogy of fallot
conduction defects
cardiac defects
valvular defects

Neurologic Central Nervous System:
seizures (in some patients)
cognitive defects (in some patients)

Chest External Features:
broad chest
thoracic defects

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

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

Skeletal:
delayed bone age
reduced bone density

Growth Other:
poor growth

Skin Nails Hair Hair:
curly hair (in some patients)

Clinical features from OMIM®:

613707 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leopard Syndrome 3

Search Clinical Trials, NIH Clinical Center for Leopard Syndrome 3

Genetic Tests for Leopard Syndrome 3

Genetic tests related to Leopard Syndrome 3:

# Genetic test Affiliating Genes
1 Leopard Syndrome 3 28 BRAF

Anatomical Context for Leopard Syndrome 3

Organs/tissues related to Leopard Syndrome 3:

MalaCards : Skeletal Muscle, Skin, Heart, Bone, Testis
ODiseA: Testis, Skeletal Muscle, Heart-Atrium, Heart-Ventricle, Heart, Skin

Publications for Leopard Syndrome 3

Articles related to Leopard Syndrome 3:

# Title Authors PMID Year
1
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 57 5
19416762 2009
2
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 57 5
19206169 2009
3
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 57 5
18042262 2008
4
[Progressive cardiomyopathic lentiginosis (LEOPARD syndrome) in 3 patients, combined with Marfan syndrome]. 62
2343617 1990

Variations for Leopard Syndrome 3

ClinVar genetic disease variations for Leopard Syndrome 3:

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRAF NM_004333.6(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic
29805 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
2 BRAF NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic
Pathogenic
Not Provided
29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
3 BRAF NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) SNV Pathogenic
Likely Pathogenic
40347 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
4 BRAF NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) SNV Pathogenic
Pathogenic
13973 rs180177035 GRCh37: 7:140501302-140501302
GRCh38: 7:140801502-140801502
5 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) SNV Likely Pathogenic
13981 rs180177042 GRCh37: 7:140449165-140449165
GRCh38: 7:140749365-140749365
6 BRAF NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) SNV Likely Pathogenic
44811 rs397516895 GRCh37: 7:140453192-140453192
GRCh38: 7:140753392-140753392
7 BRAF NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) SNV Uncertain Significance
561797 rs1562939198 GRCh37: 7:140449139-140449139
GRCh38: 7:140749339-140749339
8 BRAF NM_004333.6(BRAF):c.1237G>A (p.Val413Met) SNV Uncertain Significance
44799 rs377093637 GRCh37: 7:140482898-140482898
GRCh38: 7:140783098-140783098
9 BRAF NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) SNV Uncertain Significance
372564 rs557241012 GRCh37: 7:140534476-140534476
GRCh38: 7:140834676-140834676
10 BRAF NM_004333.6(BRAF):c.*7T>C SNV Uncertain Significance
162794 rs727502903 GRCh37: 7:140434390-140434390
GRCh38: 7:140734590-140734590
11 BRAF NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) SNV Uncertain Significance
359048 rs201481342 GRCh37: 7:140494224-140494224
GRCh38: 7:140794424-140794424
12 BRAF NM_004333.6(BRAF):c.981-14C>A SNV Uncertain Significance
359049 rs200002171 GRCh37: 7:140494281-140494281
GRCh38: 7:140794481-140794481
13 BRAF NM_004333.6(BRAF):c.940T>A (p.Ser314Thr) SNV Uncertain Significance
1709831 GRCh37: 7:140500202-140500202
GRCh38: 7:140800402-140800402
14 BRAF NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) SNV Uncertain Significance
908790 rs1797600118 GRCh37: 7:140449136-140449136
GRCh38: 7:140749336-140749336
15 BRAF NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) SNV Uncertain Significance
908852 rs1803936771 GRCh37: 7:140508737-140508737
GRCh38: 7:140808937-140808937
16 BRAF NM_004333.6(BRAF):c.469G>A (p.Val157Ile) SNV Uncertain Significance
503529 rs1258111302 GRCh37: 7:140534444-140534444
GRCh38: 7:140834644-140834644
17 BRAF NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) SNV Uncertain Significance
505121 rs749247588 GRCh37: 7:140534597-140534597
GRCh38: 7:140834797-140834797
18 BRAF NM_004333.6(BRAF):c.1569A>G (p.Pro523=) SNV Uncertain Significance
909644 rs759843625 GRCh37: 7:140476837-140476837
GRCh38: 7:140777037-140777037
19 BRAF NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) SNV Uncertain Significance
133720 rs587778114 GRCh37: 7:140624432-140624432
GRCh38: 7:140924632-140924632
20 BRAF NM_004333.6(BRAF):c.*216T>C SNV Uncertain Significance
909590 rs184804021 GRCh37: 7:140434181-140434181
GRCh38: 7:140734381-140734381
21 BRAF NM_004333.6(BRAF):c.*203A>G SNV Uncertain Significance
910513 rs1796208696 GRCh37: 7:140434194-140434194
GRCh38: 7:140734394-140734394
22 BRAF NM_004333.6(BRAF):c.*143A>G SNV Uncertain Significance
910514 rs1585929994 GRCh37: 7:140434254-140434254
GRCh38: 7:140734454-140734454
23 BRAF NM_004333.6(BRAF):c.*124G>C SNV Uncertain Significance
910515 rs1317771158 GRCh37: 7:140434273-140434273
GRCh38: 7:140734473-140734473
24 BRAF NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) SNV Uncertain Significance
910575 rs923739321 GRCh37: 7:140482955-140482955
GRCh38: 7:140783155-140783155
25 BRAF NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) SNV Uncertain Significance
910576 rs151308995 GRCh37: 7:140494182-140494182
GRCh38: 7:140794382-140794382
26 BRAF NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) SNV Uncertain Significance
910577 rs1398817791 GRCh37: 7:140494192-140494192
GRCh38: 7:140794392-140794392
27 BRAF NM_004333.6(BRAF):c.-12C>T SNV Uncertain Significance
910631 rs1390547132 GRCh37: 7:140624515-140624515
GRCh38: 7:140924715-140924715
28 BRAF NM_004333.6(BRAF):c.-56C>T SNV Uncertain Significance
910632 rs867823794 GRCh37: 7:140624559-140624559
GRCh38: 7:140924759-140924759
29 BRAF NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) SNV Uncertain Significance
543985 rs1554400237 GRCh37: 7:140482945-140482945
GRCh38: 7:140783145-140783145
30 BRAF NM_004333.6(BRAF):c.*3C>T SNV Uncertain Significance
359043 rs746680490 GRCh37: 7:140434394-140434394
GRCh38: 7:140734594-140734594
31 BRAF NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) SNV Uncertain Significance
40335 rs397507456 GRCh37: 7:140624440-140624440
GRCh38: 7:140924640-140924640
32 BRAF NM_004333.6(BRAF):c.2196C>G (p.Ser732=) SNV Uncertain Significance
417227 rs142592480 GRCh37: 7:140434502-140434502
GRCh38: 7:140734702-140734702
33 BRAF NM_004333.6(BRAF):c.1023A>G (p.Pro341=) SNV Uncertain Significance
512959 rs56092510 GRCh37: 7:140494225-140494225
GRCh38: 7:140794425-140794425
34 BRAF NM_004333.6(BRAF):c.1166G>A (p.Arg389His) SNV Uncertain Significance
372627 rs577372072 GRCh37: 7:140487359-140487359
GRCh38: 7:140787559-140787559
35 BRAF NM_004333.6(BRAF):c.36G>A (p.Ala12=) SNV Likely Benign
40333 rs397507454 GRCh37: 7:140624468-140624468
GRCh38: 7:140924668-140924668
36 BRAF NM_004333.6(BRAF):c.1227A>G (p.Ser409=) SNV Likely Benign
40360 rs145035762 GRCh37: 7:140482908-140482908
GRCh38: 7:140783108-140783108
37 BRAF NM_004333.6(BRAF):c.375T>G (p.Ser125=) SNV Likely Benign
44825 rs201507202 GRCh37: 7:140534538-140534538
GRCh38: 7:140834738-140834738
38 BRAF NM_004333.6(BRAF):c.708C>T (p.Asn236=) SNV Benign
44827 rs138333692 GRCh37: 7:140507763-140507763
GRCh38: 7:140807963-140807963
39 BRAF NM_004333.6(BRAF):c.1068A>G (p.Gln356=) SNV Benign
44788 rs143335467 GRCh37: 7:140494180-140494180
GRCh38: 7:140794380-140794380
40 BRAF NM_004333.6(BRAF):c.-5A>G SNV Benign
136536 rs71645936 GRCh37: 7:140624508-140624508
GRCh38: 7:140924708-140924708
41 BRAF NM_004333.6(BRAF):c.*387G>A SNV Benign
359041 rs114105685 GRCh37: 7:140434010-140434010
GRCh38: 7:140734210-140734210
42 BRAF NM_004333.6(BRAF):c.2127+3A>G SNV Benign
41447 rs371976102 GRCh37: 7:140439609-140439609
GRCh38: 7:140739809-140739809
43 BRAF NM_004333.6(BRAF):c.1929A>G (p.Gly643=) SNV Benign
40391 rs9648696 GRCh37: 7:140449150-140449150
GRCh38: 7:140749350-140749350
44 BRAF NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) SNV Benign
40337 rs371877084 GRCh37: 7:140624426-140624426
GRCh38: 7:140924626-140924626
45 BRAF NM_004333.6(BRAF):c.1332G>A (p.Arg444=) SNV Benign
40362 rs56101602 GRCh37: 7:140481476-140481476
GRCh38: 7:140781676-140781676
46 BRAF NM_004333.6(BRAF):c.2235A>G (p.Leu745=) SNV Benign
40399 rs56046546 GRCh37: 7:140434463-140434463
GRCh38: 7:140734663-140734663
47 BRAF NM_004333.6(BRAF):c.-19C>T SNV Benign
41445 rs71645935 GRCh37: 7:140624522-140624522
GRCh38: 7:140924722-140924722
48 BRAF NM_004333.6(BRAF):c.1383A>G (p.Gln461=) SNV Benign
40363 rs56216404 GRCh37: 7:140481425-140481425
GRCh38: 7:140781625-140781625
49 BRAF NM_004333.6(BRAF):c.1694+14G>A SNV Benign
44809 rs184144181 GRCh37: 7:140476698-140476698
GRCh38: 7:140776898-140776898
50 BRAF NM_004333.6(BRAF):c.*111C>T SNV Benign
359042 rs539860876 GRCh37: 7:140434286-140434286
GRCh38: 7:140734486-140734486

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 BRAF p.Thr241Pro VAR_058621 rs387906661

Expression for Leopard Syndrome 3

Search GEO for disease gene expression data for Leopard Syndrome 3.

Pathways for Leopard Syndrome 3

GO Terms for Leopard Syndrome 3

Sources for Leopard Syndrome 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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