MCID: LPR007
MIFTS: 20

Leopard Syndrome 3

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Name: Leopard Syndrome 3 57 75 29 13 6 73
Lprd3 57 75
Leopard Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients have been reported (last curated may 2015)


HPO:

32
leopard syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Leopard Syndrome 3

UniProtKB/Swiss-Prot : 75 LEOPARD syndrome 3: 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 bone, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 613707

Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome family:

Leopard Syndrome 1 Leopard Syndrome 2
Leopard Syndrome 3

Symptoms & Phenotypes for Leopard Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck

Growth Height:
short stature

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

Head And Neck Nose:
depressed nasal bridge

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

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

Human phenotypes related to Leopard Syndrome 3:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 delayed skeletal maturation 32 HP:0002750
7 depressed nasal bridge 32 HP:0005280
8 sensorineural hearing impairment 32 HP:0000407
9 neonatal hypotonia 32 HP:0001319
10 short stature 32 HP:0004322
11 cognitive impairment 32 occasional (7.5%) HP:0100543
12 hyperkeratosis 32 HP:0000962
13 webbed neck 32 HP:0000465
14 shield chest 32 HP:0000914
15 multiple cafe-au-lait spots 32 HP:0007565
16 tetralogy of fallot 32 HP:0001636
17 curly hair 32 occasional (7.5%) HP:0002212
18 multiple lentigines 32 HP:0001003
19 posteriorly rotated ears 32 HP:0000358
20 numerous nevi 32 HP:0001054
21 abnormal mitral valve morphology 32 HP:0001633
22 abnormal aortic valve morphology 32 HP:0001646

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 29 BRAF

Anatomical Context for Leopard Syndrome 3

MalaCards organs/tissues related to Leopard Syndrome 3:

41
Bone

Publications for Leopard Syndrome 3

Variations for Leopard Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 BRAF p.Thr241Pro VAR_058621 rs387906661

ClinVar genetic disease variations for Leopard Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
2 BRAF NM_004333.4(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic rs387906660 GRCh38 Chromosome 7, 140801550: 140801550
3 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
4 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
5 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
6 BRAF NM_004333.4(BRAF): c.735A> C (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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