LPRD3
MCID: LPR007
MIFTS: 20

Leopard Syndrome 3 (LPRD3)

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

Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Name: Leopard Syndrome 3 58 76 30 13 6 74
Lprd3 58 76
Leopard Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
leopard syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Leopard Syndrome 3

UniProtKB/Swiss-Prot : 76 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 cognitive impairment and curly hair

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

Human phenotypes related to Leopard Syndrome 3:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 33 occasional (7.5%) HP:0100543
2 curly hair 33 occasional (7.5%) HP:0002212
3 hypertelorism 33 HP:0000316
4 low-set ears 33 HP:0000369
5 short neck 33 HP:0000470
6 intellectual disability 33 HP:0001249
7 seizures 33 HP:0001250
8 delayed skeletal maturation 33 HP:0002750
9 depressed nasal bridge 33 HP:0005280
10 sensorineural hearing impairment 33 HP:0000407
11 neonatal hypotonia 33 HP:0001319
12 short stature 33 HP:0004322
13 hyperkeratosis 33 HP:0000962
14 webbed neck 33 HP:0000465
15 shield chest 33 HP:0000914
16 multiple cafe-au-lait spots 33 HP:0007565
17 tetralogy of fallot 33 HP:0001636
18 multiple lentigines 33 HP:0001003
19 posteriorly rotated ears 33 HP:0000358
20 numerous nevi 33 HP:0001054
21 abnormal mitral valve morphology 33 HP:0001633
22 abnormal aortic valve morphology 33 HP:0001646

Symptoms via clinical synopsis from OMIM:

58
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

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 30 BRAF

Anatomical Context for Leopard Syndrome 3

MalaCards organs/tissues related to Leopard Syndrome 3:

42
Bone

Publications for Leopard Syndrome 3

Variations for Leopard Syndrome 3

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

76
# 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_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely pathogenic rs387906660 GRCh37 Chromosome 7, 140501350: 140501350
2 BRAF NM_004333.5(BRAF): c.722C> T (p.Thr241Met) single nucleotide variant Pathogenic/Likely 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....