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LRSL
MCID: LRS002
MIFTS: 39

Larsen-Like Syndrome (LRSL)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Larsen-Like Syndrome

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MalaCards integrated aliases for Larsen-Like Syndrome:

Name: Larsen-Like Syndrome 57 20 13 71
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 58 29
Larsen-Like Multiple Joint Dislocation Syndrome 20
Larsen-Like Syndrome, Lethal Type 20
Lrsl 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
isolated cases


HPO:

31
larsen-like syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Respiratory diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Larsen-Like Syndrome

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MalaCards based summary : Larsen-Like Syndrome, also known as larsen-like osseous dysplasia-short stature syndrome, is related to larsen-like syndrome b3gat3 type and multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects. An important gene associated with Larsen-Like Syndrome is LRSL (Larsen-Like Syndrome), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, brain and tongue, and related phenotypes are scoliosis and skeletal dysplasia

More information from OMIM: 608545
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Related Diseases for Larsen-Like Syndrome

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Diseases in the Larsen Syndrome family:

Larsen-Like Syndrome

Diseases related to Larsen-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 larsen-like syndrome b3gat3 type 11.6
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.4
3 larsen-like syndrome, lethal type 11.4
4 reunion island larsen-like syndrome 11.2
5 trisomy 1q 10.9
6 tracheomalacia 10.2
7 larsen syndrome 10.1
8 flnb disorders 10.1
9 hypermobile ehlers-danlos syndrome 10.0 COL5A2 COL1A1
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A2 COL1A1
11 col1a1/2 osteogenesis imperfecta 10.0 COL1A2 COL1A1
12 osteogenesis imperfecta, type i 10.0 COL1A2 COL1A1
13 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1
14 arthrochalasia ehlers-danlos syndrome 10.0 COL1A2 COL1A1
15 fibrogenesis imperfecta ossium 10.0 COL1A2 COL1A1
16 ehlers-danlos syndrome, arthrochalasia type, 2 10.0 COL1A2 COL1A1
17 scleroderma, familial progressive 10.0 COL1A2 COL1A1
18 ehlers-danlos syndrome, spondylodysplastic type, 1 10.0
19 thanatophoric dysplasia, type i 10.0
20 hydrops fetalis, nonimmune 10.0
21 intraocular pressure quantitative trait locus 10.0
22 ehlers-danlos syndrome, spondylodysplastic type, 2 10.0
23 quadriplegia 10.0
24 cleft tongue 10.0
25 spondylodysplastic ehlers-danlos syndrome 10.0
26 immune hydrops fetalis 10.0
27 b4galt7-related spondylodysplastic ehlers-danlos syndrome 10.0
28 syndromic x-linked intellectual disability cabezas type 10.0 COL1A2 COL1A1
29 diffuse scleroderma 10.0 COL1A2 COL1A1
30 osteogenesis imperfecta, type v 9.9 COL1A2 COL1A1
31 ehlers-danlos syndrome, cardiac valvular type 9.9 COL1A2 COL1A1
32 osteogenesis imperfecta, type vii 9.9 COL1A2 COL1A1
33 x-linked alport syndrome 9.9 COL1A2 COL1A1
34 alport syndrome 9.9 COL1A2 COL1A1
35 osteogenesis imperfecta, type ix 9.9 COL1A2 COL1A1
36 bruck syndrome 9.9 COL1A2 COL1A1
37 caffey disease 9.9 COL1A2 COL1A1
38 osteoporosis, juvenile 9.9 COL1A2 COL1A1
39 spinal stenosis 9.9 COL1A2 COL1A1
40 oral submucous fibrosis 9.9 COL1A2 COL1A1
41 bone structure disease 9.9 COL1A2 COL1A1
42 osteogenesis imperfecta, type iv 9.9 COL1A2 COL1A1
43 dentinogenesis imperfecta 9.9 COL1A2 COL1A1
44 bone development disease 9.9 COL1A2 COL1A1
45 bone resorption disease 9.9 COL1A2 COL1A1
46 aneurysm 9.9 COL3A1 COL1A1
47 endosteal hyperostosis, autosomal dominant 9.9 COL1A2 COL1A1
48 hyperostosis 9.8 COL1A2 COL1A1
49 plantar fascial fibromatosis 9.8 COL3A1 COL1A1
50 ehlers-danlos syndrome, classic type, 2 9.8 COL5A2 COL3A1

Graphical network of the top 20 diseases related to Larsen-Like Syndrome:



Diseases related to Larsen-Like Syndrome
Sources

Symptoms & Phenotypes for Larsen-Like Syndrome

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Human phenotypes related to Larsen-Like Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
7 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
8 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
9 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
10 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
13 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
14 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
15 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
18 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
19 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
20 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
21 macrocephaly 31 HP:0000256
22 frontal bossing 31 HP:0002007
23 delayed skeletal maturation 31 HP:0002750
24 hypertelorism 31 HP:0000316
25 dental malocclusion 31 HP:0000689
26 brachycephaly 31 HP:0000248
27 prominent forehead 31 HP:0011220
28 cleft palate 31 HP:0000175
29 flat face 31 HP:0012368
30 low-set ears 31 HP:0000369
31 recurrent otitis media 31 HP:0000403
32 joint laxity 31 HP:0001388
33 talipes equinovarus 31 HP:0001762
34 kyphoscoliosis 31 HP:0002751
35 conductive hearing impairment 31 HP:0000405
36 joint dislocation 31 HP:0001373
37 malar flattening 31 HP:0000272
38 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
39 wide anterior fontanel 31 HP:0000260
40 generalized hypotonia 31 HP:0001290
41 absent nasal bridge 31 HP:0005285
42 hypotonia 31 HP:0001252
43 radial deviation of the 4th finger 31 HP:0009279
44 bipartite calcaneus 31 HP:0008127

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
brachycephaly
large anterior fontanel

Growth Height:
short stature

Head And Neck Mouth:
cleft palate

Skeletal Spine:
kyphoscoliosis

Neurologic:
hypotonia

Head And Neck Teeth:
malocclusion

Skeletal Feet:
clubfoot
double calcaneal ossification center

Laboratory Abnormalities:
abnormal karyotype in 3 patients involving distal 6p

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
flat face

Head And Neck Ears:
low-set ears
conductive hearing loss
recurrent episodes of otitis media

Head And Neck Nose:
absent nasal bridge

Neurologic Central Nervous System:
developmental delay

Skeletal:
delayed bone age
joint dislocations
joint laxity (hip, knee, shoulder, wrist, fingers)

Skeletal Hands:
clinodactyly (4th and 5th fingers)
cylindrical fingers

Clinical features from OMIM®:

608545 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Larsen-Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COL1A1 COL1A2 COL3A1 COL5A2
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Drugs & Therapeutics for Larsen-Like Syndrome

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Search Clinical Trials , NIH Clinical Center for Larsen-Like Syndrome

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Genetic Tests for Larsen-Like Syndrome

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Genetic tests related to Larsen-Like Syndrome:

# Genetic test Affiliating Genes
1 Larsen-Like Osseous Dysplasia-Short Stature Syndrome 29
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Anatomical Context for Larsen-Like Syndrome

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MalaCards organs/tissues related to Larsen-Like Syndrome:

40
Bone, Brain, Tongue
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Publications for Larsen-Like Syndrome

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Articles related to Larsen-Like Syndrome:

# Title Authors PMID Year
1
Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. 57 61
12784294 2003
2
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. 57
1916762 1991
3
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. 61
25893793 2015
4
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 61
21763480 2011
5
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. 61
19014058 2008
6
Delineation of two distinct 6p deletion syndromes. 61
10071194 1999
7
Brain dysplasia associated with Larsen-like syndrome. 61
8652025 1996
8
Glaucoma with a Larsen-like syndrome. 61
7749667 1994
9
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 61
1640425 1992
10
A lethal, Larsen-like multiple joint dislocation syndrome. 61
7137228 1982
Sources

Variations for Larsen-Like Syndrome

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Expression for Larsen-Like Syndrome

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Search GEO for disease gene expression data for Larsen-Like Syndrome.
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Pathways for Larsen-Like Syndrome

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Pathways related to Larsen-Like Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.38 COL5A2 COL3A1 COL1A2 COL1A1
2
Integrin Pathway 63
Show member pathways
 13.03 COL5A2 COL3A1 COL1A2 COL1A1
3
Phospholipase-C Pathway 63
Show member pathways
 12.72 COL5A2 COL3A1 COL1A2 COL1A1
4
Focal Adhesion 36 1
Show member pathways
 12.58 COL5A2 COL3A1 COL1A2 COL1A1
5
Collagen chain trimerization 65
Show member pathways
 12.49 COL5A2 COL3A1 COL1A2 COL1A1
6
Relaxin signaling pathway 36
Show member pathways
 12.34 COL3A1 COL1A2 COL1A1
7
Degradation of the extracellular matrix 65
Show member pathways
 12.28 COL5A2 COL3A1 COL1A2 COL1A1
8
Platelet activation 36
11.76 COL3A1 COL1A2 COL1A1
9
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.63 COL3A1 COL1A2 COL1A1
10
Senescence and Autophagy in Cancer 1
11.62 COL3A1 COL1A1
11
Amoebiasis 36
11.59 COL3A1 COL1A2 COL1A1
12
AGE-RAGE signaling pathway in diabetic complications 36
11.54 COL3A1 COL1A2 COL1A1
13
IL4-mediated signaling events 1
11.39 COL1A2 COL1A1
14
Endothelins 1
11.3 COL3A1 COL1A2
15
Cell adhesion_ECM remodeling 23
11.22 COL3A1 COL1A2 COL1A1
16
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.16 COL1A2 COL1A1
17
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.14 COL1A2 COL1A1
18
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.04 COL3A1 COL1A2 COL1A1
19
VEGFR3 signaling in lymphatic endothelium 1
10.9 COL1A2 COL1A1
20
miRNA targets in ECM and membrane receptors 1
10.77 COL5A2 COL3A1 COL1A2
21
G-protein signaling_Rap2B regulation pathway 23
10.68 COL5A2 COL3A1 COL1A2 COL1A1
22
Inflammatory Response Pathway 1
10.32 COL3A1 COL1A2 COL1A1
Sources

GO Terms for Larsen-Like Syndrome

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Cellular components related to Larsen-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.67 COL5A2 COL3A1 COL1A2 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.62 COL5A2 COL3A1 COL1A2 COL1A1
3 endoplasmic reticulum lumen GO:0005788 9.56 COL5A2 COL3A1 COL1A2 COL1A1
4 extracellular matrix GO:0031012 9.46 COL5A2 COL3A1 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1
6 collagen trimer GO:0005581 8.92 COL5A2 COL3A1 COL1A2 COL1A1

Biological processes related to Larsen-Like Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.61 COL3A1 COL1A2 COL1A1
2 platelet activation GO:0030168 9.54 COL3A1 COL1A2 COL1A1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.52 COL3A1 COL1A2
4 ossification GO:0001503 9.51 COL5A2 COL1A1
5 cellular response to amino acid stimulus GO:0071230 9.5 COL5A2 COL1A2 COL1A1
6 wound healing GO:0042060 9.49 COL3A1 COL1A1
7 response to mechanical stimulus GO:0009612 9.48 COL3A1 COL1A1
8 blood vessel development GO:0001568 9.46 COL1A2 COL1A1
9 extracellular matrix organization GO:0030198 9.46 COL5A2 COL3A1 COL1A2 COL1A1
10 skin development GO:0043588 9.43 COL5A2 COL3A1 COL1A1
11 skin morphogenesis GO:0043589 9.4 COL1A2 COL1A1
12 skeletal system development GO:0001501 9.26 COL5A2 COL3A1 COL1A2 COL1A1
13 collagen fibril organization GO:0030199 8.92 COL5A2 COL3A1 COL1A2 COL1A1

Molecular functions related to Larsen-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.46 COL5A2 COL3A1 COL1A2 COL1A1
2 protease binding GO:0002020 9.43 COL3A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.32 COL5A2 COL1A2
4 platelet-derived growth factor binding GO:0048407 9.13 COL3A1 COL1A2 COL1A1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL5A2 COL3A1 COL1A2 COL1A1
Sources

Sources for Larsen-Like Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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