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LRSL
MCID: LRS002
MIFTS: 38

Larsen-Like Syndrome (LRSL)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare 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 56 52 13 71
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 58 29
Larsen-Like Multiple Joint Dislocation Syndrome 52
Larsen-Like Syndrome, Lethal Type 52
Lrsl 56

Characteristics:

OMIM:

56
Inheritance:
isolated cases


HPO:

31
larsen-like syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone 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, lethal type and larsen-like syndrome b3gat3 type. 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 skeletal dysplasia and hip 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 67)
# Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.7
2 larsen-like syndrome b3gat3 type 12.6
3 reunion island larsen-like syndrome 12.5
4 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 12.2
5 trisomy 1q 11.2
6 tracheomalacia 10.3
7 larsen syndrome 10.2
8 flnb disorders 10.2
9 ehlers-danlos syndrome, spondylodysplastic type, 1 10.0
10 thanatophoric dysplasia, type i 10.0
11 hydrops fetalis, nonimmune 10.0
12 intraocular pressure quantitative trait locus 10.0
13 quadriplegia 10.0
14 cleft tongue 10.0
15 immune hydrops fetalis 10.0
16 b4galt7-related spondylodysplastic ehlers-danlos syndrome 10.0
17 ehlers-danlos/osteogenesis imperfecta syndrome 9.9 COL1A2 COL1A1
18 col1a1/2 osteogenesis imperfecta 9.9 COL1A2 COL1A1
19 osteogenesis imperfecta, type i 9.9 COL1A2 COL1A1
20 high bone mass osteogenesis imperfecta 9.9 COL1A2 COL1A1
21 ehlers-danlos syndrome, arthrochalasia type, 2 9.9 COL1A2 COL1A1
22 type i ehlers-danlos syndrome 9.9 COL1A2 COL1A1
23 scleroderma, familial progressive 9.9 COL1A2 COL1A1
24 arthrochalasia ehlers-danlos syndrome 9.9 COL1A2 COL1A1
25 syndromic x-linked intellectual disability cabezas type 9.9 COL1A2 COL1A1
26 osteogenesis imperfecta, type v 9.9 COL1A2 COL1A1
27 osteogenesis imperfecta, type vi 9.9 COL1A2 COL1A1
28 diffuse scleroderma 9.9 COL1A2 COL1A1
29 x-linked alport syndrome 9.9 COL1A2 COL1A1
30 alport syndrome 9.9 COL1A2 COL1A1
31 caffey disease 9.9 COL1A2 COL1A1
32 bruck syndrome 9.9 COL1A2 COL1A1
33 osteoporosis, juvenile 9.9 COL1A2 COL1A1
34 spinal stenosis 9.8 COL1A2 COL1A1
35 dentinogenesis imperfecta 9.8 COL1A2 COL1A1
36 osteogenesis imperfecta, type iv 9.8 COL1A2 COL1A1
37 bone structure disease 9.8 COL1A2 COL1A1
38 bone development disease 9.8 COL1A2 COL1A1
39 endosteal hyperostosis, autosomal dominant 9.8 COL1A2 COL1A1
40 ehlers-danlos syndrome, classic type, 2 9.8 COL5A2 COL3A1
41 plantar fascial fibromatosis 9.8 COL3A1 COL1A1
42 hypermobility syndrome 9.7 COL5A2 COL3A1
43 bone resorption disease 9.7 COL1A2 COL1A1
44 aortic dissection 9.7 COL5A2 COL3A1
45 lipoblastoma 9.7 COL3A1 COL1A2
46 bone remodeling disease 9.7 COL1A2 COL1A1
47 familial thoracic aortic aneurysm and aortic dissection 9.7 COL5A2 COL3A1
48 aortic aneurysm, familial thoracic 1 9.6 COL5A2 COL3A1
49 otosclerosis 9.6 COL1A2 COL1A1
50 classic ehlers-danlos syndrome 9.6 COL5A2 COL1A2 COL1A1

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 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
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 delayed skeletal maturation 31 HP:0002750
22 hypertelorism 31 HP:0000316
23 muscular hypotonia 31 HP:0001252
24 macrocephaly 31 HP:0000256
25 dental malocclusion 31 HP:0000689
26 brachycephaly 31 HP:0000248
27 prominent forehead 31 HP:0011220
28 abnormality of metabolism/homeostasis 31 HP:0001939
29 frontal bossing 31 HP:0002007
30 cleft palate 31 HP:0000175
31 flat face 31 HP:0012368
32 joint dislocation 31 HP:0001373
33 low-set ears 31 HP:0000369
34 recurrent otitis media 31 HP:0000403
35 joint laxity 31 HP:0001388
36 talipes equinovarus 31 HP:0001762
37 kyphoscoliosis 31 HP:0002751
38 conductive hearing impairment 31 HP:0000405
39 malar flattening 31 HP:0000272
40 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
41 wide anterior fontanel 31 HP:0000260
42 generalized hypotonia 31 HP:0001290
43 absent nasal bridge 31 HP:0005285
44 radial deviation of the 4th finger 31 HP:0009279
45 bipartite calcaneus 31 HP:0008127

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

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 Head:
macrocephaly
brachycephaly
large anterior fontanel

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

MGI Mouse Phenotypes related to Larsen-Like Syndrome:

45
# 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. 56 61
12784294 2003
2
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. 56
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 23)
# 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
 12.48 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
ECM-receptor interaction 36
Show member pathways
 11.8 COL1A2 COL1A1
9
Platelet activation 36
11.76 COL3A1 COL1A2 COL1A1
10
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.63 COL3A1 COL1A2 COL1A1
11
Senescence and Autophagy in Cancer 1
11.62 COL3A1 COL1A1
12
Amoebiasis 36
11.59 COL3A1 COL1A2 COL1A1
13
AGE-RAGE signaling pathway in diabetic complications 36
11.54 COL3A1 COL1A2 COL1A1
14
IL4-mediated signaling events 1
11.39 COL1A2 COL1A1
15
Endothelins 1
11.3 COL3A1 COL1A2
16
Cell adhesion_ECM remodeling 22
11.22 COL3A1 COL1A2 COL1A1
17
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.16 COL1A2 COL1A1
18
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.14 COL1A2 COL1A1
19
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.04 COL3A1 COL1A2 COL1A1
20
VEGFR3 signaling in lymphatic endothelium 1
10.9 COL1A2 COL1A1
21
miRNA targets in ECM and membrane receptors 1
10.77 COL5A2 COL3A1 COL1A2
22
G-protein signaling_Rap2B regulation pathway 22
10.68 COL5A2 COL3A1 COL1A2 COL1A1
23
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 9.63 COL3A1 COL1A2 COL1A1
2 platelet activation GO:0030168 9.58 COL3A1 COL1A2 COL1A1
3 extracellular matrix organization GO:0030198 9.56 COL5A2 COL3A1 COL1A2 COL1A1
4 blood vessel development GO:0001568 9.54 COL3A1 COL1A2 COL1A1
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.52 COL3A1 COL1A2
6 ossification GO:0001503 9.51 COL5A2 COL1A1
7 skin development GO:0043588 9.5 COL5A2 COL3A1 COL1A1
8 wound healing GO:0042060 9.49 COL3A1 COL1A1
9 response to mechanical stimulus GO:0009612 9.48 COL3A1 COL1A1
10 skeletal system development GO:0001501 9.46 COL5A2 COL3A1 COL1A2 COL1A1
11 skin morphogenesis GO:0043589 9.43 COL1A2 COL1A1
12 cellular response to amino acid stimulus GO:0071230 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 protease binding GO:0002020 9.5 COL3A1 COL1A2 COL1A1
2 extracellular matrix structural constituent GO:0005201 9.46 COL5A2 COL3A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.43 COL5A2 COL3A1 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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