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LRSL
MCID: LRS002
MIFTS: 36

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 57 53 13 72
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 59
Larsen-Like Multiple Joint Dislocation Syndrome 53
Larsen-Like Syndrome, Lethal Type 53
Lrsl 57

Characteristics:

OMIM:

57
Inheritance:
isolated cases


HPO:

32
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: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 608545
ICD10 via Orphanet 34 Q74.8
Orphanet 59 ORPHA2370
MedGen 42 C1837884
UMLS 72 C1837884
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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 Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, brain and tongue, and related phenotypes are scoliosis 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 all 47)
# Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.7
2 larsen-like syndrome b3gat3 type 12.5
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 11.3
6 tracheomalacia 10.3
7 larsen syndrome 10.2
8 flnb-related 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 fetal edema 10.0
16 hydrops fetalis 10.0
17 immune hydrops fetalis 10.0
18 b4galt7-related spondylodysplastic ehlers-danlos syndrome 10.0
19 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A2 COL1A1
20 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1
21 osteogenesis imperfecta, type vii 10.0 COL1A2 COL1A1
22 osteogenesis imperfecta, type viii 10.0 COL1A2 COL1A1
23 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
24 scleroderma, familial progressive 9.9 COL1A2 COL1A1
25 caffey disease 9.9 COL1A2 COL1A1
26 osteogenesis imperfecta, type i 9.9 COL1A2 COL1A1
27 osteogenesis imperfecta, type iv 9.9 COL1A2 COL1A1
28 otosclerosis 9.9 COL1A2 COL1A1
29 dentinogenesis imperfecta 9.8 COL1A2 COL1A1
30 osteogenesis imperfecta, type ii 9.8 COL1A2 COL1A1
31 osteogenesis imperfecta, type iii 9.8 COL1A2 COL1A1
32 bruck syndrome 9.8 COL1A2 COL1A1
33 pelvic organ prolapse 9.7 COL3A1 COL1A1
34 bone development disease 9.7 COL1A2 COL1A1
35 lipoblastoma 9.7 COL3A1 COL1A2
36 classic ehlers-danlos syndrome 9.5 COL5A2 COL1A2 COL1A1
37 intracranial aneurysm 9.4 COL3A1 COL1A2
38 loeys-dietz syndrome 9.4 COL5A2 COL3A1
39 ehlers-danlos syndrome, classic type, 2 9.3 COL5A2 COL3A1 COL1A1
40 spondyloepiphyseal dysplasia congenita 9.2 COL3A1 COL1A2 COL1A1
41 brittle bone disorder 9.2 COL3A1 COL1A2 COL1A1
42 marfan syndrome 9.2 COL5A2 COL3A1 COL1A2
43 connective tissue disease 9.2 COL3A1 COL1A2 COL1A1
44 pfeiffer syndrome 9.2 COL3A1 COL1A1
45 ehlers-danlos syndrome, classic type, 1 8.8 COL5A2 COL3A1 COL1A2 COL1A1
46 ehlers-danlos syndrome 8.8 COL5A2 COL3A1 COL1A2 COL1A1
47 collagen disease 8.8 COL5A2 COL3A1 COL1A2 COL1A1

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



Diseases related to Larsen-Like Syndrome
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Symptoms & Phenotypes for Larsen-Like Syndrome

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Human phenotypes related to Larsen-Like Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
3 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
6 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
7 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
8 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
9 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
10 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
13 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
14 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
15 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
16 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
17 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
18 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
19 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
20 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671
21 macrocephaly 32 HP:0000256
22 malar flattening 32 HP:0000272
23 hypertelorism 32 HP:0000316
24 low-set ears 32 HP:0000369
25 joint dislocation 32 HP:0001373
26 frontal bossing 32 HP:0002007
27 muscular hypotonia 32 HP:0001252
28 dental malocclusion 32 HP:0000689
29 delayed skeletal maturation 32 HP:0002750
30 brachycephaly 32 HP:0000248
31 prominent forehead 32 HP:0011220
32 abnormality of metabolism/homeostasis 32 HP:0001939
33 cleft palate 32 HP:0000175
34 generalized hypotonia 32 HP:0001290
35 flat face 32 HP:0012368
36 recurrent otitis media 32 HP:0000403
37 joint laxity 32 HP:0001388
38 talipes equinovarus 32 HP:0001762
39 kyphoscoliosis 32 HP:0002751
40 abnormality of the cardiac septa 59 Occasional (29-5%)
41 conductive hearing impairment 32 HP:0000405
42 abnormality of pelvic girdle bone morphology 59 Very frequent (99-80%)
43 wide anterior fontanel 32 HP:0000260
44 absent nasal bridge 32 HP:0005285
45 radial deviation of the 4th finger 32 HP:0009279
46 bipartite calcaneus 32 HP:0008127

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
brachycephaly
large anterior fontanel

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

Head And Neck Face:
prominent forehead
flat face

Skeletal Spine:
kyphoscoliosis

Skeletal Feet:
clubfoot
double calcaneal ossification center

Neurologic:
hypotonia

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

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

Head And Neck Eyes:
hypertelorism

Growth Height:
short stature

Head And Neck Mouth:
cleft palate

Head And Neck Nose:
absent nasal bridge

Neurologic Central Nervous System:
developmental delay

Head And Neck Teeth:
malocclusion

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

Clinical features from OMIM:

608545

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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Anatomical Context for Larsen-Like Syndrome

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MalaCards organs/tissues related to Larsen-Like Syndrome:

41
Bone, Brain, Tongue
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Publications for Larsen-Like Syndrome

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Articles related to Larsen-Like Syndrome:

(show all 11)
# 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. 38 8
12784294 2003
2
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. 8
1916762 1991
3
Antioxidant efficacy and the upregulation of Nrf2-mediated HO-1 expression by (+)-lariciresinol, a lignan isolated from Rubia philippinensis, through the activation of p38. 38
28378774 2017
4
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. 38
25893793 2015
5
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 38
21763480 2011
6
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. 38
19014058 2008
7
Delineation of two distinct 6p deletion syndromes. 38
10071194 1999
8
Brain dysplasia associated with Larsen-like syndrome. 38
8652025 1996
9
Glaucoma with a Larsen-like syndrome. 38
7749667 1994
10
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 38
1640425 1992
11
A lethal, Larsen-like multiple joint dislocation syndrome. 38
7137228 1982
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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
Integrin Pathway 64
Show member pathways
 13.01 COL5A2 COL3A1 COL1A2 COL1A1
2
Phospholipase-C Pathway 64
Show member pathways
 12.73 COL5A2 COL3A1 COL1A2 COL1A1
3
Circadian entrainment 37
Show member pathways
 12.65 COL3A1 COL1A2 COL1A1
4
Focal Adhesion 37 1
Show member pathways
 12.59 COL5A2 COL3A1 COL1A2 COL1A1
5
Collagen chain trimerization 66
Show member pathways
 12.48 COL5A2 COL3A1 COL1A2 COL1A1
6
Degradation of the extracellular matrix 66
Show member pathways
 12.28 COL5A2 COL3A1 COL1A2 COL1A1
7
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.92 COL5A2 COL3A1 COL1A2 COL1A1
8
ECM-receptor interaction 37
Show member pathways
 11.8 COL1A2 COL1A1
9
Platelet activation 37
11.76 COL3A1 COL1A2 COL1A1
10
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.63 COL3A1 COL1A2 COL1A1
11
Senescence and Autophagy in Cancer 1
11.62 COL3A1 COL1A1
12
AGE-RAGE signaling pathway in diabetic complications 37
11.58 COL3A1 COL1A2 COL1A1
13
Amoebiasis 37
11.55 COL3A1 COL1A2 COL1A1
14
IL4-mediated signaling events 1
11.39 COL1A2 COL1A1
15
Endothelins 1
11.31 COL3A1 COL1A2
16
Cell adhesion_ECM remodeling 22
11.22 COL3A1 COL1A2 COL1A1
17
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.17 COL1A2 COL1A1
18
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.15 COL1A2 COL1A1
19
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.04 COL3A1 COL1A2 COL1A1
20
VEGFR3 signaling in lymphatic endothelium 1
10.91 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
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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 region GO:0005576 9.71 COL5A2 COL3A1 COL1A2 COL1A1
2 extracellular space GO:0005615 9.67 COL5A2 COL3A1 COL1A2 COL1A1
3 extracellular matrix GO:0031012 9.62 COL5A2 COL3A1 COL1A2 COL1A1
4 endoplasmic reticulum lumen GO:0005788 9.56 COL5A2 COL3A1 COL1A2 COL1A1
5 collagen-containing extracellular matrix GO:0062023 9.46 COL5A2 COL3A1 COL1A2 COL1A1
6 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1
7 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 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.65 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 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 COL3A1 COL1A2
5 blood vessel development GO:0001568 9.54 COL3A1 COL1A2 COL1A1
6 wound healing GO:0042060 9.52 COL3A1 COL1A1
7 ossification GO:0001503 9.51 COL5A2 COL1A1
8 skin development GO:0043588 9.5 COL5A2 COL3A1 COL1A1
9 response to mechanical stimulus GO:0009612 9.49 COL3A1 COL1A1
10 protein heterotrimerization GO:0070208 9.46 COL1A2 COL1A1
11 skeletal system development GO:0001501 9.46 COL5A2 COL3A1 COL1A2 COL1A1
12 skin morphogenesis GO:0043589 9.43 COL1A2 COL1A1
13 cellular response to amino acid stimulus GO:0071230 9.26 COL5A2 COL3A1 COL1A2 COL1A1
14 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
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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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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