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LRSL
MCID: LRS002
MIFTS: 43

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 73
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


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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 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 Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, brain and tongue, and related phenotypes are scoliosis and global developmental delay

Description 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 34)
# Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.4
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.6
3 trisomy 1q 11.1
4 cleft tongue 10.0
5 lipoblastoma 10.0 COL1A2 COL3A1
6 intracranial aneurysm 9.9 COL1A2 COL3A1
7 ehlers-danlos/osteogenesis imperfecta syndrome 9.9 COL1A1 COL1A2
8 high bone mass osteogenesis imperfecta 9.9 COL1A1 COL1A2
9 osteogenesis imperfecta, type vii 9.9 COL1A1 COL1A2
10 osteogenesis imperfecta, type viii 9.9 COL1A1 COL1A2
11 osteogenesis imperfecta, type v 9.9 COL1A1 COL1A2
12 scleroderma, familial progressive 9.9 COL1A1 COL1A2
13 caffey disease 9.9 COL1A1 COL1A2
14 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
15 osteogenesis imperfecta, type i 9.9 COL1A1 COL1A2
16 loeys-dietz syndrome 9.9 COL3A1 COL5A2
17 pelvic organ prolapse 9.9 COL1A1 COL3A1
18 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
19 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
20 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
21 bruck syndrome 9.9 COL1A1 COL1A2
22 bone development disease 9.8 COL1A1 COL1A2
23 marfan syndrome 9.8 COL1A2 COL3A1 COL5A2
24 osteochondrodysplasia 9.8 COL1A1 COL1A2
25 pfeiffer syndrome 9.8 COL1A1 COL3A1
26 spondyloepiphyseal dysplasia congenita 9.7 COL1A1 COL1A2 COL3A1
27 brittle bone disorder 9.7 COL1A1 COL1A2 COL3A1
28 connective tissue disease 9.7 COL1A1 COL1A2 COL3A1
29 ehlers-danlos syndrome, classic type, 2 9.7 COL1A1 COL3A1 COL5A2
30 classic ehlers-danlos syndrome 9.7 COL1A1 COL1A2 COL5A2
31 otosclerosis 9.7 COL1A1 COL1A2
32 ehlers-danlos syndrome, classic type, 1 9.5 COL1A1 COL1A2 COL3A1 COL5A2
33 ehlers-danlos syndrome 9.5 COL1A1 COL1A2 COL3A1 COL5A2
34 collagen disease 9.5 COL1A1 COL1A2 COL3A1 COL5A2

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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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

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

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, Heart
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Publications for Larsen-Like Syndrome

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Articles related to Larsen-Like Syndrome:

# Title Authors Year
1
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. ( 19014058 )
2008
2
Brain dysplasia associated with Larsen-like syndrome. ( 8652025 )
1996
3
Glaucoma with a Larsen-like syndrome. ( 7749667 )
1994
4
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. ( 1640425 )
1992
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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 21)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 64
Show member pathways
 13.03 COL1A1 COL1A2 COL3A1 COL5A2
2
Phospholipase-C Pathway 64
Show member pathways
 12.73 COL1A1 COL1A2 COL3A1 COL5A2
3
Focal Adhesion 1 37
Show member pathways
 12.59 COL1A1 COL1A2 COL3A1 COL5A2
4
Collagen chain trimerization 66
Show member pathways
 12.5 COL1A1 COL1A2 COL3A1 COL5A2
5
Degradation of the extracellular matrix 66
Show member pathways
 12.39 COL1A1 COL1A2 COL3A1 COL5A2
6
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.92 COL1A1 COL1A2 COL3A1 COL5A2
7
Platelet activation 37
11.72 COL1A1 COL1A2 COL3A1
8
Senescence and Autophagy in Cancer 1
11.62 COL1A1 COL3A1
9
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.6 COL1A1 COL1A2 COL3A1
10
AGE-RAGE signaling pathway in diabetic complications 37
11.54 COL1A1 COL1A2 COL3A1
11
Amoebiasis 37
11.48 COL1A1 COL1A2 COL3A1
12
IL4-mediated signaling events 1
11.38 COL1A1 COL1A2
13
Endothelins 1
11.3 COL1A2 COL3A1
14
Cell adhesion_ECM remodeling 22
11.22 COL1A1 COL1A2 COL3A1
15
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.17 COL1A1 COL1A2
16
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.15 COL1A1 COL1A2
17
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.04 COL1A1 COL1A2 COL3A1
18
VEGFR3 signaling in lymphatic endothelium 1
10.91 COL1A1 COL1A2
19
miRNA targets in ECM and membrane receptors 1
10.77 COL1A2 COL3A1 COL5A2
20
G-protein signaling_Rap2B regulation pathway 22
10.7 COL1A1 COL1A2 COL3A1 COL5A2
21
Inflammatory Response Pathway 1
10.32 COL1A1 COL1A2 COL3A1
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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 space GO:0005615 9.67 COL1A1 COL1A2 COL3A1 COL5A2
2 extracellular matrix GO:0031012 9.62 COL1A1 COL1A2 COL3A1 COL5A2
3 endoplasmic reticulum lumen GO:0005788 9.56 COL1A1 COL1A2 COL3A1 COL5A2
4 collagen-containing extracellular matrix GO:0062023 9.46 COL1A1 COL1A2 COL3A1 COL5A2
5 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2
6 collagen trimer GO:0005581 8.92 COL1A1 COL1A2 COL3A1 COL5A2

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 COL1A1 COL1A2 COL3A1
2 platelet activation GO:0030168 9.58 COL1A1 COL1A2 COL3A1
3 extracellular matrix organization GO:0030198 9.56 COL1A1 COL1A2 COL3A1 COL5A2
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 COL1A2 COL3A1
5 blood vessel development GO:0001568 9.54 COL1A1 COL1A2 COL3A1
6 wound healing GO:0042060 9.52 COL1A1 COL3A1
7 ossification GO:0001503 9.51 COL1A1 COL5A2
8 skin development GO:0043588 9.5 COL1A1 COL3A1 COL5A2
9 response to mechanical stimulus GO:0009612 9.49 COL1A1 COL3A1
10 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
11 skeletal system development GO:0001501 9.46 COL1A1 COL1A2 COL3A1 COL5A2
12 skin morphogenesis GO:0043589 9.43 COL1A1 COL1A2
13 cellular response to amino acid stimulus GO:0071230 9.26 COL1A1 COL1A2 COL3A1 COL5A2
14 collagen fibril organization GO:0030199 8.92 COL1A1 COL1A2 COL3A1 COL5A2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.77 B3GAT3 COL1A1 COL1A2 COL3A1 COL5A2
2 protease binding GO:0002020 9.5 COL1A1 COL1A2 COL3A1
3 extracellular matrix structural constituent GO:0005201 9.46 COL1A1 COL1A2 COL3A1 COL5A2
4 SMAD binding GO:0046332 9.43 COL1A2 COL3A1 COL5A2
5 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL3A1
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL1A1 COL1A2 COL3A1 COL5A2
Sources

Sources for Larsen-Like Syndrome

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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
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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