LRSL
MCID: LRS002
MIFTS: 42

Larsen-Like Syndrome (LRSL)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Larsen-Like Syndrome

Summaries for Larsen-Like Syndrome

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 reunion island larsen-like syndrome. 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

Description from OMIM: 608545

Related Diseases for Larsen-Like Syndrome

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 reunion island larsen-like syndrome 12.3
3 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.6
4 trisomy 1q 11.1
5 cleft tongue 10.1
6 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
7 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
8 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
9 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
10 osteogenesis imperfecta, type v 10.0 COL1A1 COL1A2
11 scleroderma, familial progressive 10.0 COL1A1 COL1A2
12 caffey disease 9.9 COL1A1 COL1A2
13 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
14 osteogenesis imperfecta, type i 9.9 COL1A1 COL1A2
15 otosclerosis 9.9 COL1A1 COL1A2
16 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
17 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
18 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
19 bruck syndrome 9.9 COL1A1 COL1A2
20 pelvic organ prolapse 9.8 COL1A1 COL3A1
21 bone development disease 9.8 COL1A1 COL1A2
22 lipoblastoma 9.8 COL1A2 COL3A1
23 classic ehlers-danlos syndrome 9.7 COL1A1 COL1A2 COL5A2
24 intracranial aneurysm 9.6 COL1A2 COL3A1
25 loeys-dietz syndrome 9.6 COL3A1 COL5A2
26 ehlers-danlos syndrome, classic type, 2 9.6 COL1A1 COL3A1 COL5A2
27 spondyloepiphyseal dysplasia congenita 9.5 COL1A1 COL1A2 COL3A1
28 brittle bone disorder 9.5 COL1A1 COL1A2 COL3A1
29 marfan syndrome 9.5 COL1A2 COL3A1 COL5A2
30 pfeiffer syndrome 9.5 COL1A1 COL3A1
31 connective tissue disease 9.5 COL1A1 COL1A2 COL3A1
32 ehlers-danlos syndrome, classic type, 1 9.2 COL1A1 COL1A2 COL3A1 COL5A2
33 ehlers-danlos syndrome 9.2 COL1A1 COL1A2 COL3A1 COL5A2
34 collagen disease 9.2 COL1A1 COL1A2 COL3A1 COL5A2

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



Diseases related to Larsen-Like Syndrome

Symptoms & Phenotypes for Larsen-Like Syndrome

Human phenotypes related to Larsen-Like Syndrome:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 hip dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001385
3 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
6 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
7 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
8 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
9 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
10 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
11 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
12 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
13 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
14 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
15 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
16 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
17 low-set, posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000368
18 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
19 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
20 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
21 macrocephaly 33 HP:0000256
22 malar flattening 33 HP:0000272
23 hypertelorism 33 HP:0000316
24 low-set ears 33 HP:0000369
25 joint dislocation 33 HP:0001373
26 frontal bossing 33 HP:0002007
27 muscular hypotonia 33 HP:0001252
28 dental malocclusion 33 HP:0000689
29 delayed skeletal maturation 33 HP:0002750
30 brachycephaly 33 HP:0000248
31 prominent forehead 33 HP:0011220
32 abnormality of metabolism/homeostasis 33 HP:0001939
33 cleft palate 33 HP:0000175
34 flat face 33 HP:0012368
35 recurrent otitis media 33 HP:0000403
36 joint laxity 33 HP:0001388
37 talipes equinovarus 33 HP:0001762
38 kyphoscoliosis 33 HP:0002751
39 conductive hearing impairment 33 HP:0000405
40 abnormality of the cardiac septa 60 Occasional (29-5%)
41 abnormality of pelvic girdle bone morphology 60 Very frequent (99-80%)
42 wide anterior fontanel 33 HP:0000260
43 generalized hypotonia 33 HP:0001290
44 absent nasal bridge 33 HP:0005285
45 radial deviation of the 4th finger 33 HP:0009279
46 bipartite calcaneus 33 HP:0008127

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COL1A1 COL1A2 COL3A1 COL5A2

Drugs & Therapeutics for Larsen-Like Syndrome

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

Genetic Tests for Larsen-Like Syndrome

Anatomical Context for Larsen-Like Syndrome

MalaCards organs/tissues related to Larsen-Like Syndrome:

42
Bone, Brain, Tongue

Publications for Larsen-Like Syndrome

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

Variations for Larsen-Like Syndrome

Expression for Larsen-Like Syndrome

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

Pathways for Larsen-Like Syndrome

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 COL1A1 COL1A2 COL3A1 COL5A2
2
Show member pathways
12.74 COL1A1 COL1A2 COL3A1 COL5A2
3
Show member pathways
12.59 COL1A1 COL1A2 COL3A1 COL5A2
4
Show member pathways
12.5 COL1A1 COL1A2 COL3A1 COL5A2
5
Show member pathways
12.39 COL1A1 COL1A2 COL3A1 COL5A2
6
Show member pathways
11.92 COL1A1 COL1A2 COL3A1 COL5A2
7 11.73 COL1A1 COL1A2 COL3A1
8 11.62 COL1A1 COL3A1
9
Show member pathways
11.6 COL1A1 COL1A2 COL3A1
10 11.54 COL1A1 COL1A2 COL3A1
11 11.48 COL1A1 COL1A2 COL3A1
12 11.38 COL1A1 COL1A2
13 11.3 COL1A2 COL3A1
14 11.22 COL1A1 COL1A2 COL3A1
15 11.17 COL1A1 COL1A2
16 11.15 COL1A1 COL1A2
17 11.04 COL1A1 COL1A2 COL3A1
18 10.9 COL1A1 COL1A2
19 10.77 COL1A2 COL3A1 COL5A2
20 10.7 COL1A1 COL1A2 COL3A1 COL5A2
21 10.32 COL1A1 COL1A2 COL3A1

GO Terms for Larsen-Like Syndrome

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 for Larsen-Like Syndrome

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
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