MCID: LRS002
MIFTS: 42

Larsen-Like Syndrome

Categories: Rare diseases, Bone diseases, Fetal diseases, Genetic 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 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, tongue and brain, and related phenotypes are narrow mouth and thin vermilion border

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 36)
# Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.2
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.5
3 trisomy 1q 10.9
4 ehlers-danlos syndrome, classic type, 2 10.1 COL1A1 COL5A2
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
6 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
7 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
8 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
9 scleroderma, familial progressive 10.0 COL1A1 COL1A2
10 caffey disease 9.9 COL1A1 COL1A2
11 osteogenesis imperfecta, type v 9.9 COL1A1 COL1A2
12 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
13 cleft tongue 9.9
14 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
15 bruck syndrome 9.9 COL1A1 COL1A2
16 osteogenesis imperfecta, type ii 9.8 COL1A1 COL1A2
17 bone development disease 9.8 COL1A1 COL1A2
18 osteogenesis imperfecta, type iii 9.8 COL1A1 COL1A2
19 osteogenesis imperfecta, type i 9.8 COL1A1 COL1A2
20 ehlers-danlos syndrome, hypermobility type 9.8 COL1A1 COL3A1
21 hypermobility syndrome 9.7 COL3A1 COL5A2
22 pelvic organ prolapse 9.7 COL1A1 COL3A1
23 lipoblastoma 9.6 COL1A2 COL3A1
24 otosclerosis 9.5 COL1A1 COL1A2
25 ehlers-danlos syndrome, classic type 9.4 COL1A1 COL1A2 COL5A2
26 loeys-dietz syndrome 9.4 COL3A1 COL5A2
27 intracranial aneurysm 9.4 COL1A2 COL3A1
28 pfeiffer syndrome 9.3 COL1A1 COL3A1
29 scoliosis 9.2 COL1A1 COL1A2
30 spondyloepiphyseal dysplasia congenita 9.1 COL1A1 COL1A2 COL3A1
31 brittle bone disorder 9.1 COL1A1 COL1A2 COL3A1
32 marfan syndrome 9.0 COL1A2 COL3A1 COL5A2
33 connective tissue disease 9.0 COL1A1 COL1A2 COL3A1
34 ehlers-danlos syndrome, classic type, 1 8.5 COL1A1 COL1A2 COL3A1 COL5A2
35 collagen disease 8.5 COL1A1 COL1A2 COL3A1 COL5A2
36 ehlers-danlos syndrome 8.5 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

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

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

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:

41
Bone, Tongue, Brain

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
13.01 COL1A1 COL1A2 COL3A1 COL5A2
2
Show member pathways
12.7 COL1A1 COL1A2 COL3A1 COL5A2
3
Show member pathways
12.64 COL1A1 COL1A2 COL3A1
4
Show member pathways
12.56 COL1A1 COL1A2 COL3A1 COL5A2
5
Show member pathways
12.48 COL1A1 COL1A2 COL3A1 COL5A2
6
Show member pathways
12.28 COL1A1 COL1A2 COL3A1 COL5A2
7
Show member pathways
11.77 COL1A1 COL1A2
8 11.74 COL1A1 COL1A2 COL3A1
9
Show member pathways
11.63 COL1A1 COL1A2 COL3A1
10 11.61 COL1A1 COL3A1
11 11.58 COL1A1 COL1A2 COL3A1
12 11.53 COL1A1 COL1A2 COL3A1
13 11.38 COL1A1 COL1A2
14 11.28 COL1A2 COL3A1
15 11.22 COL1A1 COL1A2 COL3A1
16 11.15 COL1A1 COL1A2
17 11.13 COL1A1 COL1A2
18 11.04 COL1A1 COL1A2 COL3A1
19 10.89 COL1A1 COL1A2
20 10.77 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 region GO:0005576 9.67 COL1A1 COL1A2 COL3A1 COL5A2
2 extracellular space GO:0005615 9.62 COL1A1 COL1A2 COL3A1 COL5A2
3 endoplasmic reticulum lumen GO:0005788 9.56 COL1A1 COL1A2 COL3A1 COL5A2
4 extracellular matrix GO:0031012 9.26 COL1A1 COL1A2 COL3A1 COL5A2
5 collagen type I trimer GO:0005584 9.16 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 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.67 COL1A1 COL1A2 COL3A1
2 extracellular matrix organization GO:0030198 9.62 COL1A1 COL1A2 COL3A1 COL5A2
3 platelet activation GO:0030168 9.61 COL1A1 COL1A2 COL3A1
4 blood vessel development GO:0001568 9.58 COL1A1 COL1A2 COL3A1
5 skeletal system development GO:0001501 9.56 COL1A1 COL1A2 COL3A1 COL5A2
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 COL1A2 COL3A1
7 wound healing GO:0042060 9.54 COL1A1 COL3A1
8 skin development GO:0043588 9.54 COL1A1 COL3A1 COL5A2
9 ossification GO:0001503 9.52 COL1A1 COL5A2
10 response to mechanical stimulus GO:0009612 9.51 COL1A1 COL3A1
11 protein heterotrimerization GO:0070208 9.48 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 9.46 COL1A1 COL1A2
13 collagen catabolic process GO:0030574 9.46 COL1A1 COL1A2 COL3A1 COL5A2
14 cellular response to amino acid stimulus GO:0071230 9.26 COL1A1 COL1A2 COL3A1 COL5A2
15 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 protease binding GO:0002020 9.43 COL1A1 COL1A2 COL3A1
2 SMAD binding GO:0046332 9.33 COL1A2 COL3A1 COL5A2
3 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL3A1
4 extracellular matrix structural constituent GO:0005201 8.92 COL1A1 COL1A2 COL3A1 COL5A2

Sources for Larsen-Like Syndrome

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
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