MCID: LRS002
MIFTS: 39

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, craniofacial dysmorphism, with or without congenital heart defects, and has symptoms including short stature, scoliosis and strabismus. 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 phenotype is integument.

Description from OMIM: 608545

Related Diseases for Larsen-Like Syndrome

Diseases in the Larsen Syndrome family:

Larsen-Like Syndrome Larsen Syndrome, Autosomal Recessive

Diseases related to Larsen-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
id Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.1
2 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 11.3
3 aggressive periodontitis 10.2 COL1A1 COL5A2
4 eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.2 COL1A1 COL5A2
5 congenital erosive and vesicular dermatosis 10.1 COL1A1 COL1A2
6 cln12 disease 10.1 COL1A1 COL1A2
7 carbonic anhydrase va deficiency 10.1 COL1A1 COL1A2
8 prpf3-related retinitis pigmentosa 10.1 COL1A1 COL1A2
9 pens syndrome 10.1 COL1A1 COL1A2
10 pfn1-related amyotrophic lateral sclerosis 10.1 COL1A1 COL1A2
11 epilepsy with neurodevelopmental defects 10.1 COL1A1 COL1A2
12 osteogenesis imperfecta, type viii 10.1 COL1A1 COL1A2
13 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2
14 human herpesvirus 8 10.0 COL1A1 COL1A2
15 pontocerebellar hypoplasia, type 2e 10.0 COL1A1 COL1A2
16 immunodeficiency 39 10.0 COL1A1 COL1A2
17 mental retardation, autosomal recessive 35 10.0 COL1A1 COL1A2
18 physical urticaria 10.0 COL1A1 COL1A2
19 osteogenesis imperfecta, type iii 10.0 COL1A1 COL1A2
20 diabetic foot ulcers 10.0 COL1A1 COL1A2
21 splenic flexure cancer 9.9 COL1A1 COL1A2
22 carnitine palmitoyltransferase ii deficiency 9.9 COL1A1 COL1A2
23 ehlers-danlos syndrome, cardiac valvular form 9.9 COL1A1 COL1A2
24 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
25 caffey disease 9.8 COL1A1 COL1A2
26 staphyloma posticum 9.8 COL3A1 COL5A2
27 ischemic bone disease 9.8 COL1A1 COL1A2
28 lipoic acid biosynthesis defects 9.7 COL1A2 COL3A1
29 sclerosteosis 9.7 COL1A1 COL1A2
30 fg syndrome 5 9.6 COL1A1 COL1A2
31 strongyloidiasis 9.4 COL1A2 COL3A1
32 prostatocystitis 9.4 COL1A1 COL1A2
33 sulfite oxidase deficiency 9.3 COL1A1 COL1A2 COL3A1
34 vaginal spindle cell epithelioma 9.2 COL1A1 COL1A2 COL3A1
35 muscle hypertrophy 8.8 COL1A1 COL1A2 COL3A1 COL5A2
36 chronic fatigue syndrome 8.8 COL1A1 COL1A2 COL3A1 COL5A2
37 tinea manuum 8.8 COL1A1 COL1A2 COL3A1 COL5A2
38 deafness, autosomal recessive 91 8.3 COL1A1 COL1A2 COL3A1 COL5A2 LRSL

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:

54

Growth- Height:
short stature

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

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

Head And Neck- Eyes:
hypertelorism

Skeletal- Spine:
kyphoscoliosis

Head And Neck- Teeth:
malocclusion

Head And Neck- Nose:
absent nasal bridge

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

Neurologic:
hypotonia

Neurologic- Central Nervous System:
developmental delay

Head And Neck- Face:
prominent forehead
flat face

Head And Neck- Mouth:
cleft palate

Head And Neck- Head:
macrocephaly
brachycephaly
large anterior fontanel

Skeletal- Feet:
clubfoot
double calcaneal ossification center

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


Clinical features from OMIM:

608545

Human phenotypes related to Larsen-Like Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
5 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
6 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
7 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
9 low-set, posteriorly rotated ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000368
10 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
11 hip dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001385
12 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
13 narrow mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000160
14 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
15 reduced bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004349
16 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
17 abnormality of the metacarpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0001163
18 abnormality of the cardiac septa 56 32 occasional (7.5%) Occasional (29-5%) HP:0001671
19 brachydactyly 32 hallmark (90%) HP:0001156
20 low-set ears 32 HP:0000369
21 prominent forehead 32 HP:0011220
22 hypertelorism 32 HP:0000316
23 joint laxity 32 HP:0001388
24 cleft palate 32 HP:0000175
25 kyphoscoliosis 32 HP:0002751
26 frontal bossing 32 HP:0002007
27 talipes equinovarus 32 HP:0001762
28 macrocephaly 32 HP:0000256
29 brachycephaly 32 HP:0000248
30 wide anterior fontanel 32 HP:0000260
31 flat face 32 HP:0012368
32 muscular hypotonia 32 HP:0001252
33 dental malocclusion 32 HP:0000689
34 delayed skeletal maturation 32 HP:0002750
35 malar flattening 32 HP:0000272
36 recurrent otitis media 32 HP:0000403
37 absent nasal bridge 32 HP:0005285
38 joint dislocation 32 HP:0001373
39 abnormality of metabolism/homeostasis 32 HP:0001939
40 abnormality of the metaphyses 56 Very frequent (99-80%)
41 conductive hearing impairment 32 HP:0000405
42 brachydactyly syndrome 56 Very frequent (99-80%)
43 abnormality of pelvic girdle bone morphology 56 Very frequent (99-80%)
44 radial deviation of the 4th finger 32 HP:0009279
45 bipartite calcaneus 32 HP:0008127
46 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

MGI Mouse Phenotypes related to Larsen-Like Syndrome:

44
id 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:

39
Bone, Brain, Tongue

Publications for Larsen-Like Syndrome

Articles related to Larsen-Like Syndrome:

id 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 20)
id 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
12.56 COL1A1 COL1A2 COL3A1 COL5A2
4
Show member pathways
12.48 COL1A1 COL1A2 COL3A1 COL5A2
5
Show member pathways
12.28 COL1A1 COL1A2 COL3A1 COL5A2
6
Show member pathways
11.77 COL1A1 COL1A2
7 11.74 COL1A1 COL1A2 COL3A1
8
Show member pathways
11.63 COL1A1 COL1A2 COL3A1
9 11.61 COL1A1 COL3A1
10 11.58 COL1A1 COL1A2 COL3A1
11 11.53 COL1A1 COL1A2 COL3A1
12 11.38 COL1A1 COL1A2
13 11.28 COL1A2 COL3A1
14 11.22 COL1A1 COL1A2 COL3A1
15 11.15 COL1A1 COL1A2
16 11.13 COL1A1 COL1A2
17 11.04 COL1A1 COL1A2 COL3A1
18 10.89 COL1A1 COL1A2
19 10.77 COL1A2 COL3A1 COL5A2
20 10.32 COL1A1 COL1A2 COL3A1

GO Terms for Larsen-Like Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.67 COL1A1 COL1A2 COL3A1 COL5A2
2 proteinaceous extracellular matrix GO:0005578 9.62 COL1A1 COL1A2 COL3A1 COL5A2
3 extracellular matrix GO:0031012 9.56 COL1A1 COL1A2 COL3A1 COL5A2
4 endoplasmic reticulum lumen GO:0005788 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 15)
id 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 wound healing GO:0042060 9.55 COL1A1 COL3A1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 COL1A2 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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