MCID: LRS002
MIFTS: 42

Larsen-Like Syndrome

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

Aliases & Classifications for Larsen-Like Syndrome

MalaCards integrated aliases for Larsen-Like Syndrome:

Name: Larsen-Like Syndrome 53 49 13 69
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 55
Larsen-Like Multiple Joint Dislocation Syndrome 49
Larsen-Like Syndrome, Lethal Type 49
Lrsl 53

Characteristics:

OMIM:

53
Inheritance:
isolated cases


HPO:

31
larsen-like syndrome:
Inheritance sporadic


Classifications:



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, and has symptoms including scoliosis, global developmental delay and hip dysplasia. 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

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 12.2
2 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.4
3 trisomy 1q 10.9
4 type i ehlers-danlos syndrome 10.1 COL1A1 COL5A2
5 ehlers-danlos syndrome type 2 10.1 COL1A1 COL5A2
6 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
7 ehlers-danlos syndrome, arthrochalasia type, 1 10.0 COL1A1 COL1A2
8 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
9 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
10 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
11 osteogenesis imperfecta, type vi 10.0 COL1A1 COL1A2
12 scleroderma, familial progressive 10.0 COL1A1 COL1A2
13 caffey disease 10.0 COL1A1 COL1A2
14 osteogenesis imperfecta, type v 9.9 COL1A1 COL1A2
15 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
16 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
17 bruck syndrome 9.9 COL1A1 COL1A2
18 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
19 osteogenesis imperfecta, type i 9.9 COL1A1 COL1A2
20 osteogenesis imperfecta, type iii 9.8 COL1A1 COL1A2
21 bone development disease 9.8 COL1A1 COL1A2
22 hypermobility syndrome 9.8 COL3A1 COL5A2
23 pelvic organ prolapse 9.8 COL1A1 COL3A1
24 lipoblastoma 9.8 COL1A2 COL3A1
25 otosclerosis 9.7 COL1A1 COL1A2
26 pfeiffer syndrome 9.6 COL1A1 COL3A1
27 intracranial aneurysm 9.6 COL1A2 COL3A1
28 scoliosis 9.5 COL1A1 COL1A2
29 spondyloepiphyseal dysplasia congenita 9.4 COL1A1 COL1A2 COL3A1
30 brittle bone disorder 9.4 COL1A1 COL1A2 COL3A1
31 connective tissue disease 9.4 COL1A1 COL1A2 COL3A1
32 ehlers-danlos syndrome, classic type, 1 9.0 COL1A1 COL1A2 COL3A1 COL5A2
33 collagen disease 9.0 COL1A1 COL1A2 COL3A1 COL5A2
34 ehlers-danlos syndrome 9.0 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:

53
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:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
3 hip dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001385
4 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
6 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
7 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
9 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
11 reduced bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004349
12 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
13 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
14 abnormality of the metacarpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0001163
15 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
16 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
17 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
18 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
19 thin vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0000233
20 joint laxity 31 HP:0001388
21 macrocephaly 31 HP:0000256
22 malar flattening 31 HP:0000272
23 hypertelorism 31 HP:0000316
24 low-set ears 31 HP:0000369
25 joint dislocation 31 HP:0001373
26 frontal bossing 31 HP:0002007
27 dental malocclusion 31 HP:0000689
28 delayed skeletal maturation 31 HP:0002750
29 brachycephaly 31 HP:0000248
30 prominent forehead 31 HP:0011220
31 abnormality of metabolism/homeostasis 31 HP:0001939
32 cleft palate 31 HP:0000175
33 flat face 31 HP:0012368
34 recurrent otitis media 31 HP:0000403
35 conductive hearing impairment 31 HP:0000405
36 talipes equinovarus 31 HP:0001762
37 abnormality of the cardiac septa 55 Occasional (29-5%)
38 abnormality of pelvic girdle bone morphology 55 Very frequent (99-80%)
39 wide anterior fontanel 31 HP:0000260
40 kyphoscoliosis 31 HP:0002751
41 generalized hypotonia 31 HP:0001290
42 absent nasal bridge 31 HP:0005285
43 abnormal cardiac septum morphology 31 occasional (7.5%) HP:0001671
44 radial deviation of the 4th finger 31 HP:0009279
45 bipartite calcaneus 31 HP:0008127

MGI Mouse Phenotypes related to Larsen-Like Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COL5A2 COL1A1 COL1A2 COL3A1

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:

38
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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 COL1A1 COL1A2 COL3A1 COL5A2
2
Show member pathways
12.73 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
12.28 COL1A1 COL1A2 COL3A1 COL5A2
6
Show member pathways
12.26 COL1A1 COL1A2 COL3A1
7
Show member pathways
11.84 COL1A1 COL1A2 COL3A1 COL5A2
8
Show member pathways
11.79 COL1A1 COL1A2
9 11.76 COL1A1 COL1A2 COL3A1
10
Show member pathways
11.65 COL1A1 COL1A2 COL3A1
11 11.63 COL1A1 COL3A1
12 11.58 COL1A1 COL1A2 COL3A1
13 11.53 COL1A1 COL1A2 COL3A1
14 11.4 COL1A1 COL1A2
15 11.32 COL1A2 COL3A1
16 11.22 COL1A1 COL1A2 COL3A1
17 11.19 COL1A1 COL1A2
18 11.17 COL1A1 COL1A2
19 11.04 COL1A1 COL1A2 COL3A1
20 10.91 COL1A1 COL1A2
21 10.77 COL1A2 COL3A1 COL5A2
22 10.71 COL1A1 COL1A2 COL3A1 COL5A2
23 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 proteinaceous extracellular matrix GO:0005578 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)
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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