MCID: LRS002
MIFTS: 37

Larsen-Like Syndrome malady

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

Aliases & Classifications for Larsen-Like Syndrome

Aliases & Descriptions for Larsen-Like Syndrome:

Name: Larsen-Like Syndrome 54 50 13
Larsen-Like Osseous Dysplasia-Short Stature Syndrome 56
Larsen-Like Multiple Joint Dislocation Syndrome 50
Larsen-Like Syndrome, Lethal Type 50

Characteristics:

HPO:

32
larsen-like syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 608545
Orphanet 56 ORPHA2370
ICD10 via Orphanet 34 Q74.8

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, and 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, tongue and brain, 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 39)
id Related Disease Score Top Affiliating Genes
1 larsen-like syndrome, lethal type 12.1
2 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 11.3
3 aggressive periodontitis 10.1 COL1A1 COL5A2
4 eng-related hereditary hemorrhagic telangiectasia 10.1 COL1A1 COL5A2
5 cngb3-related stargardt disease 1 10.1 COL1A1 COL1A2
6 isolated lissencephaly type 1 without known genetic defects 10.1 COL1A1 COL1A2
7 charcot-marie-tooth neuropathy type 2a 10.1 COL1A1 COL1A2
8 prph2-related retinitis pigmentosa 10.1 COL1A1 COL1A2
9 20p13 microdeletion syndrome 10.1 COL1A1 COL1A2
10 phyh-related refsum disease 10.1 COL1A1 COL1A2
11 epileptic encephalopathy, early infantile, 36 10.1 COL1A1 COL1A2
12 porphyria cutanea tarda 10.1 COL1A1 COL1A2
13 human herpesvirus 8 10.0 COL1A1 COL1A2
14 osteogenesis imperfecta, type iii 10.0 COL1A1 COL1A2
15 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.0 COL1A1 COL1A2
16 autism susceptibility 16 10.0 COL1A1 COL1A2
17 long qt syndrome 1 10.0 COL1A1 COL1A2
18 diabetic neuropathy 10.0 COL1A1 COL1A2
19 ceroid lipofuscinosis, neuronal, 11 10.0 COL1A1 COL1A2
20 agraphia 10.0 COL1A1 COL1A2
21 xanthinuria 10.0 COL1A1 COL1A2
22 deafness, autosomal recessive 61 10.0 COL1A1 COL1A2
23 splenic flexure cancer 10.0 COL1A1 COL1A2
24 mental retardation, autosomal recessive 35 10.0 COL1A1 COL1A2
25 osteogenesis imperfecta, type ii 10.0 COL1A1 COL1A2
26 staphyloma posticum 10.0 COL3A1 COL5A2
27 ehlers-danlos syndrome, cardiac valvular form 9.9 COL1A1 COL1A2
28 localized hypertrophic neuropathy 9.9 COL1A2 COL3A1
29 bone structure disease 9.9 COL1A1 COL1A2
30 prostatocystitis 9.9 COL1A1 COL1A2
31 cholesteatoma of attic 9.8 COL1A2 COL3A1
32 hypogonadotropic hypogonadism 2 with or without anosmia 9.8 COL1A1 COL3A1
33 sclerocornea 9.8 COL1A1 COL1A2
34 neuropathy, distal hereditary motor, type iia 9.8 COL1A1 COL1A2 COL3A1
35 clivus meningioma 9.7 COL1A1 COL1A2 COL3A1
36 muscle hypertrophy 9.6 COL1A1 COL1A2 COL3A1 COL5A2
37 herpes simplex 9.5 COL1A1 COL1A2 COL3A1 COL5A2
38 tinea manuum 9.5 COL1A1 COL1A2 COL3A1 COL5A2
39 factor xiiia deficiency 9.4 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 by clinical synopsis from OMIM:

608545

Clinical features from OMIM:

608545

Human phenotypes related to Larsen-Like Syndrome:

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

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, Tongue, Brain

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 ossification GO:0001503 9.54 COL1A1 COL5A2
8 skin development GO:0043588 9.54 COL1A1 COL3A1 COL5A2
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.52 COL1A2 COL3A1
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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