Larsen-Like Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Larsen-Like Syndrome

MalaCards integrated aliases for Larsen-Like Syndrome:

Name: Larsen-Like Syndrome ⁵⁷ ¹⁹ ¹² ⁷¹

Larsen-Like Osseous Dysplasia-Short Stature Syndrome ⁵⁸ ²⁸

Larsen-Like Multiple Joint Dislocation Syndrome ¹⁹

Larsen-Like Syndrome, Lethal Type ¹⁹

Lrsl ⁵⁷

Characteristics:

Inheritance:

Isolated cases ⁵⁷

Prevelance:

Larsen-Like Osseous Dysplasia-Short Stature Syndrome: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Larsen-Like Osseous Dysplasia-Short Stature Syndrome: Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Respiratory diseases Smell/Taste diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Other specified congenital malformations of limb(s)

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

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Summaries for Larsen-Like Syndrome

Orphanet: ⁵⁸ Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.

MalaCards based summary: Larsen-Like Syndrome, also known as larsen-like osseous dysplasia-short stature syndrome, is related to larsen-like syndrome b3gat3 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). Affiliated tissues include bone, tongue and heart, and related phenotypes are scoliosis and skeletal dysplasia

GARD: ¹⁹ A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.

More information from OMIM: 608545

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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 17)

#	Related Disease	Score
1	larsen-like syndrome b3gat3 type	11.7
2	multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects	11.4
3	larsen-like syndrome, lethal type	11.4
4	tracheomalacia	10.3
5	connective tissue disease	10.3
6	larsen syndrome	10.1
7	flnb disorders	10.1
8	ehlers-danlos syndrome, spondylodysplastic type, 1	10.0
9	thanatophoric dysplasia, type i	10.0
10	hydrops fetalis, nonimmune	10.0
11	intraocular pressure quantitative trait locus	10.0
12	ehlers-danlos syndrome, spondylodysplastic type, 2	10.0
13	clubfoot	10.0
14	quadriplegia	10.0
15	collagen disease	10.0
16	cleft tongue	10.0
17	immune hydrops fetalis	10.0

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

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Symptoms & Phenotypes for Larsen-Like Syndrome

Human phenotypes related to Larsen-Like Syndrome:

⁵⁸ ³⁰ (show all 46)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	scoliosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002650
2	skeletal dysplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002652
3	hip dysplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001385
4	short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	abnormal form of the vertebral bodies ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003312
6	reduced bone mineral density ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004349
7	brachydactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001156
8	clinodactyly of the 5th finger ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004209
9	abnormal metacarpal morphology ³⁰	Hallmark (90%)		HP:0005916
10	abnormal metaphysis morphology ³⁰	Hallmark (90%)		HP:0000944
11	intrauterine growth retardation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001511
12	proptosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000520
13	global developmental delay ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001263
14	corneal opacity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007957
15	short nose ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003196
16	strabismus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000486
17	narrow mouth ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000160
18	low-set, posteriorly rotated ears ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000368
19	abnormal cardiac septum morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001671
20	thin vermilion border ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000233
21	macrocephaly ³⁰			HP:0000256
22	frontal bossing ³⁰			HP:0002007
23	hypotonia ³⁰			HP:0001252
24	delayed skeletal maturation ³⁰			HP:0002750
25	hypertelorism ³⁰			HP:0000316
26	dental malocclusion ³⁰			HP:0000689
27	brachycephaly ³⁰			HP:0000248
28	prominent forehead ³⁰			HP:0011220
29	abnormality of the metaphysis ⁵⁸		Very frequent (99-80%)
30	cleft palate ³⁰			HP:0000175
31	flat face ³⁰			HP:0012368
32	low-set ears ³⁰			HP:0000369
33	recurrent otitis media ³⁰			HP:0000403
34	joint laxity ³⁰			HP:0001388
35	talipes equinovarus ³⁰			HP:0001762
36	kyphoscoliosis ³⁰			HP:0002751
37	conductive hearing impairment ³⁰			HP:0000405
38	joint dislocation ³⁰			HP:0001373
39	malar flattening ³⁰			HP:0000272
40	abnormality of pelvic girdle bone morphology ⁵⁸		Very frequent (99-80%)
41	abnormality of the metacarpal bones ⁵⁸		Very frequent (99-80%)
42	wide anterior fontanel ³⁰			HP:0000260
43	generalized hypotonia ³⁰			HP:0001290
44	absent nasal bridge ³⁰			HP:0005285
45	radial deviation of the 4th finger ³⁰			HP:0009279
46	bipartite calcaneus ³⁰			HP:0008127

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Head:
macrocephaly
brachycephaly
large anterior fontanel

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
flat face

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

Head And Neck Nose:
absent nasal bridge

Head And Neck Teeth:
malocclusion

Skeletal Feet:
clubfoot
double calcaneal ossification center

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

Neurologic:
hypotonia

Growth Height:
short stature

Head And Neck Mouth:
cleft palate

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
developmental delay

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

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

Clinical features from OMIM®:

608545 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Larsen-Like Syndrome

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

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Genetic Tests for Larsen-Like Syndrome

Genetic tests related to Larsen-Like Syndrome:

#	Genetic test	Affiliating Genes
1	Larsen-Like Osseous Dysplasia-Short Stature Syndrome ²⁸

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Anatomical Context for Larsen-Like Syndrome

Organs/tissues related to Larsen-Like Syndrome:

MalaCards : Bone, Tongue, Heart, Brain

Sources

Publications for Larsen-Like Syndrome

Articles related to Larsen-Like Syndrome:

(show all 13)

#	Title	Authors	PMID	Year
1	Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. ⁶² ⁵⁷	James PA...Oei P	12784294	2003
2	Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. ⁵⁷	Pierquin G...Vamos E	1916762	1991
3	(-)-Lariciresinol Isolated from the Roots of Isatis indigotica Fortune ex Lindl. Inhibits Hepatitis B Virus by Regulating Viral Transcription. ⁶²	Yang L...Li Y	35630700	2022
4	The exceptionally efficient quorum quenching enzyme LrsL suppresses Pseudomonas aeruginosa biofilm production. ⁶²	Rehman ZU...Arold ST	36071959	2022
5	Antioxidant efficacy and the upregulation of Nrf2-mediated HO-1 expression by (+)-lariciresinol, a lignan isolated from Rubia philippinensis, through the activation of p38. ⁶²	Bajpai VK...Na M	28378774	2017
6	Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. ⁶²	Budde BS...Kennerknecht I	25893793	2015
7	Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. ⁶²	Baasanjav S...Hoffmann K	21763480	2011
8	Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue. ⁶²	Orhan D...Kale G	19014058	2008
9	Delineation of two distinct 6p deletion syndromes. ⁶²	Davies AF...Ragoussis J	10071194	1999
10	Brain dysplasia associated with Larsen-like syndrome. ⁶²	Yamaguchi K...Handa T	8652025	1996
11	Glaucoma with a Larsen-like syndrome. ⁶²	Bitoun P	7749667	1994
12	Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. ⁶²	Bonaventure J...Maroteaux P	1640425	1992
13	A lethal, Larsen-like multiple joint dislocation syndrome. ⁶²	Chen H...Perrin J	7137228	1982

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Genes for Larsen-Like Syndrome

Genes related to Larsen-Like Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LRSL	Larsen-Like Syndrome	Genetic Locus	58.42	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)

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Variations for Larsen-Like Syndrome

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Expression for Larsen-Like Syndrome

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

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Pathways for Larsen-Like Syndrome

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GO Terms for Larsen-Like Syndrome

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Sources for Larsen-Like Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LRSL MCID: LRS002 MIFTS: 30	Larsen-Like Syndrome (LRSL) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Larsen-Like Syndrome (LRSL)

Aliases & Classifications for Larsen-Like Syndrome

MalaCards integrated aliases for Larsen-Like Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Larsen-Like Syndrome

Related Diseases for Larsen-Like Syndrome

Diseases in the Larsen Syndrome family:

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

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

Symptoms & Phenotypes for Larsen-Like Syndrome

Human phenotypes related to Larsen-Like Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Larsen-Like Syndrome

Genetic Tests for Larsen-Like Syndrome

Genetic tests related to Larsen-Like Syndrome:

Anatomical Context for Larsen-Like Syndrome

Organs/tissues related to Larsen-Like Syndrome:

Publications for Larsen-Like Syndrome

Articles related to Larsen-Like Syndrome:

Genes for Larsen-Like Syndrome

Genes related to Larsen-Like Syndrome (1 elite genes):

Variations for Larsen-Like Syndrome

Expression for Larsen-Like Syndrome

Pathways for Larsen-Like Syndrome

GO Terms for Larsen-Like Syndrome

Sources for Larsen-Like Syndrome