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	larsen syndrome

Disease ID	529
Disease	larsen syndrome
Definition	Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.[1] Patients suffering from Larsen syndrome normally present with a variety of symptoms, including congenital anterior dislocation of the knees, dislocation of the hips and elbows, flattened facial appearance, prominent foreheads, and depressed nasal bridges.[2] Larsen syndrome can also cause a variety of cardiovascular[3] and orthopedic abnormalities.[4] This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton.[5] The gene that influences the emergence of Larsen syndrome is found in chromosome region, 3p21.1-14.1, a region containing human type VII collagen gene.[6] Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual.[2] Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant.[1] Reports have found that in Western societies, Larsen syndrome can be found in one in every 100,000 births, but this is most likely an underestimate because the disorder is frequently unrecognized or misdiagnosed.[6] - Wikipedia Reference: https://en.wikipedia.org/wiki/larsen syndrome
Synonym	larsen syndrome (disorder) larsen's syndrome larsens syndrome lrs
OMIM	OMIM:150250 OMIM:151350
DOID	DOID:14764
UMLS	C0175778
SNOMED-CT	SNOMEDCT_US_2016_09_01:63387002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0022821 \| kyphosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 9469 \| CHST3 \| UNIPROT 2317 \| FLNB \| CLINVAR;GHR;UNIPROT 51520 \| LARS \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:12) 55811 \| ADCY10 \| 2.222 \| DISEASES 9469 \| CHST3 \| 5.305 \| DISEASES 1294 \| COL7A1 \| 2.374 \| DISEASES 594855 \| CPLX3 \| 2.807 \| DISEASES 1785 \| DNM2 \| 3.429 \| DISEASES 2317 \| FLNB \| 6.729 \| DISEASES 64412 \| GZF1 \| 4.989 \| DISEASES 3339 \| HSPG2 \| 1.972 \| DISEASES 51520 \| LARS \| 3.111 \| DISEASES 8481 \| OFD1 \| 3.317 \| DISEASES 8878 \| SQSTM1 \| 2.002 \| DISEASES 7048 \| TGFBR2 \| 1.912 \| DISEASES
Locus	(Waiting for update.)

Disease ID	529
Disease	larsen syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0100775 \| Dural ectasia \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0002947 \| Cervical kyphosis \| 1 HP:0004976 \| Dislocations of the knees \| 1 HP:0000405 \| Conductive hearing loss \| 1 HP:0002827 \| Hip dislocation \| 1 HP:0003414 \| Atlantoaxial subluxation \| 1 HP:0005191 \| Congenital knee dislocation \| 1

Disease ID	529
Disease	larsen syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C0700208 \| scoliosis C0340231 \| bronchomalacia C0265673 \| kyphosis C0243050 \| cardiovascular abnormalities C0155552 \| mixed hearing loss C0034372 \| quadriplegia C0024591 \| malignant hyperthermia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0022821 \| kyphosis \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
FLNB	c.479A>C, p.N160T	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs28939706	14991055	2317	FLNB	umls:C0175778	UNIPROT	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.	0.241628651	2004	NA	NA	NA	NA	NA
rs80356503	NA	2317	FLNB	umls:C0175778	CLINVAR	NA	0.241628651	NA	FLNB	3	58138491	G	A
rs80356506	NA	2317	FLNB	umls:C0175778	CLINVAR	NA	0.241628651	NA	FLNB	3	58077235	T	G
rs80356508	NA	2317	FLNB	umls:C0175778	CLINVAR	NA	0.241628651	NA	FLNB	3	58081668	G	A
rs80356513	NA	2317	FLNB	umls:C0175778	CLINVAR	NA	0.241628651	NA	FLNB	3	58136063	G	A

GWASdb Annotation(Total Genotypes:2)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
5	145513868	rs2963921	NM_020117,LARS	ENST00000274562,ENSG00000133706	ENST00000394434,ENSG00000133706	ENST00000510191,ENSG00000133706	ENST00000512412,ENSG00000133706	NA	NA	chr5,145510001,145520000,chr5,145530001,145540000,28,Hi-C	chr5,145510001,145520000,chr12,55930001,55940000,5,Hi-C	NA	LM19,2.2775	LM38,2.574	LM50,3.5727	LM55,21.9863	LM120,1.8876	NA	NA	NA	NA	NA	NA	0.099	-0.695	-0.397	R2	C	NA	NA	NA	0.650	0.800	0.610	0.500	0.670	Intergenic
5	145532859	rs17500483	NM_020117,LARS	ENST00000274562,ENSG00000133706	ENST00000394434,ENSG00000133706	ENST00000510191,ENSG00000133706	NA	NA	chr5,145530001,145540000,chr5,145550001,145560000,26,Hi-C	chr5,145530001,145540000,chr5,145510001,145520000,28,Hi-C	chr5,145530001,145540000,chr5,154210001,154220000,4,Hi-C	NA	LM52,2.1539	LM142,1.7269	LM160,2.1251	LM194,1.6358	LM220,3.6497	NA	NA	NA	NA	NA	NA	0.000	-0.417	-2.21	GE0	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	529
Disease	larsen syndrome
Case	(Waiting for update.)

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