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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Dislocations (D004204)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Larsen syndrome, dominant type (C537873)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema, Dental Medial (C565098)
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tooth Agenesis, Selective, 2 (C566513)
..Tooth Agenesis, Selective, 3 (C567036)
..Tooth Agenesis, Selective, 4 (C563634)
..Tooth Agenesis, Selective, 5 (C565757)
..Tooth Agenesis, Selective, 6 (C567755)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6203

Name:

Larsen syndrome, dominant type

Definition:

Alternative IDs:

OMIM:150250

ParentIDs:

TreeNumbers:

C05.116.099.708/C537873 |C05.500.460.185/C537873 |C05.660.207.540.460.185/C537873 |C05.660.207/C537873 |C07.320.440.185/C537873 |C07.465.409.225/C537873 |C07.465.525.164/C537873 |C07.465.525.185/C537873 |C07.650.500.460.185/C537873 |C07.650.525.164/C537873 |C07.65

Synonyms:

LARSEN SYNDROME |Larsen Syndrome, Autosomal Dominant |LRS

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease|Wounds and injuries

Reference:

MedGen: C537873
MeSH: C537873
OMIM: 150250;

Genes: FLNB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004232	Accessory carpal bones
3	HP:0004942	Aortic aneurysm
4	HP:0001631	Atrial septal defect
5	HP:0004568	Beaking of vertebral bodies
6	HP:0008127	Bipartite calcaneus
7	HP:0002780	Bronchomalacia
8	HP:0002947	Cervical kyphosis
9	HP:0000175	Cleft palate
10	HP:0000204	Cleft upper lip
11	HP:0000405	Conductive hearing impairment
12	HP:0007957	Corneal opacity
13	HP:0000028	Cryptorchidism
14	HP:0005280	Depressed nasal bridge
15	HP:0003994	Dislocated wrist
16	HP:0003042	Elbow dislocation
17	HP:0012368	Flat face
18	HP:0002007	Frontal bossing
19	HP:0002827	Hip dislocation
20	HP:0000316	Hypertelorism
21	HP:0000668	Hypodontia
22	HP:0008434	Hypoplastic cervical vertebrae
23	HP:0001249	Intellectual disability
24	HP:0001511	Intrauterine growth retardation
25	HP:0001388	Joint laxity
26	HP:0004976	Knee dislocation
27	HP:0000272	Malar flattening
28	HP:0006067	Multiple carpal ossification centers
29	HP:0000768	Pectus carinatum
30	HP:0000767	Pectus excavatum
31	HP:0011220	Prominent forehead
32	HP:0002650	Scoliosis
33	HP:0000586	Shallow orbits
34	HP:0010049	Short metacarpal
35	HP:0010743	Short metatarsal
36	HP:0001799	Short nail
37	HP:0004322	Short stature
38	HP:0001222	Spatulate thumbs
39	HP:0003298	Spina bifida occulta
40	HP:0002176	Spinal cord compression
41	HP:0003304	Spondylolysis
42	HP:0001772	Talipes equinovalgus
43	HP:0001762	Talipes equinovarus
44	HP:0002777	Tracheal stenosis
45	HP:0002779	Tracheomalacia
46	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001457.3(FLNB):c.482T>G (p.Phe161Cys)	2317	FLNB	Pathogenic	80356506	RCV000030670; RCV000030660;	N	MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250	3	58062962	58062962	NM_001457.3:c.482T>G	NP_001448.2:p.Phe161Cys	NC_000003.11:g.58062962T>G	OMIM Allelic Variant:603381.0004	C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.679G>A (p.Glu227Lys)	2317	FLNB	Pathogenic	80356508	RCV000030672; RCV000030662;	N	MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250	3	58067395	58067395	NM_001457.3:c.679G>A	NP_001448.2:p.Glu227Lys	NC_000003.11:g.58067395G>A	OMIM Allelic Variant:603381.0011	C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.700C>G (p.Leu234Val)	2317	FLNB	Pathogenic	80356507	RCV000020459;	N	MedGen:C1835564,OMIM:150250	3	58067416	58067416	NM_001457.3:c.700C>G	NP_001448.2:p.Leu234Val	NC_000003.11:g.58067416C>G	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.1081G>A (p.Gly361Ser)	2317	FLNB	Pathogenic	80356509	RCV000020441;	N	MedGen:C1835564,OMIM:150250	3	58083638	58083638	NM_001457.3:c.1081G>A	NP_001448.2:p.Gly361Ser	NC_000003.11:g.58083638G>A	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.1088G>A (p.Gly363Glu)	2317	FLNB	Pathogenic	80356510	RCV000020442;	N	MedGen:C1835564,OMIM:150250	3	58083645	58083645	NM_001457.3:c.1088G>A	NP_001448.2:p.Gly363Glu	NC_000003.11:g.58083645G>A	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.4292T>G (p.Leu1431Arg)	2317	FLNB	Pathogenic	80356511	RCV000020444;	N	MedGen:C1835564,OMIM:150250	3	58116537	58116537	NM_001457.3:c.4292T>G	NP_001448.2:p.Leu1431Arg	NC_000003.11:g.58116537T>G	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.4711_4713delAAT (p.Asn1571del)	2317	FLNB	Pathogenic	80356512	RCV000020446;	N	MedGen:C1835564,OMIM:150250	3	58121745	58121747	NM_001457.3:c.4711_4713delAAT	NP_001448.2:p.Asn1571del	NC_000003.11:g.58121745_58121747delAAT	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.4756G>A (p.Gly1586Arg)	2317	FLNB	Pathogenic	80356513	RCV000030669; RCV000030661;	N	MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250	3	58121790	58121790	NM_001457.3:c.4756G>A	NP_001448.2:p.Gly1586Arg	NC_000003.11:g.58121790G>A	OMIM Allelic Variant:603381.0005	C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.4775T>A (p.Val1592Asp)	2317	FLNB	Pathogenic	80356514	RCV000020448;	N	MedGen:C1835564,OMIM:150250	3	58121809	58121809	NM_001457.3:c.4775T>A	NP_001448.2:p.Val1592Asp	NC_000003.11:g.58121809T>A	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.4808C>T (p.Pro1603Leu)	2317	FLNB	Pathogenic	80356515	RCV000020450;	N	MedGen:C1835564,OMIM:150250	3	58121842	58121842	NM_001457.3:c.4808C>T	NP_001448.2:p.Pro1603Leu	NC_000003.11:g.58121842C>T	-	C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.5071G>A (p.Gly1691Ser)	2317	FLNB	Pathogenic	80356503	RCV000030671; RCV000030663;	N	MedGen:C0175778,SNOMED CT:63387002; MedGen:C1835564,OMIM:150250	3	58124218	58124218	NM_001457.3:c.5071G>A	NP_001448.2:p.Gly1691Ser	NC_000003.11:g.58124218G>A	OMIM Allelic Variant:603381.0012	C0175778 Larsen syndrome; C1835564 150250 Larsen syndrome, dominant type
NM_001457.3(FLNB):c.5500G>A (p.Gly1834Arg)	2317	FLNB	Pathogenic	80356516	RCV000020455;	N	MedGen:C1835564,OMIM:150250	3	58131722	58131722	NM_001457.3:c.5500G>A	NP_001448.2:p.Gly1834Arg	NC_000003.11:g.58131722G>A	-	C1835564 150250 Larsen syndrome, dominant type