Laurin-Sandrow Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LSS MCID: LRN006 MIFTS: 40	Laurin-Sandrow Syndrome (LSS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Laurin-Sandrow Syndrome

MalaCards integrated aliases for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ⁴⁰ ⁷³

Tetramelic Mirror-Image Polydactyly ⁵⁷ ⁵³ ⁷⁵ ¹³

Sandrow Syndrome ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Mirror Hands and Feet with Nasal Defects ⁵⁷ ⁵³ ⁷⁵

Mirror-Image Polydactyly ⁵⁷ ⁵⁹ ⁷⁵

Mirror Image Polydactyly ²⁹ ⁶

Tmip ⁵⁷ ⁷⁵

Lss ⁵⁷ ⁷⁵

Mip ⁵⁷ ⁷⁵

Fibula and Ulna, Duplication of, with Absence of Tibia and Radius ⁵⁷

Duplication of Fibula and Ulna with Absence of Tibia and Radius ⁷⁵

Mirror Hands and Feets-Nasal Defects Syndrome ⁵⁹

Fibula Ulna Duplication Tibia Radius Absence ⁵³

Tetramelic Mirror-Image Polydactyly; Tmip ⁵⁷

Laurin-Sandrow Syndrome, Segmental ⁷³

Segmental Laurin-Sandrow Syndrome ⁷⁵

Mirror-Image Polydactyly; Mip ⁵⁷

Laurin Sandrow Syndrome ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

laurin-sandrow syndrome
Inheritance: Autosomal dominant;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
limb malformations are variable

HPO:

³²

laurin-sandrow syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 135750

Orphanet ⁵⁹ ORPHA2378 ORPHA498494

ICD10 via Orphanet ³⁴ Q87.2

MESH via Orphanet ⁴⁵ C535689

UMLS via Orphanet ⁷⁴ C1851100

MedGen ⁴² C1851100

MeSH ⁴⁴ D017880

UMLS ⁷³ C1851100 C1851101

Sources

Summaries for Laurin-Sandrow Syndrome

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2378Disease definitionLaurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Laurin-Sandrow Syndrome, also known as tetramelic mirror-image polydactyly, is related to polydactyly and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone, lung and brain, and related phenotypes are hypertelorism and finger syndactyly

UniProtKB/Swiss-Prot : ⁷⁵ Laurin-Sandrow syndrome: A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome).

Description from OMIM: 135750

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Related Diseases for Laurin-Sandrow Syndrome

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

(show top 50) (show all 69)

#	Related Disease	Score	Top Affiliating Genes
1	polydactyly	30.2	SHH MIPOL1 LMBR1
2	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	12.9
3	cataract 44	11.9
4	cataract 15, multiple types	11.9
5	cataract	11.6
6	cerulean cataract	11.5
7	holoprosencephaly	11.3
8	brain edema	11.2
9	holoprosencephaly 1	11.2
10	candida glabrata	11.2
11	diabetes insipidus, nephrogenic, autosomal	11.2
12	meniere disease	11.2
13	bullous keratopathy	11.2
14	presbyopia	11.2
15	aplasia of lacrimal and salivary glands	11.1
16	cataract 16, multiple types	11.1
17	hydrops, lactic acidosis, and sideroblastic anemia	11.1
18	eye accommodation disease	11.1
19	mature cataract	11.1
20	hydrarthrosis	11.1
21	dysferlinopathy	11.1
22	cataract 25	10.9
23	early-onset nuclear cataract	10.9
24	legionnaires' disease	10.3
25	spinal stenosis	10.2
26	lung cancer	10.1
27	hypotrichosis 7	10.0
28	hypotrichosis	10.0
29	hypotrichosis simplex	10.0
30	radial hemimelia	10.0	SHH LMBR1
31	nasopharyngeal carcinoma	10.0
32	small cell cancer of the lung	10.0
33	myeloma, multiple	10.0
34	human herpesvirus 8	10.0
35	nephrotic syndrome	10.0
36	human immunodeficiency virus infectious disease	10.0
37	tibia, hypoplasia or aplasia of, with polydactyly	10.0	SHH LMBR1
38	polydactyly, preaxial ii	10.0	SHH LMBR1
39	mesomelia	10.0	ZRS LMBR1
40	acheiropody	10.0	SHH LMBR1
41	tibial hemimelia	9.9	ZRS PITX1
42	axenfeld-rieger syndrome, type 1	9.9	SHH PITX1
43	physical disorder	9.9	SHH LMBR1
44	adamantinoma of long bones	9.9
45	multiple sclerosis	9.9
46	renal cell carcinoma, nonpapillary	9.9
47	rheumatoid arthritis	9.9
48	lymphoma, hodgkin, classic	9.9
49	dermatitis, atopic	9.9
50	renal cell carcinoma, papillary, 1	9.9

Graphical network of the top 20 diseases related to Laurin-Sandrow Syndrome:

Sources

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
triphalangeal thumb
syndactyly
autopodial duplication, symmetrical
duplication of bones of the hand
dysplastic carpal bones
more

Skeletal Feet:
syndactyly
autopodial duplication, symmetrical
polydactyly, preaxial or postaxial
short, broad feet
dysplastic tarsal bones
more

Skeletal Limbs:
absent radius
absent tibia
fibular duplication
zeugopodial duplication, symmetrical
ulnar duplication
more

Head And Neck Nose:
hypoplastic alae nasi
cleft nares, bilateral
grooved columella

Clinical features from OMIM:

135750

Human phenotypes related to Laurin-Sandrow Syndrome:

⁵⁹ ³² (show all 34)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000316
2	finger syndactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006101
3	hydrocephalus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000238
4	intellectual disability ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001249
5	muscular hypotonia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001252
6	limitation of joint mobility ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001376
7	cryptorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000028
8	underdeveloped nasal alae ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000430
9	depressed nasal ridge ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000457
10	abnormality of the metacarpal bones ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001163
11	downturned corners of mouth ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002714
12	preaxial hand polydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001177
13	triphalangeal thumb ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001199
14	toe syndactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001770
15	aplasia/hypoplasia of the corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007370
16	tarsal synostosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008368
17	talipes ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001883
18	aplasia/hypoplasia of the thumb ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009601
19	prominent nose ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000448
20	short columella ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002000
21	abnormality of the wrist ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003019
22	absent radius ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003974
23	absent tibia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009556
24	preaxial foot polydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001841
25	fibular duplication ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010503
26	mirror image polydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010689
27	limb duplication ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100524
28	short foot ³²			HP:0001773
29	abnormality of the face ³²			HP:0000271
30	hand polydactyly ³²			HP:0001161
31	abnormality of the nose ⁵⁹		Frequent (79-30%)
32	broad foot ³²			HP:0001769
33	patellar aplasia ³²			HP:0006443
34	syndactyly ³²			HP:0001159

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	8.8	LMBR1 PITX1 SHH

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Drugs & Therapeutics for Laurin-Sandrow Syndrome

Search Clinical Trials , NIH Clinical Center for Laurin-Sandrow Syndrome

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Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

#	Genetic test	Affiliating Genes
1	Mirror Image Polydactyly ²⁹	LMBR1

Sources

Anatomical Context for Laurin-Sandrow Syndrome

MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

⁴¹

Bone, Lung, Brain, Eye, Salivary Gland

Sources

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

#	Title	Authors	Year
1	Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. ( 28234639 )		2017
2	Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. ( 24456159 )	Lohan S....Klopocki E.	2014
3	Male-to-male transmission of Laurin-Sandrow syndrome in a Mexican family. ( 24556604 )	Salinas-Torres V.M.	2014
4	Laurin-Sandrow syndrome: review and redefinition. ( 18792985 )	MariA+o-EnrA-quez A....RodrA-guez J.I.	2008
5	Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. ( 16059937 )	Kjaer K.W....Tommerup N.	2005
6	Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. ( 15389704 )		2004
7	Laurin-Sandrow syndrome with additional associated manifestations. ( 11169557 )	Kantaputra P.N.	2001
8	Laurin-Sandrow syndrome--a surgical challenge. ( 10657454 )		2000
9	Mirror hands and feet: a further case of Laurin-Sandrow syndrome. ( 8733058 )	Hatchwell E...Dennis N	1996
10	Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. ( 8064822 )		1994

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Genes for Laurin-Sandrow Syndrome

Genes related to Laurin-Sandrow Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	LMBR1	Limb Development Membrane Protein 1	Protein Coding	1377.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications (show sections)
2	SHH	Sonic Hedgehog	Protein Coding	27.8	GeneCards inferred via : Disorders Publications (show sections)
3	PITX1	Paired Like Homeodomain 1	Protein Coding	25	Role in the phenotype ⁵⁹
4	MIPOL1	Mirror-Image Polydactyly 1	Protein Coding	18.38	GeneCards inferred via : Summaries (show sections)
5	ZRS	ZPA Regulatory Sequence	Uncategorized	17.49	GeneCards inferred via : Publications Summaries (show sections)

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Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

⁶

#	Gene	Variation	Type	Significance	Assembly	Location
1	LMBR1	NM_022458.3(LMBR1): c.320-5565_423+10975dup	duplication	Pathogenic	GRCh37	Chromosome 7, 156578108: 156594751
2	LMBR1	NM_022458.3(LMBR1): c.320-5565_423+10975dup	duplication	Pathogenic	GRCh38	Chromosome 7, 156785414: 156802057
3	LMBR1	NC_000007.14: g.156771162_156817938dup	duplication	Pathogenic	GRCh37	Chromosome 7, 156563856: 156610632
4	LMBR1	NC_000007.14: g.156771162_156817938dup	duplication	Pathogenic	GRCh38	Chromosome 7, 156771162: 156817938
5	LMBR1	NC_000007.14: g.156778086_156854056dup	duplication	Pathogenic	GRCh37	Chromosome 7, 156570780: 156646750
6	LMBR1	NC_000007.14: g.156778086_156854056dup	duplication	Pathogenic	GRCh38	Chromosome 7, 156778086: 156854056

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Expression for Laurin-Sandrow Syndrome

Search GEO for disease gene expression data for Laurin-Sandrow Syndrome.

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Pathways for Laurin-Sandrow Syndrome

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GO Terms for Laurin-Sandrow Syndrome

Biological processes related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	embryonic digit morphogenesis	GO:0042733	8.96	LMBR1 SHH
2	embryonic hindlimb morphogenesis	GO:0035116	8.62	PITX1 SHH

Sources

Sources for Laurin-Sandrow Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Laurin-Sandrow Syndrome (LSS)

Aliases & Classifications for Laurin-Sandrow Syndrome

MalaCards integrated aliases for Laurin-Sandrow Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Laurin-Sandrow Syndrome

Related Diseases for Laurin-Sandrow Syndrome

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

Graphical network of the top 20 diseases related to Laurin-Sandrow Syndrome:

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Laurin-Sandrow Syndrome:

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

Drugs & Therapeutics for Laurin-Sandrow Syndrome

Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

Anatomical Context for Laurin-Sandrow Syndrome

MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

Genes for Laurin-Sandrow Syndrome

Genes related to Laurin-Sandrow Syndrome (2 elite genes):

Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

Expression for Laurin-Sandrow Syndrome

Pathways for Laurin-Sandrow Syndrome

GO Terms for Laurin-Sandrow Syndrome

Biological processes related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

Sources for Laurin-Sandrow Syndrome