LSS
MCID: LRN006
MIFTS: 31

Laurin-Sandrow Syndrome (LSS) malady

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

Aliases & Classifications for Laurin-Sandrow Syndrome

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 52 48 54 70 68
Tetramelic Mirror-Image Polydactyly 48 70 12
Sandrow Syndrome 48 54 70
Mirror Hands and Feet with Nasal Defects 48 70
Laurin Sandrow Syndrome 48 27
Duplication of Fibula and Ulna with Absence of Tibia and Radius 70
Mirror Hands and Feets-Nasal Defects Syndrome 54
 
Fibula Ulna Duplication Tibia Radius Absence 48
Laurin-Sandrow Syndrome, Segmental 68
Segmental Laurin-Sandrow Syndrome 70
Mirror-Image Polydactyly 70
Tmip 70
Lss 70
Mip 70

Characteristics:

Orphanet epidemiological data:

54
laurin-sandrow syndrome:
Inheritance: Autosomal dominant

HPO:

64
laurin-sandrow syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 135750
Orphanet54 ORPHA2378
ICD10 via Orphanet31 Q87.2
MESH via Orphanet40 C535689
UMLS via Orphanet69 C1851100
MedGen37 C1851100
MeSH39 D017880

Summaries for Laurin-Sandrow Syndrome

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UniProtKB/Swiss-Prot:70 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).

MalaCards based summary: Laurin-Sandrow Syndrome, also known as tetramelic mirror-image polydactyly, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and cataract 15, multiple types, and has symptoms including Array, Array and Array. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone.

Description from OMIM:52 135750

Related Diseases for Laurin-Sandrow Syndrome

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly12.6
2cataract 15, multiple types11.6
3cataract11.4
4cerulean cataract11.3
5brain edema11.0
6diabetes insipidus, nephrogenic10.9
7bullous keratopathy10.9
8presbyopia10.9
9meniere's disease10.9
10aplasia of lacrimal and salivary glands10.9
11cataract 16, multiple types10.9
12cataract 2510.9
13cataract 4410.9
14eye accommodation disease10.9
15lens disease10.9
16impaired renal function disease10.9
17mature cataract10.9
18dysferlinopathy10.9
19cataract, polymorphic and lamellar10.9
20early-onset nuclear cataract10.9
21hydrops, lactic acidosis, and sideroblastic anemia10.9
22polydactyly10.2
23localized lichen myxedematosus with mixed features of different subtypes10.0LMBR1, SHH
24congenital pseudoarthrosis of the fibula10.0LMBR1, SHH
25congenital pseudoarthrosis of the radius10.0LMBR1, SHH
26metastatic insulinoma10.0LMBR1, ZRS
27postaxial polydactyly type a, bilateral10.0LMBR1, SHH
28postaxial polydactyly of toes, unilateral10.0LMBR1, SHH
29hypoplastic or aplastic tibia with polydactyly10.0LMBR1, SHH
30currarino syndrome10.0LMBR1, SHH
31syndactyly, type iv9.9LMBR1, SHH
32hypoparathyroidism9.9LMBR1, SHH
33autosomal genetic disease9.9LMBR1, SHH
34ugt2b15-related altered drug metabolism9.8LMBR1, SHH, ZRS
35fibrous dysplasia9.8LMBR1, SHH
36multiple myeloma9.8
37nephrotic syndrome9.8
38horner's syndrome9.7LMBR1, MIPOL1, SHH
39rheumatoid arthritis9.6
40lung cancer9.6
41hiv-19.6
42hodgkin lymphoma9.6
43renal cell carcinoma9.6
44leprosy9.6
45membranous nephropathy9.6
46arthritis9.6
47bipolar disorder9.6
48hepatitis9.6
49hereditary hemorrhagic telangiectasia9.6
50pulmonary fibrosis9.6

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



Diseases related to laurin-sandrow syndrome

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

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Symptoms by clinical synopsis from OMIM:

135750

Clinical features from OMIM:

135750

Human phenotypes related to Laurin-Sandrow Syndrome:

 54 64 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 hydrocephalus64 54 Occasional (29-5%) HP:0000238
3 hypertelorism64 54 Occasional (29-5%) HP:0000316
4 abnormality of the nose54 Frequent (79-30%)
5 underdeveloped nasal alae64 54 Frequent (79-30%) HP:0000430
6 prominent nose64 54 Frequent (79-30%) HP:0000448
7 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
8 abnormality of the metacarpal bones64 54 Very frequent (99-80%) HP:0001163
9 preaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001177
10 triphalangeal thumb64 54 Very frequent (99-80%) HP:0001199
11 intellectual disability64 54 Occasional (29-5%) HP:0001249
12 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
13 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
14 toe syndactyly64 54 Very frequent (99-80%) HP:0001770
15 preaxial foot polydactyly64 54 Very frequent (99-80%) HP:0001841
16 talipes64 54 Frequent (79-30%) HP:0001883
17 short columella64 54 Frequent (79-30%) HP:0002000
18 downturned corners of mouth64 54 Occasional (29-5%) HP:0002714
19 abnormality of the wrist64 54 Frequent (79-30%) HP:0003019
20 finger syndactyly64 54 Very frequent (99-80%) HP:0006101
21 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
22 tarsal synostosis64 54 Very frequent (99-80%) HP:0008368
23 absent tibia64 54 Frequent (79-30%) HP:0009556
24 aplasia/hypoplasia of the thumb64 54 Very frequent (99-80%) HP:0009601
25 fibular duplication64 54 Frequent (79-30%) HP:0010503
26 mirror image polydactyly64 54 Very frequent (99-80%) HP:0010689
27 absent radius64 54 Frequent (79-30%) HP:0003974
28 limb duplication64 54 Frequent (79-30%) HP:0100524
29 abnormality of the face64 HP:0000271
30 syndactyly64 HP:0001159
31 hand polydactyly64 HP:0001161
32 broad foot64 HP:0001769
33 short foot64 HP:0001773
34 patellar aplasia64 HP:0006443

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Laurin-Sandrow Syndrome

Genetic Tests for Laurin-Sandrow Syndrome

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Genetic tests related to Laurin-Sandrow Syndrome:

id Genetic test Affiliating Genes
1 Laurin-Sandrow Syndrome27

Anatomical Context for Laurin-Sandrow Syndrome

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MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

36
Bone

Publications for Laurin-Sandrow Syndrome

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Articles related to Laurin-Sandrow Syndrome:

idTitleAuthorsYear
1
Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. (28234639)
2017
2
Male-to-male transmission of Laurin-Sandrow syndrome in a Mexican family. (24556604)
2014
3
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. (24456159)
2014
4
Laurin-Sandrow syndrome: review and redefinition. (18792985)
2008
5
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. (16059937)
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)
2001
8
Laurin-Sandrow syndrome--a surgical challenge. (10657454)
2000
9
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. (8733058)
1996
10
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. (8064822)
1994

Variations for Laurin-Sandrow Syndrome

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Clinvar genetic disease variations for Laurin-Sandrow Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMBR1NM_ 022458.3(LMBR1): c.320-5565_ 423+10975dupduplicationPathogenicGRCh37Chr 7, 156578108: 156594751
2LMBR1NG_ 009240.1: g.80271_ 127047dup46777duplicationPathogenicGRCh37Chr 7, 156563856: 156610632
3LMBR1NG_ 009240.1: g.44153_ 120123dup75971duplicationPathogenicGRCh37Chr 7, 156570780: 156646750

Expression for genes affiliated with Laurin-Sandrow Syndrome

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

Pathways for genes affiliated with Laurin-Sandrow Syndrome

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GO Terms for genes affiliated with Laurin-Sandrow Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.3LMBR1, SHH

Sources for Laurin-Sandrow Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet