MCID: LRN006
MIFTS: 31

Laurin-Sandrow Syndrome malady

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

Aliases & Classifications for Laurin-Sandrow Syndrome

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 51 47 53 69 67
Tetramelic Mirror-Image Polydactyly 47 69 12
Sandrow Syndrome 47 53 69
Mirror Hands and Feet with Nasal Defects 47 69
Laurin Sandrow Syndrome 47 26
Duplication of Fibula and Ulna with Absence of Tibia and Radius 69
Mirror Hands and Feets-Nasal Defects Syndrome 53
 
Fibula Ulna Duplication Tibia Radius Absence 47
Laurin-Sandrow Syndrome, Segmental 67
Segmental Laurin-Sandrow Syndrome 69
Mirror-Image Polydactyly 69
Tmip 69
Lss 69
Mip 69

Characteristics:

Orphanet epidemiological data:

53
laurin-sandrow syndrome:
Inheritance: Autosomal dominant

HPO:

63
laurin-sandrow syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 135750
Orphanet53 ORPHA2378
ICD10 via Orphanet30 Q87.2
MESH via Orphanet39 C535689
UMLS via Orphanet68 C1851100
MedGen36 C1851100
MeSH38 D017880

Summaries for Laurin-Sandrow Syndrome

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UniProtKB/Swiss-Prot:69 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 abnormality of the metacarpal bones, preaxial hand polydactyly and toe syndactyly. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone.

Description from OMIM:51 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 55)
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 cataract11.2
5brain edema10.9
6diabetes insipidus, nephrogenic10.9
7bullous keratopathy10.9
8presbyopia10.9
9meniere's disease10.9
10aplasia of lacrimal and salivary glands10.8
11eye accommodation disease10.8
12lens disease10.8
13impaired renal function disease10.8
14mature cataract10.8
15dysferlinopathy10.8
16hydrops, lactic acidosis, and sideroblastic anemia10.8
17cataract 16, multiple types10.6
18cataract 2510.6
19cataract 4410.6
20cataract, polymorphic and lamellar10.6
21early-onset nuclear cataract10.6
22polydactyly10.2
23multiple myeloma9.8
24patella aplasia/hypoplasia, bilateral9.7LMBR1, SHH
25macrodactyly of fingers9.7LMBR1, SHH
26postaxial polydactyly type a, unilateral9.6LMBR1, SHH
27rheumatoid arthritis9.6
28lung cancer9.6
29hiv-19.6
30hodgkin lymphoma9.6
31renal cell carcinoma9.6
32leprosy9.6
33membranous nephropathy9.6
34arthritis9.6
35bipolar disorder9.6
36hepatitis9.6
37hereditary hemorrhagic telangiectasia9.6
38pulmonary fibrosis9.6
39posterior polar cataract9.6
40lymphoma9.6
41borderline leprosy9.6
42dermatitis9.6
43ischemia9.6
44atopic dermatitis9.6
45cerebritis9.6
46neuronitis9.6
47clear cell papillary renal cell carcinoma9.6
48polysyndactyly, bilateral9.6LMBR1, SHH
49syndactyly, type iv9.6LMBR1, SHH
50hypoplastic or aplastic tibia with polydactyly9.5LMBR1, SHH

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



Diseases related to laurin-sandrow syndrome

Symptoms 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:

 63 53 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones63 53 hallmark (90%) Very frequent (99-80%) HP:0001163
2 preaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001177
3 toe syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001770
4 preaxial foot polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001841
5 finger syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0006101
6 tarsal synostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008368
7 aplasia/hypoplasia of the thumb63 53 hallmark (90%) Very frequent (99-80%) HP:0009601
8 underdeveloped nasal alae63 53 typical (50%) Frequent (79-30%) HP:0000430
9 limitation of joint mobility63 53 typical (50%) Frequent (79-30%) HP:0001376
10 talipes63 53 typical (50%) Frequent (79-30%) HP:0001883
11 abnormality of the tibia63 typical (50%) HP:0002992
12 abnormality of the wrist63 53 typical (50%) Frequent (79-30%) HP:0003019
13 aplasia/hypoplasia of the radius63 typical (50%) HP:0006501
14 limb duplication63 53 typical (50%) Frequent (79-30%) HP:0100524
15 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
16 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
17 hypertelorism63 53 occasional (7.5%) Occasional (29-5%) HP:0000316
18 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
19 downturned corners of mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0002714
20 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
21 cognitive impairment63 occasional (7.5%) HP:0100543
22 abnormality of the face63 HP:0000271
23 syndactyly63 HP:0001159
24 hand polydactyly63 HP:0001161
25 triphalangeal thumb63 53 Very frequent (99-80%) HP:0001199
26 broad foot63 HP:0001769
27 short foot63 HP:0001773
28 absent radius63 53 Frequent (79-30%) HP:0003974
29 patellar aplasia63 HP:0006443
30 absent tibia63 53 Frequent (79-30%) HP:0009556
31 fibular duplication63 53 Frequent (79-30%) HP:0010503
32 abnormality of the nose53 Frequent (79-30%)
33 prominent nose53 Frequent (79-30%)
34 depressed nasal ridge53 Frequent (79-30%)
35 intellectual disability53 Occasional (29-5%)
36 short columella53 Frequent (79-30%)
37 mirror image polydactyly53 Very frequent (99-80%)

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 Syndrome26

Anatomical Context for Laurin-Sandrow Syndrome

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MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

35
Bone

Animal Models for Laurin-Sandrow Syndrome or affiliated genes

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Publications for Laurin-Sandrow Syndrome

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Articles related to Laurin-Sandrow Syndrome:

idTitleAuthorsYear
1
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. (24456159)
2014
2
Male-to-male transmission of Laurin-Sandrow syndrome in a Mexican family. (24556604)
2014
3
Laurin-Sandrow syndrome: review and redefinition. (18792985)
2008
4
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. (16059937)
2005
5
Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. (15389704)
2004
6
Laurin-Sandrow syndrome with additional associated manifestations. (11169557)
2001
7
Laurin-Sandrow syndrome--a surgical challenge. (10657454)
2000
8
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. (8733058)
1996
9
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:00427339.0LMBR1, SHH

Sources for Laurin-Sandrow Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet