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, 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 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: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 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 & 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:

 64 54 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones64 54 hallmark (90%) Very frequent (99-80%) HP:0001163
2 preaxial hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001177
3 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
4 preaxial foot polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001841
5 finger syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0006101
6 tarsal synostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0008368
7 aplasia/hypoplasia of the thumb64 54 hallmark (90%) Very frequent (99-80%) HP:0009601
8 underdeveloped nasal alae64 54 typical (50%) Frequent (79-30%) HP:0000430
9 limitation of joint mobility64 54 typical (50%) Frequent (79-30%) HP:0001376
10 talipes64 54 typical (50%) Frequent (79-30%) HP:0001883
11 abnormality of the tibia64 typical (50%) HP:0002992
12 abnormality of the wrist64 54 typical (50%) Frequent (79-30%) HP:0003019
13 aplasia/hypoplasia of the radius64 typical (50%) HP:0006501
14 limb duplication64 54 typical (50%) Frequent (79-30%) HP:0100524
15 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
16 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
17 hypertelorism64 54 occasional (7.5%) Occasional (29-5%) HP:0000316
18 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
19 downturned corners of mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0002714
20 aplasia/hypoplasia of the corpus callosum64 54 occasional (7.5%) Occasional (29-5%) HP:0007370
21 cognitive impairment64 occasional (7.5%) HP:0100543
22 abnormality of the face64 HP:0000271
23 syndactyly64 HP:0001159
24 hand polydactyly64 HP:0001161
25 triphalangeal thumb64 54 Very frequent (99-80%) HP:0001199
26 broad foot64 HP:0001769
27 short foot64 HP:0001773
28 absent radius64 54 Frequent (79-30%) HP:0003974
29 patellar aplasia64 HP:0006443
30 absent tibia64 54 Frequent (79-30%) HP:0009556
31 fibular duplication64 54 Frequent (79-30%) HP:0010503
32 abnormality of the nose54 Frequent (79-30%)
33 prominent nose54 Frequent (79-30%)
34 depressed nasal ridge54 Frequent (79-30%)
35 intellectual disability54 Occasional (29-5%)
36 short columella54 Frequent (79-30%)
37 mirror image polydactyly54 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 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
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
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