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

Aliases & Descriptions for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 54 50 56 66 69
Tetramelic Mirror-Image Polydactyly 50 66 13
Sandrow Syndrome 50 56 66
Mirror Hands and Feet with Nasal Defects 50 66
Laurin Sandrow Syndrome 50 29
Duplication of Fibula and Ulna with Absence of Tibia and Radius 66
Mirror Hands and Feets-Nasal Defects Syndrome 56
Fibula Ulna Duplication Tibia Radius Absence 50
Laurin-Sandrow Syndrome, Segmental 69
Segmental Laurin-Sandrow Syndrome 66
Mirror-Image Polydactyly 66
Tmip 66
Mip 66
Lss 66

Characteristics:

Orphanet epidemiological data:

56
laurin-sandrow syndrome
Inheritance: Autosomal dominant;

HPO:

32
laurin-sandrow syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 135750
Orphanet 56 ORPHA2378
ICD10 via Orphanet 34 Q87.2
MESH via Orphanet 43 C535689
UMLS via Orphanet 70 C1851100
MedGen 40 C1851100
MeSH 42 D017880

Summaries for Laurin-Sandrow Syndrome

UniProtKB/Swiss-Prot : 66 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 hypertelorism, finger syndactyly and hydrocephalus. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone.

Description from OMIM: 135750

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 61)
id Related Disease Score Top Affiliating Genes
1 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.6
2 cataract 15, multiple types 11.6
3 cataract 11.4
4 cerulean cataract 11.3
5 brain edema 11.0
6 diabetes insipidus, nephrogenic 10.9
7 bullous keratopathy 10.9
8 presbyopia 10.9
9 meniere's disease 10.9
10 early-onset nuclear cataract 10.9
11 cataract 25 10.9
12 hydrops, lactic acidosis, and sideroblastic anemia 10.9
13 cataract 44 10.9
14 impaired renal function disease 10.9
15 mature cataract 10.9
16 aplasia of lacrimal and salivary glands 10.9
17 eye accommodation disease 10.9
18 dysferlinopathy 10.9
19 cataract 16, multiple types 10.9
20 lens disease 10.9
21 cataract, polymorphic and lamellar 10.9
22 polydactyly 10.2
23 localized lichen myxedematosus with mixed features of different subtypes 10.0 LMBR1 SHH
24 congenital pseudoarthrosis of the fibula 10.0 LMBR1 SHH
25 congenital pseudoarthrosis of the radius 10.0 LMBR1 SHH
26 metastatic insulinoma 10.0 LMBR1 ZRS
27 postaxial polydactyly type a, bilateral 10.0 LMBR1 SHH
28 postaxial polydactyly of toes, unilateral 10.0 LMBR1 SHH
29 hypoplastic or aplastic tibia with polydactyly 10.0 LMBR1 SHH
30 currarino syndrome 10.0 LMBR1 SHH
31 syndactyly, type iv 9.9 LMBR1 SHH
32 hypoparathyroidism 9.9 LMBR1 SHH
33 autosomal genetic disease 9.9 LMBR1 SHH
34 ugt2b15-related altered drug metabolism 9.8 LMBR1 SHH ZRS
35 fibrous dysplasia 9.8 LMBR1 SHH
36 nephrotic syndrome 9.8
37 multiple myeloma 9.8
38 horner's syndrome 9.7 LMBR1 MIPOL1 SHH
39 clear cell papillary renal cell carcinoma 9.6
40 arthritis 9.6
41 rheumatoid arthritis 9.6
42 bipolar disorder 9.6
43 lung cancer 9.6
44 dermatitis 9.6
45 hiv-1 9.6
46 hepatitis 9.6
47 ischemia 9.6
48 hodgkin lymphoma 9.6
49 hereditary hemorrhagic telangiectasia 9.6
50 atopic dermatitis 9.6

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



Diseases related to Laurin-Sandrow Syndrome

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Symptoms by clinical synopsis from OMIM:

135750

Clinical features from OMIM:

135750

Human phenotypes related to Laurin-Sandrow Syndrome:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
3 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
4 intellectual disability 56 32 Occasional (29-5%) HP:0001249
5 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
6 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
7 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
8 underdeveloped nasal alae 56 32 Frequent (79-30%) HP:0000430
9 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
10 abnormality of the metacarpal bones 56 32 Very frequent (99-80%) HP:0001163
11 downturned corners of mouth 56 32 Occasional (29-5%) HP:0002714
12 preaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001177
13 triphalangeal thumb 56 32 Very frequent (99-80%) HP:0001199
14 toe syndactyly 56 32 Very frequent (99-80%) HP:0001770
15 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
16 tarsal synostosis 56 32 Very frequent (99-80%) HP:0008368
17 talipes 56 32 Frequent (79-30%) HP:0001883
18 aplasia/hypoplasia of the thumb 56 32 Very frequent (99-80%) HP:0009601
19 prominent nose 56 32 Frequent (79-30%) HP:0000448
20 short columella 56 32 Frequent (79-30%) HP:0002000
21 abnormality of the wrist 56 32 Frequent (79-30%) HP:0003019
22 absent radius 56 32 Frequent (79-30%) HP:0003974
23 absent tibia 56 32 Frequent (79-30%) HP:0009556
24 preaxial foot polydactyly 56 32 Very frequent (99-80%) HP:0001841
25 fibular duplication 56 32 Frequent (79-30%) HP:0010503
26 mirror image polydactyly 56 32 Very frequent (99-80%) HP:0010689
27 limb duplication 56 32 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 56 Frequent (79-30%)
32 broad foot 32 HP:0001769
33 patellar aplasia 32 HP:0006443
34 syndactyly 32 HP:0001159

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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

Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

id Genetic test Affiliating Genes
1 Laurin-Sandrow Syndrome 29

Anatomical Context for Laurin-Sandrow Syndrome

MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

39
Bone

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.320-5565_423+10975dup duplication Pathogenic GRCh37 Chromosome 7, 156578108: 156594751
2 LMBR1 NG_009240.1: g.80271_127047dup46777 duplication Pathogenic GRCh37 Chromosome 7, 156563856: 156610632
3 LMBR1 NG_009240.1: g.44153_120123dup75971 duplication Pathogenic GRCh37 Chromosome 7, 156570780: 156646750

Expression for Laurin-Sandrow Syndrome

Search GEO for disease gene expression data 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:

id Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.62 LMBR1 SHH

Sources for Laurin-Sandrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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