MCID: LRN006
MIFTS: 35

Laurin-Sandrow Syndrome malady

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

Aliases & Classifications for Laurin-Sandrow Syndrome

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Sources:
49OMIM, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 11diseasecard, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 49 45 51 67 65
Tetramelic Mirror-Image Polydactyly 11 45 67
Sandrow Syndrome 45 51 67
Mirror Hands and Feet with Nasal Defects 45 67
Laurin Sandrow Syndrome 45 24
Duplication of Fibula and Ulna with Absence of Tibia and Radius 67
Mirror Hands and Feets-Nasal Defects Syndrome 51
 
Fibula Ulna Duplication Tibia Radius Absence 45
Laurin-Sandrow Syndrome, Segmental 65
Segmental Laurin-Sandrow Syndrome 67
Mirror-Image Polydactyly 67
Tmip 67
Lss 67
Mip 67

Characteristics:

Orphanet epidemiological data:

51
laurin-sandrow syndrome:
Inheritance: Autosomal dominant

HPO:

61
laurin-sandrow syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 135750
Orphanet51 2378
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 C535689
UMLS via Orphanet66 C1851100
MedGen34 C1851100
MeSH36 D017880
UMLS65 C1851100, C1851101

Summaries for Laurin-Sandrow Syndrome

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UniProtKB/Swiss-Prot:67 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 syndactyly, type iv and hypoplastic or aplastic tibia with polydactyly, and has symptoms including aplasia/hypoplasia of the thumb, tarsal synostosis and finger syndactyly. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Affiliated tissues include testes, bone and breast.

Description from OMIM:49 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly, type iv31.3LMBR1, LSS, SHH
2hypoplastic or aplastic tibia with polydactyly31.3LMBR1, LSS, SHH
3polydactyly, preaxial type ii31.3LMBR1, LSS, SHH
4clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly13.0
5cataract 15, multiple types11.9
6cataract11.6
7cataract 4411.6
8holoprosencephaly11.5
9brain edema11.5
10diabetes insipidus, nephrogenic11.4
11meniere's disease11.4
12cerulean cataract11.4
13spondylolisthesis11.4
14bone deterioration disease11.4
15bone structure disease11.4
16dependent personality disorder11.4
17dysgraphia11.4
18adult lymphoma11.4
19candida glabrata11.4
20eye accommodation disease11.3
21lens disease11.3
22presbyopia11.3
23diabetic cataract11.3
24mature cataract11.3
25acheiropody11.2
26cataract, polymorphic and lamellar11.2
27early-onset lamellar cataract11.2
28early-onset sutural cataract11.2
29early-onset nuclear cataract11.2
30total early-onset cataract11.2
31early-onset posterior polar cataract11.2
32hereditary spastic paraplegia10.6
33insulinoma10.6
34lymphoma10.6
35prostatitis10.6
36histoplasmosis10.6
37gallbladder cancer10.6
38internuclear ophthalmoplegia10.6
39ophthalmoplegia10.6
40paraplegia10.6
41primary malignant lymphoma10.6
42spasticity10.6
43postpartum depression10.6
44endotheliitis10.4
45porphyria10.3
46head and neck carcinoma10.3
47acute porphyria10.3
48pancreatitis10.2
49thiemann disease, familial form10.0LMBR1, SHH
50patella aplasia/hypoplasia, unilateral10.0LMBR1, 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

Symptoms:

 51 (show all 26)
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • preaxial polydactyly (hand)
  • thumb hypoplasia/aplasia/absence
  • tarsal anomaly/fusion/synostosis
  • preaxial polydactyly of toes/big toe duplication
  • syndactyly of toes
  • autosomal dominant inheritance
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • thin/hypoplastic ala nasi
  • short columella/depressed nasal tip
  • limb duplication/dimelia/ulnar/fibular dimelia/diplopodia
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • wrist/carpal anomalies
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • talipes-varus/metatarsal varus
  • restricted joint mobility/joint stiffness/ankylosis
  • hypertelorism
  • downturned mouth
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Laurin-Sandrow Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
2 tarsal synostosis hallmark (90%) HP:0008368
3 finger syndactyly hallmark (90%) HP:0006101
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 toe syndactyly hallmark (90%) HP:0001770
6 preaxial hand polydactyly hallmark (90%) HP:0001177
7 abnormality of the metacarpal bones hallmark (90%) HP:0001163
8 limb duplication typical (50%) HP:0100524
9 aplasia/hypoplasia of the radius typical (50%) HP:0006501
10 abnormality of the wrist typical (50%) HP:0003019
11 abnormality of the tibia typical (50%) HP:0002992
12 talipes typical (50%) HP:0001883
13 limitation of joint mobility typical (50%) HP:0001376
14 underdeveloped nasal alae typical (50%) HP:0000430
15 cognitive impairment occasional (7.5%) HP:0100543
16 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
17 downturned corners of mouth occasional (7.5%) HP:0002714
18 muscular hypotonia occasional (7.5%) HP:0001252
19 hypertelorism occasional (7.5%) HP:0000316
20 hydrocephalus occasional (7.5%) HP:0000238
21 cryptorchidism occasional (7.5%) HP:0000028
22 fibular duplication HP:0010503
23 absent tibia HP:0009556
24 patellar aplasia HP:0006443
25 absent radius HP:0003974
26 short foot HP:0001773
27 broad foot HP:0001769
28 triphalangeal thumb HP:0001199
29 hand polydactyly HP:0001161
30 syndactyly HP:0001159
31 underdeveloped nasal alae HP:0000430
32 abnormality of the face HP:0000271

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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Anatomical Context for Laurin-Sandrow Syndrome

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MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

33
Testes, Bone, Breast

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
Role of complement component C4 in treatment response and disease progression in chronic hepatitis C patients. (25573496)
2015
2
Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases. (25468148)
2015
3
Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivation. (23378296)
2013
4
Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis. (19861144)
2010
5
Surgical treatment for recurrent spontaneous pneumothorax during twin pregnancy under video-assisted thoracoscopic surgery (VATS). (22263040)
2010
6
Relationship between gamma-interferon and interleukin-17 in Chlamydia trachomatis reactive arthritis. (19917178)
2009
7
c-Cbl binds to tyrosine-phosphorylated neurotrophin receptor p75 and induces its ubiquitination. (15337528)
2004
8
Permeation and pathways of human calcitonin (hCT) across excised bovine nasal mucosa. (9533651)
1998
9
The study of G6PD in erythrocyte and lens in senile and presenile cataract. (1286674)
1992

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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Sources for Laurin-Sandrow Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet