LSS
MCID: LRN006
MIFTS: 52

Laurin-Sandrow Syndrome (LSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Laurin-Sandrow Syndrome

MalaCards integrated aliases for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 57 11 19 58 73 28 5 43 14 38 71
Tetramelic Mirror-Image Polydactyly 57 11 19 73 12
Sandrow Syndrome 57 11 19 58 73
Mirror-Image Polydactyly 57 11 58 73
Mirror Hands and Feet with Nasal Defects 57 19 73
Tmip 57 11 73
Mirror Hands and Feets-Nasal Defects Syndrome 11 58
Lss 57 73
Mip 57 73
Fibula and Ulna, Duplication of, with Absence of Tibia and Radius 57
Mipduplication of Fibuland Ulna with Absence of Tibia and Radius 11
Duplication of Fibula and Ulna with Absence of Tibia and Radius 73
Fibula Ulna Duplication Tibia Radius Absence 19
Miccor Hands and Feet with Nasal Defects 11
Laurin-Sandrow Syndrome, Segmental 71
Segmental Laurin-Sandrow Syndrome 73
Laurin Sandrow Syndrome 19

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
limb malformations are variable


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111350
OMIM® 57 135750
SNOMED-CT 68 715440003
MESH via Orphanet 44 C535689
ICD10 via Orphanet 32 Q87.2
UMLS via Orphanet 72 C1851100
MedGen 40 C1851100
UMLS 71 C1851100 C1851101

Summaries for Laurin-Sandrow Syndrome

GARD: 19 Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

MalaCards based summary: Laurin-Sandrow Syndrome, also known as tetramelic mirror-image polydactyly, is related to polydactyly, preaxial ii and tibial hemimelia. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Bardet-Biedl syndrome and Signaling by Hedgehog. Affiliated tissues include bone, thymus and breast, and related phenotypes are preaxial hand polydactyly and finger syndactyly

Orphanet 58 Laurin-sandrow syndrome: Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

Mirror-image polydactyly: A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.

Disease Ontology: 11 A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has material basis in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3.

OMIM®: 57 Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014). (135750) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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).

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 600)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 30.7 ZRS SHH LMBR1
2 tibial hemimelia 30.7 PITX1 GLI3
3 clubfoot 29.8 PITX1 HOXD13 HOXD12 HOXD11
4 polydactyly, postaxial, type a1 29.6 ZNF141 IQCE GLI3
5 synostosis 29.4 ZP2 SHH LMBR1 IHH HOXD13 GLI3
6 syndactyly, type iv 29.1 ZRS ZP2 ZNF141 SHH RNF32 LMBR1
7 chromosome 2q35 duplication syndrome 28.6 ZP2 SHH RNF32 LMBR1 IQCE IHH
8 polydactyly 28.5 ZRS ZNF141 SHH RNF32 PITX1 MIPOL1
9 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.9
10 cataract 15, multiple types 11.4
11 hypotrichosis 14 11.4
12 alopecia-intellectual disability syndrome 4 11.3
13 cataract 44 11.2
14 brain edema 11.2
15 cataract 11.2
16 hypotrichosis 11.1
17 cystic fibrosis 11.1
18 alopecia 11.1
19 nephrogenic diabetes insipidus 11.1
20 holoprosencephaly 11.1
21 spinal stenosis 11.1
22 intraocular pressure quantitative trait locus 11.0
23 diabetes insipidus 11.0
24 meniere disease 11.0
25 presbyopia 11.0
26 inner ear disease 11.0
27 priapism 11.0
28 lewis-sumner syndrome 10.9
29 spondylolisthesis 10.9
30 spondylosis 10.9
31 diffuse idiopathic skeletal hyperostosis 10.9
32 eye accommodation disease 10.9
33 lens disease 10.9
34 diabetic cataract 10.9
35 hydrarthrosis 10.9
36 hypotrichosis 2 10.8
37 palmoplantar keratoderma and congenital alopecia 2 10.8
38 pituitary adenoma 2, growth hormone-secreting 10.8
39 frontometaphyseal dysplasia 1 10.8
40 bardet-biedl syndrome 8 10.8
41 frontometaphyseal dysplasia 2 10.8
42 bone deterioration disease 10.8
43 bone structure disease 10.8
44 alopecia-mental retardation syndrome 10.8
45 otopalatodigital syndrome spectrum disorder 10.8
46 frontometaphyseal dysplasia 10.8
47 severe congenital neutropenia 2 10.8
48 dependent personality disorder 10.8
49 cauda equina syndrome 10.8
50 mature cataract 10.8

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



Diseases related to Laurin-Sandrow Syndrome

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Human phenotypes related to Laurin-Sandrow Syndrome:

58 30 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preaxial hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001177
2 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
3 triphalangeal thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001199
4 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
5 aplasia/hypoplasia of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009601
6 preaxial foot polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001841
7 mirror image polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010689
8 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
9 tarsal synostosis 30 Hallmark (90%) HP:0008368
10 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
11 talipes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001883
12 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
13 underdeveloped nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000430
14 short columella 58 30 Frequent (33%) Frequent (79-30%)
HP:0002000
15 prominent nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000448
16 absent radius 58 30 Frequent (33%) Frequent (79-30%)
HP:0003974
17 abnormality of the wrist 58 30 Frequent (33%) Frequent (79-30%)
HP:0003019
18 absent tibia 58 30 Frequent (33%) Frequent (79-30%)
HP:0009556
19 fibular duplication 58 30 Frequent (33%) Frequent (79-30%)
HP:0010503
20 limb duplication 58 30 Frequent (33%) Frequent (79-30%)
HP:0100524
21 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
22 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
23 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
24 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
25 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
26 downturned corners of mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002714
27 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
28 abnormality of the face 30 HP:0000271
29 hand polydactyly 30 HP:0001161
30 abnormality of the metacarpal bones 58 Very frequent (99-80%)
31 abnormality of the nose 58 Frequent (79-30%)
32 short foot 30 HP:0001773
33 tarsal synostosis  58 Very frequent (99-80%)
34 broad foot 30 HP:0001769
35 patellar aplasia 30 HP:0006443
36 syndactyly 30 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Hands:
triphalangeal thumb
syndactyly
autopodial duplication, symmetrical
duplication of bones of the hand
dysplastic carpal bones
more
Skeletal Feet:
syndactyly
autopodial duplication, symmetrical
polydactyly, preaxial or postaxial
short, broad feet
dysplastic tarsal bones
more
Skeletal Limbs:
absent radius
absent tibia
fibular duplication
zeugopodial duplication, symmetrical
ulnar duplication
more
Head And Neck Nose:
hypoplastic alae nasi
cleft nares, bilateral
grooved columella

Clinical features from OMIM®:

135750 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10 BHLHA9 GLI3 HAND2 HOXD11 HOXD12 HOXD13
2 no phenotypic analysis MP:0003012 9.87 GLI3 HAND2 HOXD11 HOXD13 IHH KDM4C
3 embryo MP:0005380 9.76 GLI3 HAND2 HOXD13 IFT52 IHH PITX1
4 digestive/alimentary MP:0005381 9.5 GLI3 HAND2 HOXD12 HOXD13 IHH PITX1
5 skeleton MP:0005390 9.36 CSPP1 GLI3 HAND2 HOXD11 HOXD12 HOXD13

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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

Cochrane evidence based reviews: laurin-sandrow syndrome

Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

# Genetic test Affiliating Genes
1 Laurin-Sandrow Syndrome 28 LMBR1

Anatomical Context for Laurin-Sandrow Syndrome

Organs/tissues related to Laurin-Sandrow Syndrome:

MalaCards : Bone, Thymus, Breast, Lung, Heart, Brain

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 62 57 5
24456159 2014
2
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. 62 57 5
16059937 2005
3
"Laurin-Sandrow Syndrome - a review of the literature and classification system". 62 57
35256564 2022
4
Laurin-Sandrow syndrome: review and redefinition. 62 57
18792985 2008
5
Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. 62 57
15389704 2004
6
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. 62 57
11954550 2002
7
Laurin-Sandrow syndrome with additional associated manifestations. 62 57
11169557 2001
8
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. 62 57
9339355 1997
9
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. 62 57
9099832 1997
10
Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. 62 57
8986279 1997
11
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. 62 57
8733058 1996
12
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. 62 57
8064822 1994
13
Sandrow syndrome of mirror hands and feet and facial abnormalities. 62 57
8387243 1993
14
Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. 57
8387244 1993
15
Hereditary ulnar and fibular dimelia with peculiar facies. A case report. 57
4314818 1970
16
BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT. 57
14104303 1964
17
Laurin-Sandrow Syndrome: A Case Report and Review of Literature. 62
35965362 2022
18
Predictors of portal vein thrombosis after laparoscopic splenectomy and azygoportal disconnection in hepatitis B cirrhosis: a prospective study. 62
34518951 2022
19
Perfusion-weighted techniques in MRI grading of pediatric cerebral tumors: efficiency of dynamic susceptibility contrast and arterial spin labeling. 62
33506349 2021
20
Evaluating the effects of temperature and time on heterocyclic aromatic amine profiles in roasted pork using combined UHPLC-MS/MS and multivariate analysis. 62
33642001 2021
21
A novel magnetic solid-phase extraction method for detection of 14 heterocyclic aromatic amines by UPLC-MS/MS in meat products. 62
32791432 2021
22
Periangular transmasseteric infraparotid approach in the treatment of condylar-base and low condylar‑neck fractures. 62
33618526 2021
23
Laurin-Sandrow syndrome. 62
34887989 2021
24
Preliminary Application of a Quantitative Collateral Assessment Method in Acute Ischemic Stroke Patients With Endovascular Treatments: A Single-Center Study. 62
35002909 2021
25
Collateral Status in Ischemic Stroke: A Comparison of Computed Tomography Angiography, Computed Tomography Perfusion, and Digital Subtraction Angiography. 62
33196604 2020
26
Accumulation of heterocyclic amines across low-temperature sausage processing stages as revealed by UPLC-MS/MS. 62
33233245 2020
27
Effects of amides from pungent spices on the free and protein-bound heterocyclic amine profiles of roast beef patties by UPLC-MS/MS and multivariate statistical analysis. 62
32527489 2020
28
Comparison of Conventional and Pontic Fixed Partial Dentures Over Implants Using the Finite Element Method: Three-Dimensional Analysis of Cortical and Medullary Bone Stress. 62
32030425 2020
29
CT angiography with 15 mL contrast material injection on time-resolved imaging for endovascular abdominal aortic aneurysm repair. 62
32179423 2020
30
Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma. 62
31609475 2020
31
A variant form of Laurin-Sandrow syndrome in an adult patient. 62
31813304 2020
32
Noninvasive Collateral Flow Velocity Imaging in Acute Ischemic Stroke: Intraindividual Comparison of 4D-CT Angiography with Digital Subtraction Angiography. 62
30665249 2019
33
A "one-stop-shop" 4D CTA protocol using 320-row CT for advanced imaging in acute ischemic stroke: a technical note. 62
30770970 2019
34
Singular value-guided similarity filter improves detection of vessels in low-dose dynamic CT angiography: application to DIEP flap studies. 62
30022767 2018
35
Automatic Temporal Segmentation of Vessels of the Brain Using 4D ASL MRA Images. 62
28991731 2018
36
Preliminary study of time maximum intensity projection computed tomography imaging for the detection of early ischemic change in patient with acute ischemic stroke. 62
29489691 2018
37
Formation of Free and Protein-Bound Heterocyclic Amines in Roast Beef Patties Assessed by UPLC-MS/MS. 62
28513160 2017
38
Inhibitory profiles of chilli pepper and capsaicin on heterocyclic amine formation in roast beef patties. 62
27979221 2017
39
Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. 62
28234639 2017
40
Effect of phenolic compounds from spices consumed in China on heterocyclic amine profiles in roast beef patties by UPLC-MS/MS and multivariate analysis. 62
26859433 2016
41
The velocity of collateral filling predicts recanalization in acute ischemic stroke after intravenous thrombolysis. 62
27296511 2016
42
The Prognostic Value of a Four-Dimensional CT Angiography-Based Collateral Grading Scale for Reperfusion Therapy in Acute Ischemic Stroke Patients. 62
27505435 2016
43
High MMP-9 Expression May Contribute to Retroprosthetic Membrane Formation after KPro Implantation in Rabbit Corneal Alkali Burn Model. 62
26949542 2016
44
[Role of vascular remodeling markers in the development of osteoporosis in idiopathic pulmonary arterial hypertension]. 62
27735916 2016
45
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing. 62
25382487 2015
46
Effect of Saliva Contamination on Microleakage Beneath Bonded Brackets: A Comparison Between Two Moisture-Tolerant Bonding Systems. 62
27252758 2015
47
Optimization of polysaccharides extraction from Tricholoma mongolicum Imai and their antioxidant and antiproliferative activities. 62
26256191 2015
48
Determination of the Middle Cerebral Artery Occlusion Length in Acute Stroke: Contribution of 4D CT Angiography and Importance for Thrombolytic Efficacy Prediction. 62
24705991 2015
49
Wavelet-based calculation of cerebral angiographic data from time-resolved CT perfusion acquisitions. 62
25716940 2015
50
Free-breathing diffusion tensor imaging and tractography of the human heart in healthy volunteers using wavelet-based image fusion. 62
25216480 2015

Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMBR1 and overlap with 1 gene(s) NM_022458.3(LMBR1):c.320-5565_423+10975dup DUP Pathogenic
157546 GRCh37: 7:156578108-156594751
GRCh38: 7:156785414-156802057
2 LMBR1 and overlap with 1 gene(s) NC_000007.13:g.156563856_156610632dup DUP Pathogenic
157547 GRCh37: 7:156563856-156610632
GRCh38: 7:156771162-156817938
3 LMBR1 and overlap with 1 gene(s) NC_000007.13:g.156570780_156646750dup DUP Pathogenic
157548 GRCh37: 7:156570780-156646750
GRCh38: 7:156778086-156854056

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:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of DNA-templated transcription GO:0006355 10.26 GLI3 HAND2 HOXD11 HOXD12 HOXD13 PITX1
2 skeletal system development GO:0001501 10.17 PITX1 IHH HOXD13 HOXD12
3 smoothened signaling pathway GO:0007224 10.08 SHH IHH IFT52 GLI3
4 odontogenesis of dentin-containing tooth GO:0042475 10.06 GLI3 HAND2 SHH
5 roof of mouth development GO:0060021 10.01 SHH HAND2 GLI3
6 heart looping GO:0001947 10.01 SHH IHH IFT52 HAND2
7 branching involved in ureteric bud morphogenesis GO:0001658 10 SHH HOXD11 GLI3
8 self proteolysis GO:0097264 9.94 SHH IHH
9 anatomical structure development GO:0048856 9.93 SHH HOXD11 GLI3
10 positive regulation of T cell differentiation in thymus GO:0033089 9.93 IHH SHH
11 negative thymic T cell selection GO:0045060 9.92 GLI3 SHH
12 artery development GO:0060840 9.91 SHH GLI3
13 embryonic digestive tract morphogenesis GO:0048557 9.91 SHH IHH GLI3
14 tongue development GO:0043586 9.9 HAND2 GLI3
15 alpha-beta T cell differentiation GO:0046632 9.89 SHH GLI3
16 camera-type eye development GO:0043010 9.88 SHH IHH GLI3
17 dorsal/ventral pattern formation GO:0009953 9.87 GLI3 HOXD11 IFT52 SHH
18 negative regulation of T cell differentiation in thymus GO:0033085 9.85 SHH IHH
19 positive regulation of alpha-beta T cell differentiation GO:0046638 9.85 SHH IHH GLI3
20 embryonic limb morphogenesis GO:0030326 9.84 SHH HOXD13 GLI3
21 prostate gland development GO:0030850 9.82 SHH HOXD13
22 hindgut morphogenesis GO:0007442 9.81 GLI3 SHH
23 limb morphogenesis GO:0035108 9.8 ZNF141 IQCE HOXD13 GLI3
24 intein-mediated protein splicing GO:0016539 9.76 SHH IHH
25 spinal cord dorsal/ventral patterning GO:0021513 9.67 GLI3 SHH
26 anatomical structure formation involved in morphogenesis GO:0048646 9.65 SHH GLI3
27 negative regulation of alpha-beta T cell differentiation GO:0046639 9.63 SHH IHH GLI3
28 system development GO:0048731 9.62 IHH SHH
29 embryonic digit morphogenesis GO:0042733 9.53 SHH LMBR1 IHH IFT52 HOXD13 HOXD12
30 pattern specification process GO:0007389 9.5 SHH IHH HOXD13 HOXD12 GLI3

Molecular functions related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.16 ZNF141 PITX1 HOXD13 HOXD12 HOXD11 HAND2
2 sequence-specific double-stranded DNA binding GO:1990837 9.93 PITX1 HOXD13 HOXD12 HOXD11 HAND2 GLI3
3 patched binding GO:0005113 9.26 SHH IHH
4 cholesterol-protein transferase activity GO:0140853 8.92 SHH IHH

Sources for Laurin-Sandrow Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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