Laurin-Sandrow Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Smell/Taste diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0111350

OMIM® ⁵⁷ 135750

MeSH ⁴³ C535689 D017880

SNOMED-CT ⁶⁸ 715440003

MESH via Orphanet ⁴⁴ C535689

ICD10 via Orphanet ³² Q87.2

UMLS via Orphanet ⁷² C1851100

Orphanet ⁵⁸ ORPHA2378 ORPHA498494

MedGen ⁴⁰ C1851100

UMLS ⁷¹ C1851100 C1851101

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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).

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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:

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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

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Drugs & Therapeutics for Laurin-Sandrow Syndrome

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

Cochrane evidence based reviews: laurin-sandrow syndrome

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Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

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

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Anatomical Context for Laurin-Sandrow Syndrome

Organs/tissues related to Laurin-Sandrow Syndrome:

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

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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	Lohan S...Klopocki E	24456159	2014
2	Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. ⁶² ⁵⁷ ⁵	Kjaer KW...Tommerup N	16059937	2005
3	"Laurin-Sandrow Syndrome - a review of the literature and classification system". ⁶² ⁵⁷	Buzea C...Boulanger N	35256564	2022
4	Laurin-Sandrow syndrome: review and redefinition. ⁶² ⁵⁷	Marino-Enriquez A...Rodriguez JI	18792985	2008
5	Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. ⁶² ⁵⁷	Innis JW...Hedera P	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	Kondoh S...Yoshiura K	11954550	2002
7	Laurin-Sandrow syndrome with additional associated manifestations. ⁶² ⁵⁷	Kantaputra PN	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	Matsumoto N...Niikawa N	9339355	1997
9	Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. ⁶² ⁵⁷	Matsumoto N...Niikawa N	9099832	1997
10	Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. ⁶² ⁵⁷	Kim KC...Ohashi H	8986279	1997
11	Mirror hands and feet: a further case of Laurin-Sandrow syndrome. ⁶² ⁵⁷	Hatchwell E...Dennis N	8733058	1996
12	Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. ⁶² ⁵⁷	Martinez-Frias ML...Gonzalez Moro L	8064822	1994
13	Sandrow syndrome of mirror hands and feet and facial abnormalities. ⁶² ⁵⁷	Kogekar N...Vockley J	8387243	1993
14	Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. ⁵⁷	Martin RA...Jones KL	8387244	1993
15	Hereditary ulnar and fibular dimelia with peculiar facies. A case report. ⁵⁷	Sandrow RE...Steel HH	4314818	1970
16	BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT. ⁵⁷	LAURIN CA...LABELLE P	14104303	1964
17	Laurin-Sandrow Syndrome: A Case Report and Review of Literature. ⁶²	Sathishkumar K...Anand S	35965362	2022
18	Predictors of portal vein thrombosis after laparoscopic splenectomy and azygoportal disconnection in hepatitis B cirrhosis: a prospective study. ⁶²	Wu LF...Jiang GQ	34518951	2022
19	Perfusion-weighted techniques in MRI grading of pediatric cerebral tumors: efficiency of dynamic susceptibility contrast and arterial spin labeling. ⁶²	Testud B...Stellmann JP	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	Yan Y...Jiang J	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	Shan S...Hu J	32791432	2021
22	Periangular transmasseteric infraparotid approach in the treatment of condylar-base and low condylar‑neck fractures. ⁶²	Hirjak D...Neff A	33618526	2021
23	Laurin-Sandrow syndrome. ⁶²	Palaniappan P...Baalann KP	34887989	2021
24	Preliminary Application of a Quantitative Collateral Assessment Method in Acute Ischemic Stroke Patients With Endovascular Treatments: A Single-Center Study. ⁶²	Cao R...Chen J	35002909	2021
25	Collateral Status in Ischemic Stroke: A Comparison of Computed Tomography Angiography, Computed Tomography Perfusion, and Digital Subtraction Angiography. ⁶²	Kauw F...Wintermark M	33196604	2020
26	Accumulation of heterocyclic amines across low-temperature sausage processing stages as revealed by UPLC-MS/MS. ⁶²	DiaodiaoYang...Zeng M	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	Xue C...Zeng M	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	Toniollo MB...Terada ASSD	32030425	2020
29	CT angiography with 15 mL contrast material injection on time-resolved imaging for endovascular abdominal aortic aneurysm repair. ⁶²	Horinouchi H...Murakami T	32179423	2020
30	Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma. ⁶²	Leong MML...Lung ML	31609475	2020
31	A variant form of Laurin-Sandrow syndrome in an adult patient. ⁶²	Buzea C...Boiangiu I	31813304	2020
32	Noninvasive Collateral Flow Velocity Imaging in Acute Ischemic Stroke: Intraindividual Comparison of 4D-CT Angiography with Digital Subtraction Angiography. ⁶²	Muehlen I...Doerfler A	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	Ognard J...Ben Salem D	30770970	2019
34	Singular value-guided similarity filter improves detection of vessels in low-dose dynamic CT angiography: application to DIEP flap studies. ⁶²	Pisana F...Kachelrie? M	30022767	2018
35	Automatic Temporal Segmentation of Vessels of the Brain Using 4D ASL MRA Images. ⁶²	Phellan R...Forkert ND	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	Murayama K...Toyama H	29489691	2018
37	Formation of Free and Protein-Bound Heterocyclic Amines in Roast Beef Patties Assessed by UPLC-MS/MS. ⁶²	Chen J...Zeng M	28513160	2017
38	Inhibitory profiles of chilli pepper and capsaicin on heterocyclic amine formation in roast beef patties. ⁶²	Zeng M...Chen J	27979221	2017
39	Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. ⁶²	Roman P...Lypka M	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	Zeng M...Chen J	26859433	2016
41	The velocity of collateral filling predicts recanalization in acute ischemic stroke after intravenous thrombolysis. ⁶²	Zhang S...Lou M	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	Zhang S...Lou M	27505435	2016
43	High MMP-9 Expression May Contribute to Retroprosthetic Membrane Formation after KPro Implantation in Rabbit Corneal Alkali Burn Model. ⁶²	Gao M...Chen Y	26949542	2016
44	[Role of vascular remodeling markers in the development of osteoporosis in idiopathic pulmonary arterial hypertension]. ⁶²	Nevzorova VA...Khludeeva EA	27735916	2016
45	Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing. ⁶²	Vanlerberghe C...Escande F	25382487	2015
46	Effect of Saliva Contamination on Microleakage Beneath Bonded Brackets: A Comparison Between Two Moisture-Tolerant Bonding Systems. ⁶²	Toodehzaeim MH...Rezaie N	27252758	2015
47	Optimization of polysaccharides extraction from Tricholoma mongolicum Imai and their antioxidant and antiproliferative activities. ⁶²	Wang J...Shen L	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	Baxa J...Ferda J	24705991	2015
49	Wavelet-based calculation of cerebral angiographic data from time-resolved CT perfusion acquisitions. ⁶²	Havla L...Dietrich O	25716940	2015
50	Free-breathing diffusion tensor imaging and tractography of the human heart in healthy volunteers using wavelet-based image fusion. ⁶²	Wei H...Zhu Y	25216480	2015

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Genes for Laurin-Sandrow Syndrome

Genes related to Laurin-Sandrow Syndrome (2 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LMBR1	Limb Development Membrane Protein 1	Protein Coding	1374.98	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	16059937 24456159
2	PITX1	Paired Like Homeodomain 1	Protein Coding	31.56	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁴	22258522
3	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	23.79	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	ZRS	ZPA Regulatory Sequence	Functional Element	17.55	GeneCards inferred via : Publications Summaries (show sections)
5	MIPOL1	Mirror-Image Polydactyly 1	Protein Coding	15.18	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
6	KDM4C	Lysine Demethylase 4C	Protein Coding	9.7	DISEASES inferred ¹⁴ ¹⁴
7	ZP2	Zona Pellucida Glycoprotein 2	Protein Coding	6.9	DISEASES inferred ¹⁴
8	HOXD12	Homeobox D12	Protein Coding	5.9	DISEASES inferred ¹⁴
9	ZNF141	Zinc Finger Protein 141	Protein Coding	5.78	DISEASES inferred ¹⁴
10	HOXD11	Homeobox D11	Protein Coding	5.78	DISEASES inferred ¹⁴
11	GLI3	GLI Family Zinc Finger 3	Protein Coding	5.72	DISEASES inferred ¹⁴
12	IQCE	IQ Motif Containing E	Protein Coding	5.68	DISEASES inferred ¹⁴
13	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	5.42	DISEASES inferred ¹⁴
14	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	5.4	DISEASES inferred ¹⁴
15	EXOC6B	Exocyst Complex Component 6B	Protein Coding	5.38	DISEASES inferred ¹⁴
16	RNF32	Ring Finger Protein 32	Protein Coding	5.24	DISEASES inferred ¹⁴
17	HOXD13	Homeobox D13	Protein Coding	5.08	DISEASES inferred ¹⁴
18	IFT52	Intraflagellar Transport 52	Protein Coding	4.93	DISEASES inferred ¹⁴
19	CSPP1	Centrosome And Spindle Pole Associated Protein 1	Protein Coding	4.77	DISEASES inferred ¹⁴
20	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	4.77	DISEASES inferred ¹⁴

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Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	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

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Expression for Laurin-Sandrow Syndrome

Search GEO for disease gene expression data for Laurin-Sandrow Syndrome.

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Pathways for Laurin-Sandrow Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.72	IQCE IFT52 GLI3
2	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	11.44	SHH IQCE IHH IFT52 GLI3
3	Development of ureteric collection system ⁷⁴	11.15	SHH HOXD11 GLI3
4	Genes controlling nephrogenesis ⁷⁴	11.08	SHH HOXD11 GLI3
5	Hedgehog signaling pathway ⁷⁴	10.96	SHH IHH GLI3
6	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	10.69	SHH IHH GLI3
7	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.37	SHH GLI3

Sources

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

Sources for Laurin-Sandrow Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LSS MCID: LRN006 MIFTS: 52	Laurin-Sandrow Syndrome (LSS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
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Laurin-Sandrow Syndrome (LSS)

Aliases & Classifications for Laurin-Sandrow Syndrome

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GO Terms for Laurin-Sandrow Syndrome

Biological processes related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

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

Sources for Laurin-Sandrow Syndrome