LOCS
MCID: LRY022
MIFTS: 43

Laryngoonychocutaneous Syndrome (LOCS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Laryngoonychocutaneous Syndrome

MalaCards integrated aliases for Laryngoonychocutaneous Syndrome:

Name: Laryngoonychocutaneous Syndrome 57 20 43 72 13 39 70
Laryngo-Onycho-Cutaneous Syndrome 20 43 58 29 6
Logic Syndrome 57 20 43 58
Locs 57 20 43 72
Shabbir Syndrome 43 58
Loc Syndrome 43 58
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 58
Laryngo Onycho Cutaneous Syndrome 36
Laryngo-Onychocutaneous Syndrome 70
Jeb-Loc 43

Characteristics:

Orphanet epidemiological data:

58
laryngo-onycho-cutaneous syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
laryngoonychocutaneous syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 245660
KEGG 36 H00813
ICD10 via Orphanet 33 Q81.8
UMLS via Orphanet 71 C1328355
Orphanet 58 ORPHA2407
MedGen 41 C1328355
UMLS 70 C0457017 C1328355

Summaries for Laryngoonychocutaneous Syndrome

MedlinePlus Genetics : 43 Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.

MalaCards based summary : Laryngoonychocutaneous Syndrome, also known as laryngo-onycho-cutaneous syndrome, is related to epidermolysis bullosa and junctional epidermolysis bullosa. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (Laminin Subunit Alpha 3), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Propofol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotypes are skin ulcer and abnormality of the eye

KEGG : 36 Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane.

UniProtKB/Swiss-Prot : 72 Laryngoonychocutaneous syndrome: Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx.

Wikipedia : 73 Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder... more...

More information from OMIM: 245660

Related Diseases for Laryngoonychocutaneous Syndrome

Diseases related to Laryngoonychocutaneous Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 10.5
2 junctional epidermolysis bullosa 10.5
3 cataract 10.5
4 yemenite deaf-blind hypopigmentation syndrome 10.3
5 epidermolysis bullosa dystrophica 10.3
6 epidermolysis bullosa, junctional, non-herlitz type 10.2
7 epidermolysis bullosa, junctional, herlitz type 10.2
8 choanal atresia, posterior 10.2
9 familial hypocalciuric hypercalcemia 10.2
10 aggressive periodontitis 10.2
11 conjunctival disease 10.2
12 periodontitis 10.2
13 eye disease 9.9
14 senile cataract 9.9
15 amnestic disorder 9.9
16 depersonalization disorder 9.9
17 limbal stem cell deficiency 9.9

Graphical network of the top 20 diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to Laryngoonychocutaneous Syndrome

Symptoms & Phenotypes for Laryngoonychocutaneous Syndrome

Human phenotypes related to Laryngoonychocutaneous Syndrome:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 skin ulcer 31 HP:0200042
2 abnormality of the eye 31 HP:0000478
3 weak cry 31 HP:0001612
4 hoarse cry 31 HP:0001615
5 amelogenesis imperfecta 31 HP:0000705
6 recurrent loss of toenails and fingernails 31 HP:0008390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Voice:
weak cry
hoarse cry

Nails:
recurrent loss of toenails and fingernails

Misc:
onset in early infancy
death common in childhood

Eyes:
conjunctival scarring

Teeth:
amelogenesis imperfecta

Skin:
skin ulceration
dermal granuloma

Resp:
vocal cord granuloma

Clinical features from OMIM®:

245660 (Updated 05-Apr-2021)

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

Drugs for Laryngoonychocutaneous Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
3 Anesthetics Phase 4
4 Anesthetics, General Phase 4
5 Hypnotics and Sedatives Phase 4
6 Anesthetics, Intravenous Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Adrenergic Agonists Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Adrenergic Agents Phase 4
11 Analgesics Phase 4
12
Iron Approved Phase 3 7439-89-6 23925 29936
13
Deferoxamine Approved, Investigational Phase 3 70-51-9 2973
14 Astragalus Phase 3
15 Pharmaceutical Solutions Phase 3
16 Chelating Agents Phase 3
17 Iron Chelating Agents Phase 3
18
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
19
Vincristine Approved, Investigational Phase 1, Phase 2 2068-78-2, 57-22-7 5978
20
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
21
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
22
Procarbazine Approved, Investigational Phase 1, Phase 2 671-16-9 4915
23 Angiogenesis Inhibitors Phase 1, Phase 2
24 Immunologic Factors Phase 1, Phase 2
25
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
26
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
27
Ketoconazole Approved, Investigational Phase 1 65277-42-1 47576
28
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
29 Cytochrome P-450 CYP3A Inhibitors Phase 1
30 Cytochrome P-450 Enzyme Inhibitors Phase 1
31 Anti-Infective Agents Phase 1
32 Antifungal Agents Phase 1
33 Tubulin Modulators Phase 1
34 Albumin-Bound Paclitaxel Phase 1
35 Antimitotic Agents Phase 1
36
Ethanol Approved 64-17-5 702
37
Morphine Approved, Investigational 57-27-2 5288826
38 Tin Fluorides
39 Hormone Antagonists
40 Hormones
41 Neurotransmitter Agents
42 Adrenocorticotropic Hormone
43 Melanocyte-Stimulating Hormones
44 Endorphins
45 beta-Endorphin

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Cost Effectiveness and Clinical Outcomes of Wound Closure Using V-Loc™ 90 Sutures. Unknown status NCT01574378 Phase 4
2 The Neural Mechanisms of Anesthesia and Human Consciousness (LOC-2013) Completed NCT01889004 Phase 4 Dexmedetomidine;Propofol
3 A Multi-Centre, Prospective, Randomized, Post Marketing Surveillance Study Comparing Cervical Arthroplasty to Anterior Cervical Discectomy and Fusion (ACDF) for the Treatment of Cervical Degenerative Disc Disease Terminated NCT00700739 Phase 4
4 Randomized, Multicentric, Prospective, Double-blind Study: Effectiveness of Adding Allogenic Stem Cells to a Platelet-poor Plasma Scaffold After Arthroscopic Debridement and Microfractures in Patients With Osteochondral Lesions of the Talus Recruiting NCT03905824 Phase 3
5 Assessment of Efficacy and Safety of Tocilizumab Compared to DefeROxamine, Associated With Standards Treatments in COVID-19 (+) Patients Hospitalized In Intensive Care in Tunisia. Multicentric, Comparative, Randomized Study Not yet recruiting NCT04361032 Phase 3 Tocilizumab Injection;Deferoxamine
6 Barbed Sutures Versus Conventional Sutures in Laparoscopic Excision of Endometrioma . A Randomized Controlled Study Unknown status NCT02308995 Phase 2
7 LOC-R01: Randomized Phase Ib/II Study of Escalating Doses of Lenalidomide and Ibrutinib in Association With Rituximab-Methotrexate Procarbazine Vincristin (R-MPV) as a Targeted Induction Treatment for Patients Aged 18 to 60 With a Newly Diagnosed Primary Central Nervous System Lymphoma (PCNSL). Recruiting NCT04446962 Phase 1, Phase 2 Lenalidomide;Ibrutinib
8 Endoscopic Full Thickness Resection Without Exposure to Peritoneum: Single Center Single Arm Study Unknown status NCT02764944 Phase 1
9 An Open, Randomised, Cross-over, Single Centre Pharmacokinetic (Phase I) Study of the Biliary Excretion Following Single Doses of AZD0837, Given in the Duodenum Via a Loc-I-Gut Catheter, Alone or in Combination With Ketoconazole (Once Daily for 4 Days), to Young Healthy Male Subjects Completed NCT00812344 Phase 1 AZD0837;Ketoconazole;ketoconazole
10 An Open, Single Centre Pharmacokinetic (Phase 1) Study of the Biliary Excretion of AZD0837 and Metabolites Following a Single Dose of [3H] AZD0837 Given in the Duodenum Via a Loc-I-Gut Catheter to Young Healthy Male Subjects Completed NCT00812643 Phase 1 AZD0837
11 Phase I Study of Weekly LOC-paclitaxel Injection Terminated NCT01039844 Phase 1 LOC-paclitaxel
12 Patient Satisfaction in Single Implant Mandibular Complete Overdentures Retained by CM LOC Versus Ball Attachment Unknown status NCT02923661
13 Maintenance and Cost Effectiveness of CM-LOC Resin Matrix Versus Ball Nylon Matrix Attachment Retaining Single Implant Mandibular Complete Overdentures Unknown status NCT02907515
14 Barbed Suture Versus Traditional Suture Material for Laparoscopic Myomectomy: A Randomized Controlled Trial Unknown status NCT01347385
15 A Prospective, Randomized Study to Evaluate Dermal Closure With an Absorbable Barbed Suture (V-Loc 180 Absorbable Wound Closure Device or V-Loc 90 Absorbable Wound Closure Device) as Compared to a Conventional Absorbable Suture Completed NCT00959374
16 Modelling Propofol Pharmacokinetics and Pharmacodynamics During an Intravenous Anaesthesia Guided by the Bispectral Index (BIS) Completed NCT02713698 Propofol
17 "All Comers" Post Market Clinical Follow-up (PMCF) With Multi-LOC for flOw liMiting Outcomes After Plain Old Balloon Angioplasty (POBA) and/or Drug Coated Balloon (DCB) Treatment in the Infra-inguinal Position With the objectiVE to Implant Multiple Stent Segments Completed NCT02531230
18 ¡Yo no Estoy Loc@! Improving Treatment Engagement for Latinos Using an E-E Video Completed NCT03889301
19 Oral Health Related Quality of Life and Peri-implant Condition in Single Implant Mandibular Overdenture Retained by CM LOC Versus Ball Attachment: A Randomized Controlled Trial Completed NCT02861313
20 "All Comers" Post Market Clinical Follow-up (PMCF) With Multi-LOC for flOw liMiting Outcomes After Plain Old Balloon Angioplasty (POBA) and/or Drug Coated Balloon (DCB) Treatment in the Infra-inguinal Position With the objectiVE to Implant Multiple Stent Segments Completed NCT02900274
21 Reliability of Bispectral Index for Depth of Anesthesia Monitoring in Neurosurgical Patients Completed NCT01483547
22 Stapler-less Burst Pressure in a Ex-vivo Human Gastric Tissue: a Randomized Controlled Trial Completed NCT04488042
23 Preventing Obesity in Military Communities-Adolescents Recruiting NCT02671292
24 Peri-Implant Soft Tissue Health and Marginal Bone Loss of Single Implant Mandibular Overdenture Retained by CM LOC Versus Ball Attachment: A Randomised Controlled Trial Recruiting NCT02881905
25 Vaginal Stump Infection After Total Laparoscopic or Robot-assisted Hysterectomy Recruiting NCT04725981
26 Responsive Neurostimulation For Loss Of Control Eating Recruiting NCT03868670
27 Evaluation of Patient Reported Outcome Measures and Clinical Performance of Implant Supported Overdentures With Two Different Attachment Systems: A Randomized Cross Over Clinical Study Recruiting NCT04544839
28 Development and Validation of a Descriptive and Clinically Relevant Postoperative Endoscopic Sinus Scoring System Not yet recruiting NCT04514120
29 Use of the V-Loc Suture for Mid-Face Lifting in Short-flap Rhytidectomy Terminated NCT02023307
30 Clinical Evaluation of Spring-Type Laparoscopic Clip Technology Terminated NCT00527644
31 A Case Study to Evaluate Adhesion Risk in Fertility Patients' Post Laparoscopic Myomectomy Utilizing Vloc Suture. Withdrawn NCT01971060

Search NIH Clinical Center for Laryngoonychocutaneous Syndrome

Genetic Tests for Laryngoonychocutaneous Syndrome

Genetic tests related to Laryngoonychocutaneous Syndrome:

# Genetic test Affiliating Genes
1 Laryngo-Onycho-Cutaneous Syndrome 29 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

40
Skin, Eye, Spinal Cord, Endothelial, Brain, Bone, Retina

Publications for Laryngoonychocutaneous Syndrome

Articles related to Laryngoonychocutaneous Syndrome:

(show top 50) (show all 409)
# Title Authors PMID Year
1
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. 6 57
12915477 2003
2
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. 57
8185366 1994
3
Multisystem disorder of Punjabi children exhibiting spontaneous dermal and submucosal granulation tissue formation: LOGIC syndrome. 57
1342856 1992
4
Laryngeal and ocular granulation tissue formation in two Punjabi children: LOGIC syndrome. 57
1800173 1991
5
Randomised Controlled Trial comparing Femtosecond Laser-Assisted and Conventional Phacoemulsification on Dense Cataracts. 61
33662301 2021
6
Burden of acromegaly in the United States: increased health services utilization, location of care, and costs of care. 61
33663311 2021
7
Lens opacity prevalence among the residents in high natural background radiation area in Yangjiang, China. 61
33006372 2021
8
Gradient Waveguide Thickness Guided-Mode Resonance Biosensor. 61
33430392 2021
9
Testing Lab-on-a-Chip Technology for Culturing Human Melanoma Cells under Simulated Microgravity. 61
33499085 2021
10
Objective quantification of lens nuclear opacities using swept-source anterior segment optical coherence tomography. 61
33441322 2021
11
Analysis of lens epithelium telomere length in age-related cataract. 61
32991882 2020
12
Low-Grade Versus Medium-Grade Nuclear Sclerotic Cataract Density Produces Identical Surgical and Visual Outcomes: A Prospective Single-Surgeon Study. 61
33437552 2020
13
In Situ Synthesis of SERS-Active Au@POM Nanostructures in a Microfluidic Device for Real-Time Detection of Water Pollutants. 61
32646210 2020
14
Objective quantification and spatial mapping of cataract with a Shack-Hartmann wavefront sensor. 61
32724118 2020
15
Correlation among Lens Opacities Classification System III grading, the 25-item National Eye Institute Visual Functioning Questionnaire, and Visual Function Index-14 for age-related cataract assessment. 61
32249376 2020
16
[Low cardiac output syndrome score to evaluate postoperative cardiac surgery patients in a pediatric intensive care unit]. 61
32633258 2020
17
In-vivo anterior segment OCT imaging provides unique insight into cerulean blue-dot opacities and cataracts in Down syndrome. 61
32572106 2020
18
A functional scaffold to promote the migration and neuronal differentiation of neural stem/progenitor cells for spinal cord injury repair. 61
32172034 2020
19
Twenty-two Year Multicentre Experience of Late Open Conversions after Endovascular Abdominal Aneurysm Repair. 61
32033872 2020
20
Evaluation of the relation between Lens Opacities Classification System III grading and nuclear size by direct measurement. 61
32874841 2020
21
Accurate Quantum Chemical Calculation of Ionization Potentials: Validation of the DFT-LOC Approach via a Large Data Set Obtained from Experiments and Benchmark Quantum Chemical Calculations. 61
32150400 2020
22
Influence of cataract light scatters on retinal vessel oxygen saturation. 61
31654499 2020
23
A self-calibrating and multiplexed electrochemical lab-on-a-chip for cell culture analysis and high-resolution imaging. 61
31971535 2020
24
Integrated Assessment of Bioconcentration, Toxicity, and Hazards of Chlorobenzenes in the Aquatic Environment. 61
31897536 2020
25
The Association between Socioeconomic Factors and Visual Function among Patients with Age-Related Cataracts. 61
33335783 2020
26
Using Optical Quality Analysis System for predicting surgical parameters in age-related cataract patients. 61
33044993 2020
27
Phacoemulsification vs manual small incision cataract surgery in eyes affected by pseudo exfoliation syndrome with grade II and III cataracts. 61
33542982 2020
28
MicroRNA-126 protects against vascular injury by promoting homing and maintaining stemness of late outgrowth endothelial progenitor cells. 61
31964421 2020
29
Clinical and Surgical Outcomes of Femtosecond Laser-Assisted Cataract Surgery (FLACS) on Hard Cataracts in the Egyptian Population. 61
32546946 2020
30
Association of cataract and sun exposure in geographically diverse populations of India: The CASE study. First Report of the ICMR-EYE SEE Study Group. 61
31971985 2020
31
Emerging Designs of Electronic Devices in Biomedicine. 61
31979030 2020
32
Vision-related quality of life after pars plana vitrectomy with or without combined cataract surgery for idiopathic macular hole patients. 61
31144239 2019
33
Lab-On-A-Chip for the Development of Pro-/Anti-Angiogenic Nanomedicines to Treat Brain Diseases. 61
31817343 2019
34
A comparative evaluation of cataract classifications based on shear-wave elastography and B-mode ultrasound findings. 61
31482292 2019
35
A comparative study of stereoacuity in patients with various grades of cataract and bilateral pseudophakia. 61
31638044 2019
36
Variability of diabetic macular edema in correlation with hypertension retinopathy in patients with diabetes mellitus and essential hypertension. 61
31915730 2019
37
Crystalline lens changes after selective laser trabeculoplasty in Afro-Caribbean patients with open-angle glaucoma; report 4 of the West Indies Glaucoma Laser Study (WIGLS). 61
31564319 2019
38
Myopic shift and lens turbidity following hyperbaric oxygen therapy - a prospective, longitudinal, observational cohort study. 61
30690920 2019
39
Lens nuclear opacity quantitation with long-range swept-source optical coherence tomography: correlation to LOCS III and a Scheimpflug imaging-based grading system. 61
30315132 2019
40
Pre-Clinical Evaluation of CBD-NT3 Modified Collagen Scaffolds in Completely Spinal Cord Transected Non-Human Primates. 61
30801232 2019
41
Dysfunctional Lens Index Serves as a Novel Surgery Decision-Maker for Age-Related Nuclear Cataracts. 61
30822168 2019
42
Microfluidic-controlled optical router for lab on a chip. 61
31114831 2019
43
Whole spine localizers of magnetic resonance imaging detect unexpected vertebral fractures. 61
30142998 2019
44
The Lens Opacities Classification System III Grading in Irradiated Uveal Melanomas to Characterize Proton Therapy-Induced Cataracts. 61
30721686 2019
45
Effects of mixed amendments on the phytoavailability of Cd in contaminated paddy soil under a rice-rape rotation system. 61
30859443 2019
46
The prevalence and risk factors for cataract in rural and urban India. 61
30900578 2019
47
[Lab on a Chip]. 61
30506152 2019
48
On the Impact of the Fabrication Method on the Performance of 3D Printed Mixers. 61
31052338 2019
49
Pore network model for permeability characterization of three-dimensionally-printed porous materials for passive microfluidics. 61
30999407 2019
50
Lab-on-a-brane for spheroid formation. 61
30776782 2019

Variations for Laryngoonychocutaneous Syndrome

ClinVar genetic disease variations for Laryngoonychocutaneous Syndrome:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMA3 NM_000227.5(LAMA3):c.151dup (p.Val51fs) Duplication Pathogenic 42049 rs80356678 GRCh37: 18:21453158-21453159
GRCh38: 18:23873194-23873195
2 LAMA3 NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter) SNV Pathogenic 449049 rs772038362 GRCh37: 18:21519265-21519265
GRCh38: 18:23939301-23939301
3 LAMA3 NM_000227.5(LAMA3):c.794T>C (p.Leu265Ser) SNV Uncertain significance 326303 rs139348197 GRCh37: 18:21478709-21478709
GRCh38: 18:23898745-23898745
4 LAMA3 NM_198129.4(LAMA3):c.6290C>T (p.Ala2097Val) SNV Uncertain significance 888642 GRCh37: 18:21483061-21483061
GRCh38: 18:23903097-23903097
5 LAMA3 NM_198129.4(LAMA3):c.9419C>T (p.Thr3140Ile) SNV Uncertain significance 892377 GRCh37: 18:21529796-21529796
GRCh38: 18:23949832-23949832
6 LAMA3 NM_198129.4(LAMA3):c.9475A>G (p.Ile3159Val) SNV Uncertain significance 892378 GRCh37: 18:21529852-21529852
GRCh38: 18:23949888-23949888
7 LAMA3 NM_198129.4(LAMA3):c.*375G>C SNV Uncertain significance 892422 GRCh37: 18:21534987-21534987
GRCh38: 18:23955023-23955023
8 LAMA3 NM_198129.4(LAMA3):c.4998+1402C>T SNV Uncertain significance 890252 GRCh37: 18:21453027-21453027
GRCh38: 18:23873063-23873063
9 LAMA3 NM_198129.4(LAMA3):c.4998+1454A>G SNV Uncertain significance 890253 GRCh37: 18:21453079-21453079
GRCh38: 18:23873115-23873115
10 LAMA3 NM_198129.4(LAMA3):c.5830G>A (p.Val1944Met) SNV Uncertain significance 890293 GRCh37: 18:21479023-21479023
GRCh38: 18:23899059-23899059
11 LAMA3 NM_198129.4(LAMA3):c.5865T>G (p.Asp1955Glu) SNV Uncertain significance 890294 GRCh37: 18:21479280-21479280
GRCh38: 18:23899316-23899316
12 LAMA3 NM_198129.4(LAMA3):c.6574G>A (p.Ala2192Thr) SNV Uncertain significance 890342 GRCh37: 18:21484617-21484617
GRCh38: 18:23904653-23904653
13 LAMA3 NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg) SNV Uncertain significance 890404 GRCh37: 18:21494726-21494726
GRCh38: 18:23914762-23914762
14 LAMA3 NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His) SNV Uncertain significance 890474 GRCh37: 18:21501447-21501447
GRCh38: 18:23921483-23921483
15 LAMA3 NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=) SNV Uncertain significance 890555 GRCh37: 18:21512160-21512160
GRCh38: 18:23932196-23932196
16 LAMA3 NM_198129.4(LAMA3):c.8622G>T (p.Arg2874Ser) SNV Uncertain significance 890556 GRCh37: 18:21512169-21512169
GRCh38: 18:23932205-23932205
17 LAMA3 NM_000227.5(LAMA3):c.1682G>C (p.Arg561Pro) SNV Uncertain significance 326309 rs148728856 GRCh37: 18:21484552-21484552
GRCh38: 18:23904588-23904588
18 LAMA3 NM_000227.5(LAMA3):c.3829C>T (p.Arg1277Cys) SNV Uncertain significance 326336 rs199991488 GRCh37: 18:21512203-21512203
GRCh38: 18:23932239-23932239
19 LAMA3 NM_198129.3(LAMA3):c.7545C>T (p.Pro2515=) SNV Uncertain significance 326319 rs145460785 GRCh37: 18:21494725-21494725
GRCh38: 18:23914761-23914761
20 LAMA3 NM_000227.5(LAMA3):c.2692G>A (p.Ala898Thr) SNV Uncertain significance 326318 rs187899159 GRCh37: 18:21494699-21494699
GRCh38: 18:23914735-23914735
21 LAMA3 NM_000227.5(LAMA3):c.4338G>A (p.Leu1446=) SNV Uncertain significance 726895 rs370470226 GRCh37: 18:21523890-21523890
GRCh38: 18:23943926-23943926
22 LAMA3 NM_000227.5(LAMA3):c.4382C>T (p.Thr1461Met) SNV Uncertain significance 730940 rs117056996 GRCh37: 18:21523934-21523934
GRCh38: 18:23943970-23943970
23 LAMA3 NM_000227.5(LAMA3):c.1097G>A (p.Arg366His) SNV Uncertain significance 788005 rs149809232 GRCh37: 18:21479339-21479339
GRCh38: 18:23899375-23899375
24 LAMA3 NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln) SNV Uncertain significance 890859 GRCh37: 18:21479357-21479357
GRCh38: 18:23899393-23899393
25 LAMA3 NM_198129.4(LAMA3):c.7016-7C>T SNV Uncertain significance 890907 GRCh37: 18:21489110-21489110
GRCh38: 18:23909146-23909146
26 LAMA3 NM_198129.4(LAMA3):c.7080G>A (p.Leu2360=) SNV Uncertain significance 890908 GRCh37: 18:21489181-21489181
GRCh38: 18:23909217-23909217
27 LAMA3 NM_000227.5(LAMA3):c.2896T>C (p.Tyr966His) SNV Uncertain significance 736965 rs377097479 GRCh37: 18:21495331-21495331
GRCh38: 18:23915367-23915367
28 LAMA3 NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys) SNV Uncertain significance 890967 GRCh37: 18:21495347-21495347
GRCh38: 18:23915383-23915383
29 LAMA3 NM_198129.4(LAMA3):c.8107A>G (p.Ile2703Val) SNV Uncertain significance 891031 GRCh37: 18:21501479-21501479
GRCh38: 18:23921515-23921515
30 LAMA3 NM_198129.4(LAMA3):c.8138C>T (p.Thr2713Ile) SNV Uncertain significance 891032 GRCh37: 18:21501510-21501510
GRCh38: 18:23921546-23921546
31 LAMA3 NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His) SNV Uncertain significance 891174 GRCh37: 18:21529777-21529777
GRCh38: 18:23949813-23949813
32 LAMA3 NM_000227.5(LAMA3):c.513C>T (p.Phe171=) SNV Uncertain significance 795777 rs138524783 GRCh37: 18:21470011-21470011
GRCh38: 18:23890047-23890047
33 LAMA3 NM_198129.4(LAMA3):c.6158A>T (p.Asn2053Ile) SNV Uncertain significance 892094 GRCh37: 18:21481244-21481244
GRCh38: 18:23901280-23901280
34 LAMA3 NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val) SNV Uncertain significance 892095 GRCh37: 18:21483057-21483057
GRCh38: 18:23903093-23903093
35 LAMA3 NM_198129.4(LAMA3):c.7181A>G (p.Asn2394Ser) SNV Uncertain significance 892140 GRCh37: 18:21492697-21492697
GRCh38: 18:23912733-23912733
36 LAMA3 NM_198129.4(LAMA3):c.7238A>G (p.Tyr2413Cys) SNV Uncertain significance 892141 GRCh37: 18:21492754-21492754
GRCh38: 18:23912790-23912790
37 LAMA3 NM_198129.4(LAMA3):c.7267C>G (p.Pro2423Ala) SNV Uncertain significance 892142 GRCh37: 18:21492783-21492783
GRCh38: 18:23912819-23912819
38 LAMA3 NM_000227.5(LAMA3):c.2913A>G (p.Thr971=) SNV Uncertain significance 734769 rs145848988 GRCh37: 18:21495348-21495348
GRCh38: 18:23915384-23915384
39 LAMA3 NM_198129.4(LAMA3):c.7779-8G>C SNV Uncertain significance 892200 GRCh37: 18:21496507-21496507
GRCh38: 18:23916543-23916543
40 LAMA3 NM_000227.5(LAMA3):c.4911C>T (p.Val1637=) SNV Uncertain significance 326348 rs886053679 GRCh37: 18:21532955-21532955
GRCh38: 18:23952991-23952991
41 LAMA3 NM_000227.5(LAMA3):c.2294G>A (p.Arg765Gln) SNV Uncertain significance 326313 rs563440658 GRCh37: 18:21489222-21489222
GRCh38: 18:23909258-23909258
42 LAMA3 NM_000227.5(LAMA3):c.3946G>A (p.Gly1316Arg) SNV Uncertain significance 326340 rs112986465 GRCh37: 18:21513810-21513810
GRCh38: 18:23933846-23933846
43 LAMA3 NM_000227.5(LAMA3):c.3881+4G>A SNV Uncertain significance 326339 rs200417639 GRCh37: 18:21512259-21512259
GRCh38: 18:23932295-23932295
44 LAMA3 NM_198129.3(LAMA3):c.7727A>G (p.Asn2576Ser) SNV Uncertain significance 326322 rs781529313 GRCh37: 18:21495335-21495335
GRCh38: 18:23915371-23915371
45 LAMA3 NM_000227.5(LAMA3):c.2509C>T (p.Arg837Trp) SNV Uncertain significance 326315 rs746635499 GRCh37: 18:21494380-21494380
GRCh38: 18:23914416-23914416
46 LAMA3 NM_000227.5(LAMA3):c.1186C>T (p.Arg396Trp) SNV Uncertain significance 326307 rs373250558 GRCh37: 18:21481099-21481099
GRCh38: 18:23901135-23901135
47 LAMA3 NM_198129.3(LAMA3):c.8282C>T (p.Ser2761Leu) SNV Uncertain significance 326331 rs144549206 GRCh37: 18:21508191-21508191
GRCh38: 18:23928227-23928227
48 LAMA3 NM_000227.5(LAMA3):c.*352A>G SNV Uncertain significance 326356 rs886053681 GRCh37: 18:21534964-21534964
GRCh38: 18:23955000-23955000
49 LAMA3 NM_000227.5(LAMA3):c.3830G>A (p.Arg1277His) SNV Uncertain significance 326337 rs759770267 GRCh37: 18:21512204-21512204
GRCh38: 18:23932240-23932240
50 LAMA3 NM_000227.5(LAMA3):c.*126A>G SNV Uncertain significance 326354 rs546219784 GRCh37: 18:21534738-21534738
GRCh38: 18:23954774-23954774

Expression for Laryngoonychocutaneous Syndrome

Search GEO for disease gene expression data for Laryngoonychocutaneous Syndrome.

Pathways for Laryngoonychocutaneous Syndrome

Pathways related to Laryngoonychocutaneous Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Laryngoonychocutaneous Syndrome

Sources for Laryngoonychocutaneous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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