LOCS
MCID: LRY022
MIFTS: 44

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 56 52 25 73 13 39 71
Laryngo-Onycho-Cutaneous Syndrome 52 25 58 29 6
Logic Syndrome 56 52 25 58
Locs 56 52 25 73
Shabbir Syndrome 25 58
Loc Syndrome 25 58
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 58
Laryngo Onycho Cutaneous Syndrome 36
Laryngo-Onychocutaneous Syndrome 71
Jeb-Loc 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 245660
KEGG 36 H00813
ICD10 via Orphanet 33 Q81.8
UMLS via Orphanet 72 C1328355
Orphanet 58 ORPHA2407
MedGen 41 C1328355
UMLS 71 C0457017 C1328355

Summaries for Laryngoonychocutaneous Syndrome

Genetics Home Reference : 25 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 dystrophica and epidermolysis bullosa simplex, localized. 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 Nepafenac and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and endothelial, 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 : 73 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 : 74 Shabbir syndrome (also known as laryngo-onycho-cutaneous syndrome) is a cutaneous condition inherited in... 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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica 11.4
2 epidermolysis bullosa simplex, localized 11.4
3 epidermolysis bullosa, junctional, non-herlitz type 11.2
4 localized junctional epidermolysis bullosa, non-herlitz type 11.2
5 epidermolysis bullosa 10.7
6 junctional epidermolysis bullosa 10.7
7 cataract 10.6
8 yemenite deaf-blind hypopigmentation syndrome 10.5
9 central nervous system lymphoma 10.5
10 primary central nervous system lymphoma 10.5
11 choanal atresia, posterior 10.4
12 familial hypocalciuric hypercalcemia 10.4
13 aggressive periodontitis 10.4
14 conjunctival disease 10.4
15 periodontitis 10.4
16 diffuse large b-cell lymphoma 10.3
17 lymphoma 10.3
18 cerebral lymphoma 10.3
19 aphasia 10.2
20 b-cell lymphoma 10.2
21 volvulus of midgut 10.1
22 lymphoma, hodgkin, classic 10.1
23 lymphoma, non-hodgkin, familial 10.1
24 limb ischemia 10.1
25 inguinal hernia 10.1
26 amnestic disorder 10.1
27 neutropenia 10.1
28 intraocular lymphoma 10.1
29 ileus 10.1
30 bladder cancer 10.0
31 esophageal cancer 10.0
32 chordoma 10.0
33 retinoschisis 1, x-linked, juvenile 10.0
34 macular degeneration, age-related, 1 10.0
35 pulmonary disease, chronic obstructive 10.0
36 gastric cancer 10.0
37 aspergillosis 10.0
38 silicosis 10.0
39 depersonalization disorder 10.0
40 dumping syndrome 10.0
41 urethral stricture 10.0
42 post-traumatic stress disorder 10.0
43 intermittent claudication 10.0
44 gastric adenocarcinoma 10.0
45 systemic scleroderma 10.0
46 sleep disorder 10.0
47 eye disease 10.0
48 acute stress disorder 10.0
49 lymphopenia 10.0
50 retina lymphoma 10.0

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:

56
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

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

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

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Bevacizumab Approved, Investigational Phase 4 216974-75-3
6
Choline Approved, Nutraceutical Phase 4 62-49-7 305
7 Analgesics, Non-Narcotic Phase 4
8 Analgesics Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antirheumatic Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Cytidine Diphosphate Choline Phase 4
13 Hormone Antagonists Phase 4
14 Hormones Phase 4
15 glucocorticoids Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Antiemetics Phase 4
18
protease inhibitors Phase 4
19 HIV Protease Inhibitors Phase 4
20 Gastrointestinal Agents Phase 4
21 Angiogenesis Inhibitors Phase 4
22 Anti-Inflammatory Agents Phase 4
23 BB 1101 Phase 4
24
Ciclesonide Approved, Investigational Phase 3 141845-82-1, 126544-47-6 444033
25
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
26
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
27
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
28
Polyestradiol phosphate Approved Phase 3 28014-46-2
29
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
30 Anti-Allergic Agents Phase 3
31
Beclomethasone Phase 3 4419-39-0 20469
32 Anti-Bacterial Agents Phase 3
33 Anti-Infective Agents Phase 3
34 Estradiol 17 beta-cypionate Phase 3
35 Contraceptive Agents Phase 3
36 Estradiol 3-benzoate Phase 3
37 Contraceptives, Oral, Combined Phase 3
38 Contraceptives, Oral Phase 3
39 Norgestimate, ethinyl estradiol drug combination Phase 3
40
tannic acid Approved 1401-55-4
41
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
42
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
43
Lidocaine Approved, Vet_approved 137-58-6 3676
44
Phenylephrine Approved 59-42-7 6041
45
Iodine Approved, Investigational 7553-56-2 807
46
Oxymetazoline Approved, Investigational 1491-59-4 4636
47
Povidone Approved 9003-39-8
48
Tropicamide Approved, Investigational 1508-75-4 5593
49
Dipivefrin Approved 52365-63-6 3105
50
Povidone-iodine Approved 25655-41-8

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 A Multi-centre, Multi-surgeon, Randomized, Controlled, Prospective, Post-Market-Clinical-Follow-Up Study to Investigate the Impact of Cataract Grade on the Efficacy and Safety of Femtosecond-laser Assisted Lens Fragmentation Procedure Completed NCT01971177 Phase 4
2 Effect of Nepafenac on Post-operative Cystoid Macular Edema Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
3 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) : Pattern Electroretinography Study Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
4 Anti-VEGF Therapy Versus Dexamethasone Implant for Treatment Naive Diabetic Macular Edema: A Randomized Controlled Trial Not yet recruiting NCT03999125 Phase 4 Aflibercept,;Ranibizumab Injection;Ozurdex Drug Implant Product
5 A Multi-Center, Multinational, Randomized, Double-Blind, Parallel Group Study of the Effects of Ciclesonide Hfa-Mdi 640 μg/Day and Beclomethasone Hfa-Mdi 640 μg/Day on Lens Opacification in Adult Subjects With Moderate to Severe Persistent Asthma Completed NCT00254956 Phase 3 ciclesonide (XRP1526)
6 Use of Intracameral Moxifloxacin for the Prevention of Acute Endophthalmitis Following Cataract Surgery: a Controlled and Randomized Clinical Trial Terminated NCT02770729 Phase 3 Moxifloxacin;No injection of moxifloxacin
7 Dysfunctional Lens Index Serves as a Novel Surgery Decision Maker for Age-related Cataracts Unknown status NCT03340389
8 The Effect of Ranibizumab on Eye Lens Opacity in Cases With Age-Related Macular Degeneration Completed NCT01330797
9 Liquefaction Versus Torsional ip. A Comparative Study on Endothelial Cells, Corneal Edema and Corneal Sensitivity Completed NCT01480557
10 Genetic Studies in Breast Cancer Completed NCT00582322
11 Study of the Occupational Risk of Radiation-induced Cataracts Among Cardiologists Completed NCT01061463
12 The Post-Vitrectomy Lenstatin Study: A Prospective Randomized Double Blind Human Clinical Trial Testing the Efficacy of Lenstatin in Inhibiting Cataract Formation and Progression After Pars Plana Vitrectomy Completed NCT02131194 Placebo
13 Impact of C3F8 or SF6 Use and Length of Face-down Positioning (7 vs 14 Days Respectively) in Macular Hole Surgery Completed NCT02073266
14 Viscoat Versus Visthesia. A Comparative Study of Post-cataract Endothelial Cell Loss Completed NCT02304861
15 Prospective Evaluation of the Efficacy of Pascal Laser Iridotomy and Pascal Laser Peripheral Iridoplasty: A Pilot Study Completed NCT01020071
16 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
17 The Northern Ireland Sensory Ageing Study Completed NCT02788695
18 Evaluation of Phacodepth Required to Achieve Full Thickness Nuclear Crack in Various Grades of Cataract and to Determine the Correlation Between the Two. Completed NCT01256918
19 Randomized, Controlled Trial in Patients With Senile Cataract to Evaluate the Efficacy of Ultrasound-free Femtosecond Laser (FLACS) Cataract Surgery (USFREE), Compared to Traditional Phacoemulsification Surgery Using Ultrasound. Completed NCT03050008
20 Validation of Mesopic and Photopic Contrast Vision Tests With Respect to Nighttime Driving Ability (ContrastVal) - Influence of Dynamic Glare on (Aged) Motorist (With/Without Media Opacities) Completed NCT03169855
21 ETDRS Panretinal Photocoagulation (PRP) Combined With Intravitreal Ranibizumab (IVR) Versus Retinal Photocoagulation Targeted to Ischemic Retina Combined With IVR for the Treatment of Proliferative Diabetic Retinopathy Completed NCT03904056
22 Aflibercept anD navigateD vErsus coNvensional Laser in Diabetic macUlar edeMa Completed NCT02554747

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
Eye, Skin, Endothelial, Testes, Spinal Cord, Retina, Breast

Publications for Laryngoonychocutaneous Syndrome

Articles related to Laryngoonychocutaneous Syndrome:

(show top 50) (show all 394)
# 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 56
12915477 2003
2
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. 56
8185366 1994
3
Multisystem disorder of Punjabi children exhibiting spontaneous dermal and submucosal granulation tissue formation: LOGIC syndrome. 56
1342856 1992
4
Laryngeal and ocular granulation tissue formation in two Punjabi children: LOGIC syndrome. 56
1800173 1991
5
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
6
In-vivo anterior segment OCT imaging provides unique insight into cerulean blue-dot opacities and cataracts in Down syndrome. 61
32572106 2020
7
A functional scaffold to promote the migration and neuronal differentiation of neural stem/progenitor cells for spinal cord injury repair. 61
32172034 2020
8
Twenty-two Year Multicentre Experience of Late Open Conversions after Endovascular Abdominal Aneurysm Repair. 61
32033872 2020
9
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
10
A self-calibrating and multiplexed electrochemical lab-on-a-chip for cell culture analysis and high-resolution imaging. 61
31971535 2020
11
Integrated Assessment of Bioconcentration, Toxicity, and Hazards of Chlorobenzenes in the Aquatic Environment. 61
31897536 2020
12
Influence of cataract light scatters on retinal vessel oxygen saturation. 61
31654499 2020
13
Clinical and Surgical Outcomes of Femtosecond Laser-Assisted Cataract Surgery (FLACS) on Hard Cataracts in the Egyptian Population. 61
32546946 2020
14
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
15
MicroRNA-126 protects against vascular injury by promoting homing and maintaining stemness of late outgrowth endothelial progenitor cells. 61
31964421 2020
16
Emerging Designs of Electronic Devices in Biomedicine. 61
31979030 2020
17
A comparative evaluation of cataract classifications based on shear-wave elastography and B-mode ultrasound findings. 61
31482292 2019
18
Vision-related quality of life after pars plana vitrectomy with or without combined cataract surgery for idiopathic macular hole patients. 61
31144239 2019
19
Lab-On-A-Chip for the Development of Pro-/Anti-Angiogenic Nanomedicines to Treat Brain Diseases. 61
31817343 2019
20
A comparative study of stereoacuity in patients with various grades of cataract and bilateral pseudophakia. 61
31638044 2019
21
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
22
Variability of diabetic macular edema in correlation with hypertension retinopathy in patients with diabetes mellitus and essential hypertension. 61
31915730 2019
23
Myopic shift and lens turbidity following hyperbaric oxygen therapy - a prospective, longitudinal, observational cohort study. 61
30690920 2019
24
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
25
Pre-Clinical Evaluation of CBD-NT3 Modified Collagen Scaffolds in Completely Spinal Cord Transected Non-Human Primates. 61
30801232 2019
26
Dysfunctional Lens Index Serves as a Novel Surgery Decision-Maker for Age-Related Nuclear Cataracts. 61
30822168 2019
27
Microfluidic-controlled optical router for lab on a chip. 61
31114831 2019
28
Whole spine localizers of magnetic resonance imaging detect unexpected vertebral fractures. 61
30142998 2019
29
The Lens Opacities Classification System III Grading in Irradiated Uveal Melanomas to Characterize Proton Therapy-Induced Cataracts. 61
30721686 2019
30
Effects of mixed amendments on the phytoavailability of Cd in contaminated paddy soil under a rice-rape rotation system. 61
30859443 2019
31
[Lab on a Chip]. 61
30506152 2019
32
On the Impact of the Fabrication Method on the Performance of 3D Printed Mixers. 61
31052338 2019
33
The prevalence and risk factors for cataract in rural and urban India. 61
30900578 2019
34
Pore network model for permeability characterization of three-dimensionally-printed porous materials for passive microfluidics. 61
30999407 2019
35
Lab-on-a-brane for spheroid formation. 61
30776782 2019
36
Water-quality trends in U.S. rivers, 2002 to 2012: Relations to levels of concern. 61
30292123 2019
37
Shabbir Syndrome: Case Report of a Rare Disease. 61
31523077 2019
38
Cataract grading systems: a review of past and present. 61
30489359 2019
39
Effects of anterior chamber depth and axial length on corneal endothelial cell density after phacoemulsification. 61
30881423 2019
40
Production of omega 3-rich oils from underutilized chia seeds. Comparison between supercritical fluid and pressurized liquid extraction methods. 61
30599958 2019
41
Ultrasound power and irrigation volume in different lens opacity grades: comparison of femtosecond laser-assisted cataract surgery and conventional phacoemulsification. 61
31664421 2019
42
Medicinal Sulphur Polypore Mushroom Laetiporus sulphureus (Agaricomycetes) Plus Tiny Amounts of Essential Oils Decrease the Activity of Crohn Disease. 61
31002610 2019
43
Central corneal thickness changes following manual small incision cataract surgery versus phacoemulsification for white cataract. 61
31198899 2019
44
Epidemiology of status epilepticus in adults: A population-based study on incidence, causes, and outcomes. 61
30478910 2019
45
Cataract quantification using swept-source optical coherence tomography. 61
30392762 2018
46
Comparison of cumulative dissipated energy delivered by active-fluidic pressure control phacoemulsification system versus gravity-fluidics. 61
28831699 2018
47
Cellulose and nanocellulose-based flexible-hybrid printed electronics and conductive composites - A review. 61
30092997 2018
48
Comparative studies between longitudinal and torsional modes in phacoemulsification, using active fluidics technology along with the intrepid balanced tip. 61
30249825 2018
49
Serum selenium levels are associated with age-related cataract. 61
30260193 2018
50
The Mediating Role of Perceived Social Support in the Relationships Between General Causality Orientations and Locus of Control With Psychopathological Symptoms. 61
30263069 2018

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 GRCh37 Pos GRCh38 Pos
1 LAMA3 NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter)SNV Pathogenic 449049 rs772038362 18:21519265-21519265 18:23939301-23939301
2 LAMA3 NM_198129.3(LAMA3):c.4998+1534dupduplication Pathogenic 42049 rs80356678 18:21453158-21453159 18:23873194-23873195
3 LAMA3 NM_000227.5(LAMA3):c.1097G>A (p.Arg366His)SNV Conflicting interpretations of pathogenicity 788005 18:21479339-21479339 18:23899375-23899375
4 LAMA3 NM_000227.5(LAMA3):c.2913A>G (p.Thr971=)SNV Conflicting interpretations of pathogenicity 734769 18:21495348-21495348 18:23915384-23915384
5 LAMA3 NM_000227.5(LAMA3):c.4338G>A (p.Leu1446=)SNV Conflicting interpretations of pathogenicity 726895 18:21523890-21523890 18:23943926-23943926
6 LAMA3 NM_000227.5(LAMA3):c.4382C>T (p.Thr1461Met)SNV Conflicting interpretations of pathogenicity 730940 18:21523934-21523934 18:23943970-23943970
7 LAMA3 NM_000227.5(LAMA3):c.2896T>C (p.Tyr966His)SNV Conflicting interpretations of pathogenicity 736965 18:21495331-21495331 18:23915367-23915367
8 LAMA3 NM_000227.5(LAMA3):c.513C>T (p.Phe171=)SNV Conflicting interpretations of pathogenicity 795777 18:21470011-21470011 18:23890047-23890047
9 LAMA3 NM_198129.3(LAMA3):c.5522G>A (p.Arg1841His)SNV Conflicting interpretations of pathogenicity 326300 rs144475991 18:21474931-21474931 18:23894967-23894967
10 LAMA3 NM_000227.5(LAMA3):c.3201C>T (p.Asn1067=)SNV Conflicting interpretations of pathogenicity 708962 18:21501003-21501003 18:23921039-23921039
11 LAMA3 NM_198129.3(LAMA3):c.8829G>A (p.Arg2943=)SNV Conflicting interpretations of pathogenicity 290582 rs141472847 18:21513866-21513866 18:23933902-23933902
12 LAMA3 NM_198129.3(LAMA3):c.5169T>C (p.Tyr1723=)SNV Conflicting interpretations of pathogenicity 326295 rs140561492 18:21461956-21461956 18:23881992-23881992
13 LAMA3 NM_198129.3(LAMA3):c.8282C>T (p.Ser2761Leu)SNV Conflicting interpretations of pathogenicity 326331 rs144549206 18:21508191-21508191 18:23928227-23928227
14 LAMA3 NM_198129.3(LAMA3):c.9241C>T (p.Arg3081Cys)SNV Conflicting interpretations of pathogenicity 326344 rs35762515 18:21526138-21526138 18:23946174-23946174
15 LAMA3 NM_198129.3(LAMA3):c.4998+1413C>TSNV Conflicting interpretations of pathogenicity 326291 rs145044428 18:21453038-21453038 18:23873074-23873074
16 LAMA3 NM_198129.3(LAMA3):c.5493C>T (p.Asn1831=)SNV Conflicting interpretations of pathogenicity 326299 rs199982757 18:21474902-21474902 18:23894938-23894938
17 LAMA3 NM_198129.3(LAMA3):c.7482-5A>CSNV Conflicting interpretations of pathogenicity 326317 rs780657629 18:21494657-21494657 18:23914693-23914693
18 LAMA3 NM_198129.3(LAMA3):c.8193G>C (p.Thr2731=)SNV Conflicting interpretations of pathogenicity 326327 rs762861196 18:21508102-21508102 18:23928138-23928138
19 LAMA3 NM_198129.3(LAMA3):c.8283G>A (p.Ser2761=)SNV Conflicting interpretations of pathogenicity 326332 rs146634036 18:21508192-21508192 18:23928228-23928228
20 LAMA3 NM_198129.3(LAMA3):c.7545C>T (p.Pro2515=)SNV Conflicting interpretations of pathogenicity 326319 rs145460785 18:21494725-21494725 18:23914761-23914761
21 LAMA3 NM_198129.3(LAMA3):c.7727A>G (p.Asn2576Ser)SNV Conflicting interpretations of pathogenicity 326322 rs781529313 18:21495335-21495335 18:23915371-23915371
22 LAMA3 NM_198129.3(LAMA3):c.8241C>T (p.Val2747=)SNV Conflicting interpretations of pathogenicity 326329 rs371174542 18:21508150-21508150 18:23928186-23928186
23 LAMA3 NM_000227.5(LAMA3):c.3829C>T (p.Arg1277Cys)SNV Uncertain significance 326336 rs199991488 18:21512203-21512203 18:23932239-23932239
24 LAMA3 NM_000227.5(LAMA3):c.4200-14G>ASNV Uncertain significance 326342 rs372927257 18:21523738-21523738 18:23943774-23943774
25 LAMA3 NM_000227.5(LAMA3):c.*352A>GSNV Uncertain significance 326356 rs886053681 18:21534964-21534964 18:23955000-23955000
26 LAMA3 NM_000227.5(LAMA3):c.4911C>T (p.Val1637=)SNV Uncertain significance 326348 rs886053679 18:21532955-21532955 18:23952991-23952991
27 LAMA3 NM_000227.5(LAMA3):c.5021G>A (p.Gly1674Asp)SNV Uncertain significance 326349 rs763342168 18:21533065-21533065 18:23953101-23953101
28 LAMA3 NM_000227.5(LAMA3):c.304G>A (p.Ala102Thr)SNV Uncertain significance 326294 rs369226812 18:21461918-21461918 18:23881954-23881954
29 LAMA3 NM_000227.5(LAMA3):c.477-4G>ASNV Uncertain significance 326297 rs370409067 18:21469971-21469971 18:23890007-23890007
30 LAMA3 NM_000227.5(LAMA3):c.583+10A>GSNV Uncertain significance 326298 rs746263741 18:21470091-21470091 18:23890127-23890127
31 LAMA3 NM_000227.5(LAMA3):c.1021C>G (p.Gln341Glu)SNV Uncertain significance 326305 rs886053671 18:21479263-21479263 18:23899299-23899299
32 LAMA3 NM_000227.5(LAMA3):c.1375-12T>ASNV Uncertain significance 326308 rs764177904 18:21482961-21482961 18:23902997-23902997
33 LAMA3 NM_000227.5(LAMA3):c.1789-13G>TSNV Uncertain significance 326311 rs886053672 18:21485473-21485473 18:23905509-23905509
34 LAMA3 NM_000227.5(LAMA3):c.2294G>A (p.Arg765Gln)SNV Uncertain significance 326313 rs563440658 18:21489222-21489222 18:23909258-23909258
35 LAMA3 NM_000227.5(LAMA3):c.1863C>T (p.Ala621=)SNV Uncertain significance 326312 rs886053673 18:21485560-21485560 18:23905596-23905596
36 LAMA3 NM_000227.5(LAMA3):c.2509C>T (p.Arg837Trp)SNV Uncertain significance 326315 rs746635499 18:21494380-21494380 18:23914416-23914416
37 LAMA3 NM_000227.5(LAMA3):c.3946G>A (p.Gly1316Arg)SNV Uncertain significance 326340 rs112986465 18:21513810-21513810 18:23933846-23933846
38 LAMA3 NM_000227.5(LAMA3):c.3268G>A (p.Val1090Ile)SNV Uncertain significance 326325 rs886053675 18:21501467-21501467 18:23921503-23921503
39 LAMA3 NM_000227.5(LAMA3):c.3451T>G (p.Cys1151Gly)SNV Uncertain significance 326330 rs886053676 18:21508187-21508187 18:23928223-23928223
40 LAMA3 NM_000227.5(LAMA3):c.5110G>C (p.Val1704Leu)SNV Uncertain significance 326350 rs377024118 18:21534547-21534547 18:23954583-23954583
41 LAMA3 NM_000227.5(LAMA3):c.4685-11T>CSNV Uncertain significance 326345 rs776372744 18:21529982-21529982 18:23950018-23950018
42 LAMA3 NM_000227.5(LAMA3):c.4762C>T (p.His1588Tyr)SNV Uncertain significance 326346 rs776515886 18:21530070-21530070 18:23950106-23950106
43 LAMA3 NM_000227.5(LAMA3):c.3377G>A (p.Arg1126Gln)SNV Uncertain significance 326328 rs201106669 18:21508113-21508113 18:23928149-23928149
44 LAMA3 NM_000227.5(LAMA3):c.3500G>A (p.Gly1167Glu)SNV Uncertain significance 326333 rs886053677 18:21508620-21508620 18:23928656-23928656
45 LAMA3 NM_000227.5(LAMA3):c.3830G>A (p.Arg1277His)SNV Uncertain significance 326337 rs759770267 18:21512204-21512204 18:23932240-23932240
46 LAMA3 NM_000227.5(LAMA3):c.3881+4G>ASNV Uncertain significance 326339 rs200417639 18:21512259-21512259 18:23932295-23932295
47 LAMA3 NM_000227.5(LAMA3):c.3837C>T (p.Gly1279=)SNV Uncertain significance 326338 rs138908985 18:21512211-21512211 18:23932247-23932247
48 LAMA3 NM_000227.5(LAMA3):c.4201T>G (p.Ser1401Ala)SNV Uncertain significance 326343 rs886053678 18:21523753-21523753 18:23943789-23943789
49 LAMA3 NM_000227.5(LAMA3):c.*48T>ASNV Uncertain significance 326351 rs886053680 18:21534660-21534660 18:23954696-23954696
50 LAMA3 NM_000227.5(LAMA3):c.*126A>GSNV Uncertain significance 326354 rs546219784 18:21534738-21534738 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
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9 Cosmic
10 dbSNP
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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