LOCS
MCID: LRY022
MIFTS: 45

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 53 25 74 29 13 6 40 72
Logic Syndrome 57 53 25 59
Locs 57 53 25 74
Laryngo-Onycho-Cutaneous Syndrome 53 25 59
Shabbir Syndrome 25 59
Loc Syndrome 25 59
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 59
Laryngo Onycho Cutaneous Syndrome 37
Laryngo-Onychocutaneous Syndrome 72
Jeb-Loc 25

Characteristics:

Orphanet epidemiological data:

59
loc syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
laryngoonychocutaneous syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 245660
KEGG 37 H00813
ICD10 via Orphanet 34 Q81.8
UMLS via Orphanet 73 C1328355
Orphanet 59 ORPHA2407
MedGen 42 C1328355
UMLS 72 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 logic syndrome, is related to epidermolysis bullosa simplex, localized and epidermolysis bullosa, junctional, non-herlitz type. 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 abnormality of the eye and hoarse cry

KEGG : 37
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 : 74 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 : 75 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 56)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, localized 11.4
2 epidermolysis bullosa, junctional, non-herlitz type 11.2
3 localized junctional epidermolysis bullosa, non-herlitz type 11.2
4 epidermolysis bullosa 10.7
5 junctional epidermolysis bullosa 10.7
6 cataract 10.6
7 yemenite deaf-blind hypopigmentation syndrome 10.5
8 epidermolysis bullosa dystrophica 10.5
9 central nervous system lymphoma 10.4
10 primary central nervous system lymphoma 10.4
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 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 10.4
17 diffuse large b-cell lymphoma 10.3
18 lymphoma 10.2
19 aphasia 10.2
20 inguinal hernia 10.1
21 amnestic disorder 10.1
22 neutropenia 10.1
23 cerebral lymphoma 10.1
24 b-cell lymphoma 10.1
25 ileus 10.1
26 intestinal volvulus 10.1
27 limb ischemia 10.1
28 lymphoma, non-hodgkin, familial 10.1
29 lymphoma, hodgkin, classic 10.1
30 silicosis 10.0
31 depersonalization disorder 10.0
32 dumping syndrome 10.0
33 urethral stricture 10.0
34 intermittent claudication 10.0
35 gastric adenocarcinoma 10.0
36 systemic scleroderma 10.0
37 sleep disorder 10.0
38 eye disease 10.0
39 lymphopenia 10.0
40 intraocular lymphoma 10.0
41 intestinal obstruction 10.0
42 eating disorder 10.0
43 senile cataract 10.0
44 48,xyyy 10.0
45 aspergillosis 10.0
46 gastric cancer 10.0
47 pulmonary disease, chronic obstructive 10.0
48 macular degeneration, age-related, 1 10.0
49 retinoschisis 1, x-linked, juvenile 10.0
50 chordoma 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 hoarse cry 32 HP:0001615
3 skin ulcer 32 HP:0200042
4 weak cry 32 HP:0001612
5 amelogenesis imperfecta 32 HP:0000705
6 recurrent loss of toenails and fingernails 32 HP:0008390

Symptoms via clinical synopsis from OMIM:

57
Voice:
hoarse cry
weak 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 93)
# 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 Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Bevacizumab Approved, Investigational Phase 4 216974-75-3
6
Choline Approved, Nutraceutical Phase 4 62-49-7 305
7 Analgesics Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Antirheumatic Agents Phase 4
12 Nootropic Agents Phase 4
13 Cytidine Diphosphate Choline Phase 4
14 Angiogenesis Inhibitors Phase 4
15 Angiogenesis Modulating Agents Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Autonomic Agents Phase 4
18 Hormone Antagonists Phase 4
19 glucocorticoids Phase 4
20 Hormones Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
23 Gastrointestinal Agents Phase 4
24 Antiemetics Phase 4
25 HIV Protease Inhibitors Phase 4
26
protease inhibitors Phase 4
27 Antineoplastic Agents, Hormonal Phase 4
28 Antineoplastic Agents, Immunological Phase 4
29 BB 1101 Phase 4
30
Ciclesonide Approved, Investigational Phase 3 126544-47-6, 141845-82-1 444033
31
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
32
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
33
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
34
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
35
Polyestradiol phosphate Approved Phase 3 28014-46-2
36 Respiratory System Agents Phase 3
37 Anti-Allergic Agents Phase 3
38 Anti-Asthmatic Agents Phase 3
39
Beclomethasone Phase 3 4419-39-0 20469
40 Anti-Bacterial Agents Phase 3
41 Anti-Infective Agents Phase 3
42 Contraceptives, Oral Phase 3
43 Contraceptives, Oral, Combined Phase 3
44 Norgestimate, ethinyl estradiol drug combination Phase 3
45 Contraceptive Agents Phase 3
46 Topoisomerase Inhibitors Phase 3
47 Estradiol 3-benzoate Phase 3
48 Estradiol 17 beta-cypionate Phase 3
49
Lidocaine Approved, Vet_approved 137-58-6 3676
50
Tropicamide Approved, Investigational 1508-75-4 5593

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 The Effect of Ranibizumab on Eye Lens Opacity in Cases With Age-Related Macular Degeneration Completed NCT01330797
8 Liquefaction Versus Torsional ip. A Comparative Study on Endothelial Cells, Corneal Edema and Corneal Sensitivity Completed NCT01480557
9 Genetic Studies in Breast Cancer Completed NCT00582322
10 Study of the Occupational Risk of Radiation-induced Cataracts Among Cardiologists Completed NCT01061463
11 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
12 Viscoat Versus Visthesia. A Comparative Study of Post-cataract Endothelial Cell Loss Completed NCT02304861
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 Prospective Evaluation of the Efficacy of Pascal Laser Iridotomy and Pascal Laser Peripheral Iridoplasty: A Pilot Study Completed NCT01020071
15 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
16 The Northern Ireland Sensory Ageing Study Completed NCT02788695
17 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
18 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
19 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
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 Aflibercept anD navigateD vErsus coNvensional Laser in Diabetic macUlar edeMa Completed NCT02554747
22 Dysfunctional Lens Index Serves as a Novel Surgery Decision Maker for Age-related Cataracts Recruiting NCT03340389

Search NIH Clinical Center for Laryngoonychocutaneous Syndrome

Genetic Tests for Laryngoonychocutaneous Syndrome

Genetic tests related to Laryngoonychocutaneous Syndrome:

# Genetic test Affiliating Genes
1 Laryngoonychocutaneous Syndrome 29 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

41
Eye, Skin, Endothelial, Testes, Spinal Cord, Retina, Breast

Publications for Laryngoonychocutaneous Syndrome

Articles related to Laryngoonychocutaneous Syndrome:

(show top 50) (show all 374)
# 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. 8 71
12915477 2003
2
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. 8
8185366 1994
3
Multisystem disorder of Punjabi children exhibiting spontaneous dermal and submucosal granulation tissue formation: LOGIC syndrome. 8
1342856 1992
4
Laryngeal and ocular granulation tissue formation in two Punjabi children: LOGIC syndrome. 8
1800173 1991
5
Myopic shift and lens turbidity following hyperbaric oxygen therapy - a prospective, longitudinal, observational cohort study. 38
30690920 2019
6
Lens nuclear opacity quantitation with long-range swept-source optical coherence tomography: correlation to LOCS III and a Scheimpflug imaging-based grading system. 38
30315132 2019
7
Pre-Clinical Evaluation of CBD-NT3 Modified Collagen Scaffolds in Completely Spinal Cord Transected Non-Human Primates. 38
30801232 2019
8
Dysfunctional Lens Index Serves as a Novel Surgery Decision-Maker for Age-Related Nuclear Cataracts. 38
30822168 2019
9
Microfluidic-controlled optical router for lab on a chip. 38
31114831 2019
10
Whole spine localizers of magnetic resonance imaging detect unexpected vertebral fractures. 38
30142998 2019
11
The Lens Opacities Classification System III Grading in Irradiated Uveal Melanomas to Characterize Proton Therapy-Induced Cataracts. 38
30721686 2019
12
Vision-related quality of life after pars plana vitrectomy with or without combined cataract surgery for idiopathic macular hole patients. 38
31144239 2019
13
Effects of mixed amendments on the phytoavailability of Cd in contaminated paddy soil under a rice-rape rotation system. 38
30859443 2019
14
[Lab on a Chip]. 38
30506152 2019
15
On the Impact of the Fabrication Method on the Performance of 3D Printed Mixers. 38
31052338 2019
16
The prevalence and risk factors for cataract in rural and urban India. 38
30900578 2019
17
Lab-on-a-brane for spheroid formation. 38
30776782 2019
18
Pore network model for permeability characterization of three-dimensionally-printed porous materials for passive microfluidics. 38
30999407 2019
19
Water-quality trends in U.S. rivers, 2002 to 2012: Relations to levels of concern. 38
30292123 2019
20
Production of omega 3-rich oils from underutilized chia seeds. Comparison between supercritical fluid and pressurized liquid extraction methods. 38
30599958 2019
21
Medicinal Sulphur Polypore Mushroom Laetiporus sulphureus (Agaricomycetes) Plus Tiny Amounts of Essential Oils Decrease the Activity of Crohn Disease. 38
31002610 2019
22
Effects of anterior chamber depth and axial length on corneal endothelial cell density after phacoemulsification. 38
30881423 2019
23
Cataract grading systems: a review of past and present. 38
30489359 2019
24
Central corneal thickness changes following manual small incision cataract surgery versus phacoemulsification for white cataract. 38
31198899 2019
25
Epidemiology of status epilepticus in adults: A population-based study on incidence, causes, and outcomes. 38
30478910 2019
26
Cataract quantification using swept-source optical coherence tomography. 38
30392762 2018
27
Cellulose and nanocellulose-based flexible-hybrid printed electronics and conductive composites - A review. 38
30092997 2018
28
Comparison of cumulative dissipated energy delivered by active-fluidic pressure control phacoemulsification system versus gravity-fluidics. 38
28831699 2018
29
Comparative studies between longitudinal and torsional modes in phacoemulsification, using active fluidics technology along with the intrepid balanced tip. 38
30249825 2018
30
Serum selenium levels are associated with age-related cataract. 38
30260193 2018
31
The Mediating Role of Perceived Social Support in the Relationships Between General Causality Orientations and Locus of Control With Psychopathological Symptoms. 38
30263069 2018
32
Optimized Computer-Aided Segmentation and Three-Dimensional Reconstruction Using Intracoronary Optical Coherence Tomography. 38
29969405 2018
33
Comparability of subjective and objective measurements of nuclear density in cataract patients. 38
29575599 2018
34
[Promotion of transplanted collagen scaffolds combined with brain-derived neurotrophic factor for axonal regeneration and motor function recovery in rats after transected spinal cord injury]. 38
29905040 2018
35
Correlation Between Postoperative Central Corneal Thickness and Endothelial Damage After Cataract Surgery by Phacoemulsification. 38
29303887 2018
36
A questionnaire survey of second year graduate-entry medical students' perception of obstetrics and gynaecology as a future career speciality. 38
29431009 2018
37
Content validation of behaviours and autonomic responses for the assessment of pain in critically ill adults with a brain injury. 38
29146105 2018
38
Taxol-modified collagen scaffold implantation promotes functional recovery after long-distance spinal cord complete transection in canines. 38
29528079 2018
39
The Chinese Catquest-9SF: validation and application in community screenings. 38
29554884 2018
40
A Lexical Approach to Identifying Dimensions of Organizational Culture. 38
29922200 2018
41
Limits of Concern: suggestions for the operationalisation of a concept to determine the relevance of adverse effects in the ERA of GMOs. 38
30416927 2018
42
Human placenta-derived mesenchymal stem cells loaded on linear ordered collagen scaffold improves functional recovery after completely transected spinal cord injury in canine. 38
28527111 2018
43
Screening of methylation genes in age-related cataract. 38
30046524 2018
44
From Presbyopia to Cataracts: A Critical Review on Dysfunctional Lens Syndrome. 38
30050689 2018
45
Human lens epithelial cell apoptosis and epithelial to mesenchymal transition in femtosecond laser-assisted cataract surgery. 38
29600173 2018
46
Can we improve the efficacy of modern cataract surgery by using different tip designs? A comparison of balanced and tapered tip in femtosecond laser-assisted cataract surgery and manual phacoemulsification. 38
28563995 2018
47
A Randomized Controlled Trial Comparing Outcomes of Cataract Surgery in Nanophthalmos With and Without Prophylactic Sclerostomy. 38
28911991 2017
48
Comparison of Wound Sealability Between Femtosecond Laser-Constructed and Manual Clear Corneal Incisions in Patients Undergoing Cataract Surgery: A Pilot Study. 38
29117413 2017
49
Straylight as an Indicator for Cataract Extraction in Patients with Retinal Dystrophy. 38
31047448 2017
50
The association of smokeless tobacco use and pack-years of smokeless tobacco with age-related macular degeneration in Indian population. 38
27903086 2017

Variations for Laryngoonychocutaneous Syndrome

ClinVar genetic disease variations for Laryngoonychocutaneous Syndrome:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LAMA3 NM_198129.3(LAMA3): c.8941C> T (p.Gln2981Ter) single nucleotide variant Pathogenic rs772038362 18:21519265-21519265 18:23939301-23939301
2 LAMA3 NM_198129.3(LAMA3): c.4998+1534dup duplication Pathogenic rs80356678 18:21453159-21453159 18:23873195-23873195
3 LAMA3 NM_198129.3(LAMA3): c.7797C> T (p.Asp2599=) single nucleotide variant Conflicting interpretations of pathogenicity rs61751706 18:21496533-21496533 18:23916569-23916569
4 LAMA3 NM_198129.3(LAMA3): c.7928G> T (p.Arg2643Leu) single nucleotide variant Uncertain significance rs45516998 18:21500903-21500903 18:23920939-23920939
5 LAMA3 NM_198129.3(LAMA3): c.8095G> A (p.Val2699Ile) single nucleotide variant Uncertain significance rs886053675 18:21501467-21501467 18:23921503-23921503
6 LAMA3 NM_198129.3(LAMA3): c.8278T> G (p.Cys2760Gly) single nucleotide variant Uncertain significance rs886053676 18:21508187-21508187 18:23928223-23928223
7 LAMA3 NM_198129.3(LAMA3): c.8282C> T (p.Ser2761Leu) single nucleotide variant Uncertain significance rs144549206 18:21508191-21508191 18:23928227-23928227
8 LAMA3 NM_198129.3(LAMA3): c.8664C> T (p.Gly2888=) single nucleotide variant Uncertain significance rs138908985 18:21512211-21512211 18:23932247-23932247
9 LAMA3 NM_198129.3(LAMA3): c.9028T> G (p.Ser3010Ala) single nucleotide variant Uncertain significance rs886053678 18:21523753-21523753 18:23943789-23943789
10 LAMA3 NM_198129.3(LAMA3): c.*48T> A single nucleotide variant Uncertain significance rs886053680 18:21534660-21534660 18:23954696-23954696
11 LAMA3 NM_198129.3(LAMA3): c.*126A> G single nucleotide variant Uncertain significance rs546219784 18:21534738-21534738 18:23954774-23954774
12 LAMA3 NM_198129.3(LAMA3): c.5613+13C> T single nucleotide variant Uncertain significance rs766241071 18:21475035-21475035 18:23895071-23895071
13 LAMA3 NM_198129.3(LAMA3): c.6013C> T (p.Arg2005Trp) single nucleotide variant Uncertain significance rs373250558 18:21481099-21481099 18:23901135-23901135
14 LAMA3 NM_198129.3(LAMA3): c.7465C> T (p.Arg2489Trp) single nucleotide variant Uncertain significance rs147463397 18:21494509-21494509 18:23914545-23914545
15 LAMA3 NM_198129.3(LAMA3): c.7519G> A (p.Ala2507Thr) single nucleotide variant Uncertain significance rs187899159 18:21494699-21494699 18:23914735-23914735
16 LAMA3 NM_198129.3(LAMA3): c.7590T> C (p.Asn2530=) single nucleotide variant Uncertain significance rs886053674 18:21494770-21494770 18:23914806-23914806
17 LAMA3 NM_198129.3(LAMA3): c.8204G> A (p.Arg2735Gln) single nucleotide variant Uncertain significance rs201106669 18:21508113-21508113 18:23928149-23928149
18 LAMA3 NM_198129.3(LAMA3): c.8327G> A (p.Gly2776Glu) single nucleotide variant Uncertain significance rs886053677 18:21508620-21508620 18:23928656-23928656
19 LAMA3 NM_198129.3(LAMA3): c.8657G> A (p.Arg2886His) single nucleotide variant Uncertain significance rs759770267 18:21512204-21512204 18:23932240-23932240
20 LAMA3 NM_198129.3(LAMA3): c.8708+4G> A single nucleotide variant Uncertain significance rs200417639 18:21512259-21512259 18:23932295-23932295
21 LAMA3 NM_198129.3(LAMA3): c.9241C> T (p.Arg3081Cys) single nucleotide variant Uncertain significance rs35762515 18:21526138-21526138 18:23946174-23946174
22 LAMA3 NM_198129.3(LAMA3): c.9512-11T> C single nucleotide variant Uncertain significance rs776372744 18:21529982-21529982 18:23950018-23950018
23 LAMA3 NM_198129.3(LAMA3): c.9589C> T (p.His3197Tyr) single nucleotide variant Uncertain significance rs776515886 18:21530070-21530070 18:23950106-23950106
24 LAMA3 NM_198129.3(LAMA3): c.4998+1413C> T single nucleotide variant Uncertain significance rs145044428 18:21453038-21453038 18:23873074-23873074
25 LAMA3 NM_198129.3(LAMA3): c.5493C> T (p.Asn1831=) single nucleotide variant Uncertain significance rs199982757 18:21474902-21474902 18:23894938-23894938
26 LAMA3 NM_198129.3(LAMA3): c.9738C> T (p.Val3246=) single nucleotide variant Uncertain significance rs886053679 18:21532955-21532955 18:23952991-23952991
27 LAMA3 NM_198129.3(LAMA3): c.9848G> A (p.Gly3283Asp) single nucleotide variant Uncertain significance rs763342168 18:21533065-21533065 18:23953101-23953101
28 LAMA3 NM_198129.3(LAMA3): c.9937G> C (p.Val3313Leu) single nucleotide variant Uncertain significance rs377024118 18:21534547-21534547 18:23954583-23954583
29 LAMA3 NM_198129.3(LAMA3): c.*239G> A single nucleotide variant Uncertain significance rs45543834 18:21534851-21534851 18:23954887-23954887
30 LAMA3 NM_198129.3(LAMA3): c.7505A> G (p.Asn2502Ser) single nucleotide variant Uncertain significance rs139823161 18:21494685-21494685 18:23914721-23914721
31 LAMA3 NM_198129.3(LAMA3): c.8829G> A (p.Arg2943=) single nucleotide variant Uncertain significance rs141472847 18:21513866-21513866 18:23933902-23933902
32 LAMA3 NM_198129.3(LAMA3): c.4998+1511A> C single nucleotide variant Uncertain significance rs760019923 18:21453136-21453136 18:23873172-23873172
33 LAMA3 NM_198129.3(LAMA3): c.5169T> C (p.Tyr1723=) single nucleotide variant Uncertain significance rs140561492 18:21461956-21461956 18:23881992-23881992
34 LAMA3 NM_198129.3(LAMA3): c.5223-13G> C single nucleotide variant Uncertain significance rs145241852 18:21464724-21464724 18:23884760-23884760
35 LAMA3 NM_198129.3(LAMA3): c.5522G> A (p.Arg1841His) single nucleotide variant Uncertain significance rs144475991 18:21474931-21474931 18:23894967-23894967
36 LAMA3 NM_000227.4(LAMA3): c.786+15_786+20delGCCGAG deletion Uncertain significance rs886053670 18:21475037-21475042 18:23895073-23895078
37 LAMA3 NM_198129.3(LAMA3): c.5621T> C (p.Leu1874Ser) single nucleotide variant Uncertain significance rs139348197 18:21478709-21478709 18:23898745-23898745
38 LAMA3 NM_198129.3(LAMA3): c.5773C> T (p.Arg1925Trp) single nucleotide variant Uncertain significance rs775241363 18:21478966-21478966 18:23899002-23899002
39 LAMA3 NM_198129.3(LAMA3): c.5997G> A (p.Ser1999=) single nucleotide variant Uncertain significance rs564308785 18:21479412-21479412 18:23899448-23899448
40 LAMA3 NM_198129.3(LAMA3): c.6509G> C (p.Arg2170Pro) single nucleotide variant Uncertain significance rs148728856 18:21484552-21484552 18:23904588-23904588
41 LAMA3 NM_198129.3(LAMA3): c.7593G> A (p.Leu2531=) single nucleotide variant Uncertain significance rs753332450 18:21494773-21494773 18:23914809-23914809
42 LAMA3 NM_198129.3(LAMA3): c.6690C> T (p.Ala2230=) single nucleotide variant Uncertain significance rs886053673 18:21485560-21485560 18:23905596-23905596
43 LAMA3 NM_198129.3(LAMA3): c.7336C> T (p.Arg2446Trp) single nucleotide variant Uncertain significance rs746635499 18:21494380-21494380 18:23914416-23914416
44 LAMA3 NM_198129.3(LAMA3): c.7482-5A> C single nucleotide variant Uncertain significance rs780657629 18:21494657-21494657 18:23914693-23914693
45 LAMA3 NM_198129.3(LAMA3): c.8193G> C (p.Thr2731=) single nucleotide variant Uncertain significance rs762861196 18:21508102-21508102 18:23928138-23928138
46 LAMA3 NM_198129.3(LAMA3): c.8283G> A (p.Ser2761=) single nucleotide variant Uncertain significance rs146634036 18:21508192-21508192 18:23928228-23928228
47 LAMA3 NM_198129.3(LAMA3): c.8576+7G> T single nucleotide variant Uncertain significance rs1258107 18:21511172-21511172 18:23931208-23931208
48 LAMA3 NM_198129.3(LAMA3): c.8629C> T (p.His2877Tyr) single nucleotide variant Uncertain significance rs35153125 18:21512176-21512176 18:23932212-23932212
49 LAMA3 NM_198129.3(LAMA3): c.8773G> A (p.Gly2925Arg) single nucleotide variant Uncertain significance rs112986465 18:21513810-21513810 18:23933846-23933846
50 LAMA3 NM_198129.3(LAMA3): c.5131G> A (p.Ala1711Thr) single nucleotide variant Uncertain significance rs369226812 18:21461918-21461918 18:23881954-23881954

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:

37
# 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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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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