MCID: LRY022
MIFTS: 28

Laryngoonychocutaneous Syndrome

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

Aliases & Classifications for Laryngoonychocutaneous Syndrome

MalaCards integrated aliases for Laryngoonychocutaneous Syndrome:

Name: Laryngoonychocutaneous Syndrome 57 53 25 75 29 13 6 40 73
Logic Syndrome 57 53 25 59
Locs 57 53 25 75
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 73
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
Orphanet 59 ORPHA2407
UMLS via Orphanet 74 C1328355
ICD10 via Orphanet 34 Q81.8
MedGen 42 C1328355
KEGG 37 H00813

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.

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. Affiliated tissues include skin and eye, and related phenotypes are abnormality of the eye and amelogenesis imperfecta

UniProtKB/Swiss-Prot : 75 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 : 76 Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition inherited in... more...

Description 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 12)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, localized 11.0
2 epidermolysis bullosa, junctional, non-herlitz type 10.9
3 localized junctional epidermolysis bullosa, non-herlitz type 10.9
4 aggressive periodontitis 10.2
5 epidermolysis bullosa 10.2
6 junctional epidermolysis bullosa 10.2
7 laryngitis 10.2
8 periodontitis 10.2
9 retinoschisis 1, x-linked, juvenile 9.9
10 breast reconstruction 9.9
11 sleep disorder 9.9
12 juvenile retinoschisis 9.9

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



Diseases related to Laryngoonychocutaneous Syndrome

Symptoms & Phenotypes for Laryngoonychocutaneous Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin:
dermal granuloma
skin ulceration

Voice:
hoarse cry
weak cry

Nails:
recurrent loss of toenails and fingernails

Teeth:
amelogenesis imperfecta

Resp:
vocal cord granuloma

Misc:
onset in early infancy
death common in childhood

Eyes:
conjunctival scarring


Clinical features from OMIM:

245660

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 amelogenesis imperfecta 32 HP:0000705
3 weak cry 32 HP:0001612
4 hoarse cry 32 HP:0001615
5 recurrent loss of toenails and fingernails 32 HP:0008390
6 skin ulcer 32 HP:0200042

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

Search Clinical Trials , 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
Skin, Eye

Publications for Laryngoonychocutaneous Syndrome

Articles related to Laryngoonychocutaneous Syndrome:

# Title Authors Year
1
Aggressive periodontitis in a young Pakistani female with laryngo-onycho-cutaneous syndrome. ( 24351925 )
2013
2
A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. ( 23869449 )
2013
3
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. ( 17362460 )
2007
4
Successful treatment of laryngeal stenosis in laryngo-onycho-cutaneous syndrome with topical mitomycin C. ( 16445419 )
2006
5
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. ( 12915477 )
2003

Variations for Laryngoonychocutaneous Syndrome

ClinVar genetic disease variations for Laryngoonychocutaneous Syndrome:

6
(show top 50) (show all 155)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 LAMA3, 1-BP INS, 151G insertion Pathogenic
2 LAMA3 NM_000227.4(LAMA3): c.495C> T (p.Phe165=) single nucleotide variant Benign rs958631 GRCh38 Chromosome 18, 23890029: 23890029
3 LAMA3 NM_000227.4(LAMA3): c.495C> T (p.Phe165=) single nucleotide variant Benign rs958631 GRCh37 Chromosome 18, 21469993: 21469993
4 LAMA3 NM_000227.4(LAMA3): c.1320C> G (p.Ala440=) single nucleotide variant Benign rs1154226 GRCh37 Chromosome 18, 21481233: 21481233
5 LAMA3 NM_000227.4(LAMA3): c.1320C> G (p.Ala440=) single nucleotide variant Benign rs1154226 GRCh38 Chromosome 18, 23901269: 23901269
6 LAMA3 NM_000227.4(LAMA3): c.3618C> A (p.Asn1206Lys) single nucleotide variant Benign rs1154232 GRCh37 Chromosome 18, 21511034: 21511034
7 LAMA3 NM_000227.4(LAMA3): c.3618C> A (p.Asn1206Lys) single nucleotide variant Benign rs1154232 GRCh38 Chromosome 18, 23931070: 23931070
8 LAMA3 NM_000227.4(LAMA3): c.3673G= (p.Gly1225=) single nucleotide variant Benign rs1154233 GRCh37 Chromosome 18, 21511089: 21511089
9 LAMA3 NM_000227.4(LAMA3): c.3673G= (p.Gly1225=) single nucleotide variant Benign rs1154233 GRCh38 Chromosome 18, 23931125: 23931125
10 LAMA3 NM_000227.4(LAMA3): c.3749+7G> C single nucleotide variant Benign rs1258107 GRCh38 Chromosome 18, 23931208: 23931208
11 LAMA3 NM_000227.4(LAMA3): c.3749+7G> C single nucleotide variant Benign rs1258107 GRCh37 Chromosome 18, 21511172: 21511172
12 LAMA3 NM_000227.4(LAMA3): c.3904C> T (p.Leu1302=) single nucleotide variant Benign rs1131521 GRCh37 Chromosome 18, 21513768: 21513768
13 LAMA3 NM_000227.4(LAMA3): c.3904C> T (p.Leu1302=) single nucleotide variant Benign rs1131521 GRCh38 Chromosome 18, 23933804: 23933804
14 LAMA3 NM_000227.4(LAMA3): c.4525-7G> A single nucleotide variant Benign rs2241643 GRCh38 Chromosome 18, 23949758: 23949758
15 LAMA3 NM_000227.4(LAMA3): c.4525-7G> A single nucleotide variant Benign rs2241643 GRCh37 Chromosome 18, 21529722: 21529722
16 LAMA3 NM_000227.4(LAMA3): c.4526G> A (p.Ser1509Asn) single nucleotide variant Benign/Likely benign rs61749943 GRCh37 Chromosome 18, 21529730: 21529730
17 LAMA3 NM_000227.4(LAMA3): c.4526G> A (p.Ser1509Asn) single nucleotide variant Benign/Likely benign rs61749943 GRCh38 Chromosome 18, 23949766: 23949766
18 LAMA3 NM_000227.4(LAMA3): c.2678A> G (p.Asn893Ser) single nucleotide variant Uncertain significance rs139823161 GRCh37 Chromosome 18, 21494685: 21494685
19 LAMA3 NM_000227.4(LAMA3): c.2678A> G (p.Asn893Ser) single nucleotide variant Uncertain significance rs139823161 GRCh38 Chromosome 18, 23914721: 23914721
20 LAMA3 NM_000227.4(LAMA3): c.4002G> A (p.Arg1334=) single nucleotide variant Uncertain significance rs141472847 GRCh37 Chromosome 18, 21513866: 21513866
21 LAMA3 NM_000227.4(LAMA3): c.4002G> A (p.Arg1334=) single nucleotide variant Uncertain significance rs141472847 GRCh38 Chromosome 18, 23933902: 23933902
22 LAMA3 NM_000227.4(LAMA3): c.128A> C (p.Gln43Pro) single nucleotide variant Uncertain significance rs760019923 GRCh38 Chromosome 18, 23873172: 23873172
23 LAMA3 NM_000227.4(LAMA3): c.128A> C (p.Gln43Pro) single nucleotide variant Uncertain significance rs760019923 GRCh37 Chromosome 18, 21453136: 21453136
24 LAMA3 NM_000227.4(LAMA3): c.342T> C (p.Tyr114=) single nucleotide variant Uncertain significance rs140561492 GRCh38 Chromosome 18, 23881992: 23881992
25 LAMA3 NM_000227.4(LAMA3): c.342T> C (p.Tyr114=) single nucleotide variant Uncertain significance rs140561492 GRCh37 Chromosome 18, 21461956: 21461956
26 LAMA3 NM_000227.4(LAMA3): c.396-13G> C single nucleotide variant Uncertain significance rs145241852 GRCh38 Chromosome 18, 23884760: 23884760
27 LAMA3 NM_000227.4(LAMA3): c.396-13G> C single nucleotide variant Uncertain significance rs145241852 GRCh37 Chromosome 18, 21464724: 21464724
28 LAMA3 NM_000227.4(LAMA3): c.695G> A (p.Arg232His) single nucleotide variant Uncertain significance rs144475991 GRCh37 Chromosome 18, 21474931: 21474931
29 LAMA3 NM_000227.4(LAMA3): c.695G> A (p.Arg232His) single nucleotide variant Uncertain significance rs144475991 GRCh38 Chromosome 18, 23894967: 23894967
30 LAMA3 NM_000227.4(LAMA3): c.786+15_786+20delGCCGAG deletion Uncertain significance rs886053670 GRCh37 Chromosome 18, 21475037: 21475042
31 LAMA3 NM_000227.4(LAMA3): c.786+15_786+20delGCCGAG deletion Uncertain significance rs886053670 GRCh38 Chromosome 18, 23895073: 23895078
32 LAMA3 NM_000227.4(LAMA3): c.794T> C (p.Leu265Ser) single nucleotide variant Uncertain significance rs139348197 GRCh37 Chromosome 18, 21478709: 21478709
33 LAMA3 NM_000227.4(LAMA3): c.794T> C (p.Leu265Ser) single nucleotide variant Uncertain significance rs139348197 GRCh38 Chromosome 18, 23898745: 23898745
34 LAMA3 NM_000227.4(LAMA3): c.946C> T (p.Arg316Trp) single nucleotide variant Uncertain significance rs775241363 GRCh37 Chromosome 18, 21478966: 21478966
35 LAMA3 NM_000227.4(LAMA3): c.946C> T (p.Arg316Trp) single nucleotide variant Uncertain significance rs775241363 GRCh38 Chromosome 18, 23899002: 23899002
36 LAMA3 NM_000227.4(LAMA3): c.1170G> A (p.Ser390=) single nucleotide variant Uncertain significance rs564308785 GRCh37 Chromosome 18, 21479412: 21479412
37 LAMA3 NM_000227.4(LAMA3): c.1170G> A (p.Ser390=) single nucleotide variant Uncertain significance rs564308785 GRCh38 Chromosome 18, 23899448: 23899448
38 LAMA3 NM_000227.4(LAMA3): c.1682G> C (p.Arg561Pro) single nucleotide variant Uncertain significance rs148728856 GRCh37 Chromosome 18, 21484552: 21484552
39 LAMA3 NM_000227.4(LAMA3): c.1682G> C (p.Arg561Pro) single nucleotide variant Uncertain significance rs148728856 GRCh38 Chromosome 18, 23904588: 23904588
40 LAMA3 NM_000227.4(LAMA3): c.2766G> A (p.Leu922=) single nucleotide variant Uncertain significance rs753332450 GRCh38 Chromosome 18, 23914809: 23914809
41 LAMA3 NM_000227.4(LAMA3): c.2766G> A (p.Leu922=) single nucleotide variant Uncertain significance rs753332450 GRCh37 Chromosome 18, 21494773: 21494773
42 LAMA3 NM_000227.4(LAMA3): c.2970C> T (p.Asp990=) single nucleotide variant Conflicting interpretations of pathogenicity rs61751706 GRCh38 Chromosome 18, 23916569: 23916569
43 LAMA3 NM_000227.4(LAMA3): c.2970C> T (p.Asp990=) single nucleotide variant Conflicting interpretations of pathogenicity rs61751706 GRCh37 Chromosome 18, 21496533: 21496533
44 LAMA3 NM_000227.4(LAMA3): c.3101G> T (p.Arg1034Leu) single nucleotide variant Uncertain significance rs45516998 GRCh38 Chromosome 18, 23920939: 23920939
45 LAMA3 NM_000227.4(LAMA3): c.3101G> T (p.Arg1034Leu) single nucleotide variant Uncertain significance rs45516998 GRCh37 Chromosome 18, 21500903: 21500903
46 LAMA3 NM_000227.4(LAMA3): c.3268G> A (p.Val1090Ile) single nucleotide variant Uncertain significance rs886053675 GRCh38 Chromosome 18, 23921503: 23921503
47 LAMA3 NM_000227.4(LAMA3): c.3268G> A (p.Val1090Ile) single nucleotide variant Uncertain significance rs886053675 GRCh37 Chromosome 18, 21501467: 21501467
48 LAMA3 NM_000227.4(LAMA3): c.3451T> G (p.Cys1151Gly) single nucleotide variant Uncertain significance rs886053676 GRCh38 Chromosome 18, 23928223: 23928223
49 LAMA3 NM_000227.4(LAMA3): c.3451T> G (p.Cys1151Gly) single nucleotide variant Uncertain significance rs886053676 GRCh37 Chromosome 18, 21508187: 21508187
50 LAMA3 NM_000227.4(LAMA3): c.3455C> T (p.Ser1152Leu) single nucleotide variant Uncertain significance rs144549206 GRCh38 Chromosome 18, 23928227: 23928227

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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