MCID: LRY022
MIFTS: 29

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 53 49 24 71 36 28 13 69
Logic Syndrome 53 49 24 55
Locs 53 49 24 71
Laryngo-Onycho-Cutaneous Syndrome 49 24 55
Shabbir Syndrome 24 55
Loc Syndrome 24 55
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 55
Laryngo-Onychocutaneous Syndrome 69
Jeb-Loc 24

Characteristics:

Orphanet epidemiological data:

55
loc syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 53 245660
Orphanet 55 ORPHA2407
UMLS via Orphanet 70 C1328355
ICD10 via Orphanet 33 Q81.8
MedGen 39 C1328355
KEGG 36 H00813

Summaries for Laryngoonychocutaneous Syndrome

Genetics Home Reference : 24 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, and has symptoms including abnormality of the eye, hoarse cry and skin ulcer. 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.

UniProtKB/Swiss-Prot : 71 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 : 72 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:

# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, localized 11.1
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 periodontitis 10.2
8 retinoschisis 1, x-linked, juvenile 9.9
9 breast reconstruction 9.9
10 sleep disorder 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:

53
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:

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

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 28 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

38
Skin, Eye

Publications for Laryngoonychocutaneous Syndrome

Articles related to Laryngoonychocutaneous Syndrome:

# Title Authors Year
1
Diagnosis of insomnia sleep disorder using short time frequency analysis of PSD approach applied on EEG signal using channel ROC-LOC. ( 28123658 )
2016
2
A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. ( 23869449 )
2013
3
Aggressive periodontitis in a young Pakistani female with laryngo-onycho-cutaneous syndrome. ( 24351925 )
2013
4
Feasibility of use of a barbed suture (v-loc 180) for quilting the donor site in latissimus dorsi myocutaneous flap breast reconstruction. ( 23532830 )
2013
5
Common polymorphisms of the CFH, LOC 387715/ARMS2 and HTRA1 genes may not influence the intra-familial variability of X-linked juvenile retinoschisis. ( 21472264 )
2010
6
P63 expression in conjunctival proliferative diseases: pterygium and laryngo-onycho-cutaneous (LOC) syndrome. ( 18600487 )
2008
7
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. ( 17362460 )
2007
8
LOC 390443 (RNase 9) on chromosome 14q11.2 is related to the RNase A superfamily and contains a unique amino-terminal preproteinlike sequence. ( 15974301 )
2004
9
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
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 LAMA3, 1-BP INS, 151G insertion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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