LOCS
MCID: LRY022
MIFTS: 32

Laryngoonychocutaneous Syndrome (LOCS) malady

Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Skin diseases, Fetal diseases, Oral diseases categories
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Summaries for Laryngoonychocutaneous Syndrome

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Genetics Home Reference:21 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 laryngo-onycho-cutaneous syndrome, is related to aggressive periodontitis and junctional epidermolysis bullosa, and has symptoms including corneal clouding/opacity/vascularisation, abnormal pigmentation of the oral mucosa/gingivae and anomalies of teeth and dentition. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (laminin, alpha 3). Affiliated tissues include skin, eye and lung.

Wikipedia:65 Shabbir syndrome (also known as laryngo?onycho?cutaneous syndrome) is a cutaneous condition inherited in... more...

Description from OMIM:46 245660

Aliases & Classifications for Laryngoonychocutaneous Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Laryngoonychocutaneous Syndrome, Aliases & Descriptions:

Name: Laryngoonychocutaneous Syndrome 42 20 22 21 46 62
Laryngo-Onycho-Cutaneous Syndrome 42 21 48
Logic Syndrome 42 21 48
Shabbir Syndrome 21 48
Loc Syndrome 21 48
 
Locs 42 21
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 48
Laryngo Onycho Cutaneous Syndrome 62
Laryngo-Onychocutaneous Syndrome 62
Jeb-Loc 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
laryngo-onycho-cutaneous syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 245660
ICD10 via Orphanet26 Q81.8

Related Diseases for Laryngoonychocutaneous Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1aggressive periodontitis10.4
2junctional epidermolysis bullosa10.4
3epidermolysis bullosa10.4
4periodontitis10.4
5epidermolysis bullosa simplex, localized10.2
6breast reconstruction10.0
7pterygium10.0
8retinoschisis10.0
9x-linked juvenile retinoschisis10.0
10junctional epidermolysis bullosa, non-herlitz type10.0

Graphical network of diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to laryngoonychocutaneous syndrome

Symptoms for Laryngoonychocutaneous Syndrome

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Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

Symptoms:

48 (show all 15)
  • corneal clouding/opacity/vascularisation
  • abnormal pigmentation of the oral mucosa/gingivae
  • anomalies of teeth and dentition
  • enamel anomaly
  • anomalies of skin, subcutaneous tissue and mucosae
  • chronic skin infection/ulcerations/ulcers/cancrum
  • abnormal fingernails
  • absent/small fingernails/anonychia of hands
  • abnormal toenails
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • abnormal cry/voice/phonation disorder/nasal speech
  • autosomal recessive inheritance
  • death in infancy
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • repeat respiratory infections

HPO human phenotypes related to Laryngoonychocutaneous Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of dental enamel hallmark (90%) HP:0000682
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 abnormality of the voice hallmark (90%) HP:0001608
4 anonychia hallmark (90%) HP:0001798
5 tracheoesophageal fistula hallmark (90%) HP:0002575
6 opacification of the corneal stroma hallmark (90%) HP:0007759
7 abnormality of the toenail hallmark (90%) HP:0008388
8 abnormal pigmentation of the oral mucosa hallmark (90%) HP:0100669
9 skin ulcer hallmark (90%) HP:0200042
10 respiratory insufficiency typical (50%) HP:0002093
11 recurrent respiratory infections typical (50%) HP:0002205
12 autosomal recessive inheritance HP:0000007
13 abnormality of the eye HP:0000478
14 amelogenesis imperfecta HP:0000705
15 weak cry HP:0001612
16 hoarse cry HP:0001615
17 infantile onset HP:0003593
18 recurrent loss of toenails and fingernails HP:0008390
19 skin ulcer HP:0200042

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

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Drug clinical trials:

Search ClinicalTrials for Laryngoonychocutaneous Syndrome

Search NIH Clinical Center for Laryngoonychocutaneous Syndrome

Genetic Tests for Laryngoonychocutaneous Syndrome

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Genetic tests related to Laryngoonychocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Laryngoonychocutaneous Syndrome20 22 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

32
Skin, Eye, Lung

Animal Models for Laryngoonychocutaneous Syndrome or affiliated genes

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Publications for Laryngoonychocutaneous Syndrome

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Variations for Laryngoonychocutaneous Syndrome

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Clinvar genetic disease variations for Laryngoonychocutaneous Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1LAMA3LAMA3, 1-BP INS, 151GinsertionPathogenic

Expression for genes affiliated with Laryngoonychocutaneous Syndrome

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Expression patterns in normal tissues for genes affiliated with Laryngoonychocutaneous Syndrome

Search GEO for disease gene expression data for Laryngoonychocutaneous Syndrome.

Pathways for genes affiliated with Laryngoonychocutaneous Syndrome

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Compounds for genes affiliated with Laryngoonychocutaneous Syndrome

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GO Terms for genes affiliated with Laryngoonychocutaneous Syndrome

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Products for genes affiliated with Laryngoonychocutaneous Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Laryngoonychocutaneous Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet