LOCS
MCID: LRY022
MIFTS: 31

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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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Shabbir syndrome (also known as \"Laryngo?onycho?cutaneous syndrome\") is a cutaneous condition... more...

MalaCards: Laryngoonychocutaneous Syndrome, also known as laryngo-onycho-cutaneous syndrome, is related to aggressive periodontitis and junctional epidermolysis bullosa, and has symptoms including abnormal toenails, abnormal fingernails and abnormal pigmentation of the oral mucosa/gingivae. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (laminin, alpha 3). Affiliated tissues include skin, eye and lung.

Description from OMIM:47 245660

Aliases & Classifications for Laryngoonychocutaneous Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
laryngo-onycho-cutaneous syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

laryngoonychocutaneous syndrome 43 20 22 47 62
laryngo-onycho-cutaneous syndrome 43 49
logic syndrome 43 49
laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome 49
laryngo-onychocutaneous syndrome 62
shabbir syndrome 49
loc syndrome 49
locs 43


External Ids:

OMIM47 245660
ICD10 via Orphanet26 Q81.8

Related Diseases for Laryngoonychocutaneous Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

Symptoms:

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

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

33
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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Laryngoonychocutaneous Syndrome:

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

Expression for genes affiliated with Laryngoonychocutaneous Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Laryngoonychocutaneous Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet