LOCS
MCID: LRY022
MIFTS: 23

Laryngoonychocutaneous Syndrome (LOCS) malady

Eye, Respiratory, Skin, Fetal categories

Summaries for Laryngoonychocutaneous Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 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).

Description from OMIM:47 245660

Aliases & Classifications for Laryngoonychocutaneous Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Respiratory, Skin


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 61
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 61
shabbir syndrome 49
loc syndrome 49
locs 43


External Ids:

OMIM47 245660
ICD10 via Orphanet26 Q81.8

Related Diseases for Laryngoonychocutaneous Syndrome

Sources:
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
3young syndrome10.4
4epidermolysis bullosa simplex, localized10.2
5breast reconstruction10.0
6junctional epidermolysis bullosa, non-herlitz type10.0

Graphical network of diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to laryngoonychocutaneous syndrome

Clinical Features for Laryngoonychocutaneous Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

245660

Clinical synopsis from OMIM:

245660

Symptoms:

49 (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

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Laryngoonychocutaneous Syndrome

Drug clinical trials:

Search ClinicalTrials for Laryngoonychocutaneous Syndrome

Search NIH Clinical Center for Laryngoonychocutaneous Syndrome

Search CenterWatch for Laryngoonychocutaneous Syndrome

Genetic Tests for Laryngoonychocutaneous Syndrome

Sources:
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

Animal Models for Laryngoonychocutaneous Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Laryngoonychocutaneous Syndrome

Genetic Variations for Laryngoonychocutaneous Syndrome

Expression for genes affiliated with Laryngoonychocutaneous Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Laryngoonychocutaneous Syndrome

GO Terms for genes affiliated with Laryngoonychocutaneous Syndrome

Products for genes affiliated with Laryngoonychocutaneous Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Laryngoonychocutaneous Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet