LOCS
MCID: LRY022
MIFTS: 30

Laryngoonychocutaneous Syndrome (LOCS) malady

Eye diseases, Respiratory diseases, Skin diseases, Fetal diseases categories

Summaries for Laryngoonychocutaneous Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 repeat respiratory infections, respiratory distress/dyspnea/respiratory failure/lung volume reduction and death in infancy. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (laminin, alpha 3). Affiliated tissues include skin, lung and eye.

Description from OMIM:46 245660

Aliases & Classifications for Laryngoonychocutaneous Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

laryngoonychocutaneous syndrome 42 20 22 46 60
laryngo-onycho-cutaneous syndrome 42 48
logic syndrome 42 48
laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome 48
laryngo-onychocutaneous syndrome 60
shabbir syndrome 48
loc syndrome 48
locs 42


External Ids:

OMIM46 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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1aggressive periodontitis10.4
2junctional epidermolysis bullosa10.4
3n syndrome10.4
4epidermolysis bullosa10.4
5periodontitis10.4
6epidermolysis bullosa simplex, localized10.1
7breast reconstruction10.0
8conjunctival disease10.0
9pterygium10.0
10retinoschisis10.0
11junctional epidermolysis bullosa, non-herlitz type10.0

Graphical network of diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to laryngoonychocutaneous syndrome

Clinical Features for Laryngoonychocutaneous Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

245660

Clinical synopsis from OMIM:

245660

Symptoms:

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

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

32
Skin, Lung, Eye

Animal Models for Laryngoonychocutaneous Syndrome or affiliated genes

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Publications for Laryngoonychocutaneous Syndrome

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Genetic Variations for Laryngoonychocutaneous Syndrome

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Expression for genes affiliated with Laryngoonychocutaneous Syndrome

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet