LOCS
MCID: LRY022
MIFTS: 31

Laryngoonychocutaneous Syndrome (LOCS) malady

Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Skin diseases, Fetal diseases, Oral diseases categories

Summaries for Laryngoonychocutaneous Syndrome

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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:48 245660

Aliases & Classifications for Laryngoonychocutaneous Syndrome

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
laryngo-onycho-cutaneous syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

laryngoonychocutaneous syndrome 44 21 23 48 63
laryngo-onycho-cutaneous syndrome 44 50
logic syndrome 44 50
laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome 50
laryngo-onychocutaneous syndrome 63
shabbir syndrome 50
loc syndrome 50
locs 44


External Ids:

OMIM48 245660
ICD10 via Orphanet27 Q81.8

Related Diseases for Laryngoonychocutaneous Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Laryngoonychocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Laryngoonychocutaneous Syndrome21 23 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

34
Skin, Eye, Lung

Animal Models for Laryngoonychocutaneous Syndrome or affiliated genes

About this section

Publications for Laryngoonychocutaneous Syndrome

About this section

Variations for Laryngoonychocutaneous Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Laryngoonychocutaneous Syndrome

About this section

GO Terms for genes affiliated with Laryngoonychocutaneous Syndrome

About this section

Products for genes affiliated with Laryngoonychocutaneous Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Laryngoonychocutaneous Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet