LOCS
MCID: LRY022
MIFTS: 25

Laryngoonychocutaneous Syndrome (LOCS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Laryngoonychocutaneous Syndrome

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Aliases & Descriptions for Laryngoonychocutaneous Syndrome:

Name: Laryngoonychocutaneous Syndrome 52 48 24 25 70 27 12 68
Logic Syndrome 48 24 25 54
Locs 48 24 25 70
Laryngo-Onycho-Cutaneous Syndrome 48 25 54
Shabbir Syndrome 25 54
 
Loc Syndrome 25 54
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 54
Laryngo-Onychocutaneous Syndrome 68
Jeb-Loc 25

Characteristics:

Orphanet epidemiological data:

54
logic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
laryngoonychocutaneous syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 245660
Orphanet54 ORPHA2407
ICD10 via Orphanet31 Q81.8
MedGen37 C1328355

Summaries for Laryngoonychocutaneous Syndrome

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Genetics Home Reference:25 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 logic syndrome, is related to epidermolysis bullosa simplex, weber-cockayne type and epidermolysis bullosa, junctional, non-herlitz type, and has symptoms including abnormality of the eye, amelogenesis imperfecta and weak cry. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (Laminin Subunit Alpha 3). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:70 Laryngoonychocutaneous syndrome: Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx.

Wikipedia:71 Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition... more...

Description from OMIM:52 245660

Related Diseases for Laryngoonychocutaneous Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex, weber-cockayne type11.0
2epidermolysis bullosa, junctional, non-herlitz type10.8
3localized junctional epidermolysis bullosa, non-herlitz type10.8
4aggressive periodontitis10.1
5epidermolysis bullosa10.1
6junctional epidermolysis bullosa10.1
7periodontitis10.1
8retinoschisis9.8
9breast reconstruction9.8

Graphical network of diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to laryngoonychocutaneous syndrome

Symptoms & Phenotypes for Laryngoonychocutaneous Syndrome

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Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

Human phenotypes related to Laryngoonychocutaneous Syndrome:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye64 HP:0000478
2 amelogenesis imperfecta64 HP:0000705
3 weak cry64 HP:0001612
4 hoarse cry64 HP:0001615
5 recurrent loss of toenails and fingernails64 HP:0008390
6 skin ulcer64 HP:0200042

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome27 24 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

36
Skin, Eye

Publications for Laryngoonychocutaneous Syndrome

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Variations for Laryngoonychocutaneous Syndrome

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Clinvar genetic disease variations for Laryngoonychocutaneous Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LAMA3LAMA3, 1-BP INS, 151GinsertionPathogenic

Expression for genes affiliated with Laryngoonychocutaneous Syndrome

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Search GEO for disease gene expression data for Laryngoonychocutaneous Syndrome.

Pathways for genes affiliated with Laryngoonychocutaneous Syndrome

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GO Terms for genes affiliated with Laryngoonychocutaneous Syndrome

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Sources for Laryngoonychocutaneous Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet