MCID: LRY022
MIFTS: 27

Laryngoonychocutaneous Syndrome malady

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

Aliases & Classifications for Laryngoonychocutaneous Syndrome

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Aliases & Descriptions for Laryngoonychocutaneous Syndrome:

Name: Laryngoonychocutaneous Syndrome 50 23 24 68 25 12 66
Logic Syndrome 23 24 52
Locs 23 24 68
Laryngo-Onycho-Cutaneous Syndrome 24 52
Shabbir Syndrome 24 52
 
Loc Syndrome 24 52
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 52
Laryngo-Onychocutaneous Syndrome 66
Jeb-Loc 24

Characteristics:

Orphanet epidemiological data:

52
logic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
laryngoonychocutaneous syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 245660
Orphanet52 ORPHA2407
ICD10 via Orphanet29 Q81.8
MedGen35 C1328355

Summaries for Laryngoonychocutaneous Syndrome

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Genetics Home Reference:24 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 dental enamel, abnormality of the fingernails and abnormality of the voice. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (Laminin Subunit Alpha 3). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:68 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:69 Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition... more...

Description from OMIM:50 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 type11.2
2epidermolysis bullosa, junctional, non-herlitz type10.9
3aggressive periodontitis10.3
4epidermolysis bullosa10.3
5junctional epidermolysis bullosa10.3
6periodontitis10.3
7retinoschisis9.9
8breast reconstruction9.9
9x-linked juvenile retinoschisis9.9
10juvenile retinoschisis9.9

Graphical network of diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to laryngoonychocutaneous syndrome

Symptoms for Laryngoonychocutaneous Syndrome

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Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

HPO human phenotypes related to Laryngoonychocutaneous Syndrome:

(show all 17)
id Description Frequency HPO Source Accession
1 abnormality of dental enamel hallmark (90%) HP:0000682
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 abnormality of the voice hallmark (90%) HP:0001608
4 anonychia hallmark (90%) HP:0001798
5 tracheoesophageal fistula hallmark (90%) HP:0002575
6 opacification of the corneal stroma hallmark (90%) HP:0007759
7 abnormality of the toenails hallmark (90%) HP:0008388
8 abnormal pigmentation of the oral mucosa hallmark (90%) HP:0100669
9 skin ulcer hallmark (90%) HP:0200042
10 respiratory insufficiency typical (50%) HP:0002093
11 recurrent respiratory infections typical (50%) HP:0002205
12 abnormality of the eye HP:0000478
13 amelogenesis imperfecta HP:0000705
14 weak cry HP:0001612
15 hoarse cry HP:0001615
16 recurrent loss of toenails and fingernails HP:0008390
17 skin ulcer HP:0200042

UMLS symptoms related to Laryngoonychocutaneous Syndrome:


koilonychia, onychomadesis, nail discomfort, nail bed hemorrhage, nail bed tenderness, larynx irritation, ortner's syndrome, abnormal nail growth

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 Syndrome25 23 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

34
Skin, Eye

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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet