MCID: LRY022
MIFTS: 26

Laryngoonychocutaneous Syndrome 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 51 47 24 25 69 26 12 67
Logic Syndrome 47 24 25 53
Locs 47 24 25 69
Laryngo-Onycho-Cutaneous Syndrome 47 25 53
Shabbir Syndrome 25 53
 
Loc Syndrome 25 53
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 53
Laryngo-Onychocutaneous Syndrome 67
Jeb-Loc 25

Characteristics:

Orphanet epidemiological data:

53
logic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
laryngoonychocutaneous syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 245660
Orphanet53 ORPHA2407
ICD10 via Orphanet30 Q81.8
MedGen36 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 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:69 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:70 Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition... more...

Description from OMIM:51 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
4epidermolysis bullosa10.1
5periodontitis10.1
6retinoschisis9.8
7breast reconstruction9.8

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

Human phenotypes related to Laryngoonychocutaneous Syndrome:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 abnormality of dental enamel63 hallmark (90%) HP:0000682
2 abnormality of the fingernails63 hallmark (90%) HP:0001231
3 abnormality of the voice63 hallmark (90%) HP:0001608
4 anonychia63 hallmark (90%) HP:0001798
5 tracheoesophageal fistula63 hallmark (90%) HP:0002575
6 opacification of the corneal stroma63 hallmark (90%) HP:0007759
7 abnormality of the toenails63 hallmark (90%) HP:0008388
8 abnormal pigmentation of the oral mucosa63 hallmark (90%) HP:0100669
9 skin ulcer63 hallmark (90%) HP:0200042
10 respiratory insufficiency63 typical (50%) HP:0002093
11 recurrent respiratory infections63 typical (50%) HP:0002205
12 abnormality of the eye63 HP:0000478
13 amelogenesis imperfecta63 HP:0000705
14 weak cry63 HP:0001612
15 hoarse cry63 HP:0001615
16 recurrent loss of toenails and fingernails63 HP:0008390

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 Syndrome26 24 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

35
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, 151GinsertionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet