MCID: LRY022
MIFTS: 28

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 49 11 45 22 23 67 24 65
Logic Syndrome 45 22 23 51
Locs 45 22 23 67
Laryngo-Onycho-Cutaneous Syndrome 45 23 51
Shabbir Syndrome 23 51
 
Loc Syndrome 23 51
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 51
Laryngo-Onychocutaneous Syndrome 65
Jeb-Loc 23

Characteristics:

Orphanet epidemiological data:

51
logic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
laryngoonychocutaneous syndrome:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 245660
Orphanet51 2407
ICD10 via Orphanet28 Q81.8
MedGen34 C1328355
UMLS65 C0457017, C1328355

Summaries for Laryngoonychocutaneous Syndrome

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Genetics Home Reference:23 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 localized junctional epidermolysis bullosa, non-herlitz type, and has symptoms including skin ulcer, abnormal pigmentation of the oral mucosa and abnormality of the toenails. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (Laminin Subunit Alpha 3). Affiliated tissues include skin, eye and lung.

UniProtKB/Swiss-Prot:67 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:68 Shabbir syndrome (also known as laryngo–onycho–cutaneous syndrome) is a cutaneous condition... more...

Description from OMIM:49 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
2localized junctional epidermolysis bullosa, non-herlitz type11.1
3aggressive periodontitis10.3
4epidermolysis bullosa10.3
5junctional epidermolysis bullosa10.3
6periodontitis10.3
7retinoschisis9.9
8breast reconstruction9.9
9x-linked juvenile 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

Symptoms:

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

HPO human phenotypes related to Laryngoonychocutaneous Syndrome:

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

UMLS symptoms related to Laryngoonychocutaneous Syndrome:


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

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 Syndrome22 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

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MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

33
Skin, Eye, Lung, Bone

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet