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

Aliases & Descriptions for Laryngoonychocutaneous Syndrome:

Name: Laryngoonychocutaneous Syndrome 54 50 24 25 66 29 13 69
Logic Syndrome 50 24 25 56
Locs 50 24 25 66
Laryngo-Onycho-Cutaneous Syndrome 50 25 56
Shabbir Syndrome 25 56
Loc Syndrome 25 56
Laryngeal and Ocular Granulation Tissue in Children from the Indian Subcontinent Syndrome 56
Laryngo-Onychocutaneous Syndrome 69
Jeb-Loc 25

Characteristics:

Orphanet epidemiological data:

56
loc syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
laryngoonychocutaneous syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 245660
Orphanet 56 ORPHA2407
ICD10 via Orphanet 34 Q81.8
MedGen 40 C1328355

Summaries for Laryngoonychocutaneous Syndrome

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 localized junctional epidermolysis bullosa, non-herlitz type, and has symptoms including abnormality of the eye, hoarse cry and skin ulcer. An important gene associated with Laryngoonychocutaneous Syndrome is LAMA3 (Laminin Subunit Alpha 3). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 66 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: 245660

Related Diseases for Laryngoonychocutaneous Syndrome

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

id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa simplex, weber-cockayne type 11.0
2 localized junctional epidermolysis bullosa, non-herlitz type 10.8
3 epidermolysis bullosa, junctional, non-herlitz type 10.8
4 aggressive periodontitis 10.1
5 epidermolysis bullosa 10.1
6 junctional epidermolysis bullosa 10.1
7 periodontitis 10.1
8 retinoschisis 9.8
9 breast reconstruction 9.8

Graphical network of the top 20 diseases related to Laryngoonychocutaneous Syndrome:



Diseases related to Laryngoonychocutaneous Syndrome

Symptoms & Phenotypes for Laryngoonychocutaneous Syndrome

Symptoms by clinical synopsis from OMIM:

245660

Clinical features from OMIM:

245660

Human phenotypes related to Laryngoonychocutaneous Syndrome:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 hoarse cry 32 HP:0001615
3 skin ulcer 32 HP:0200042
4 weak cry 32 HP:0001612
5 amelogenesis imperfecta 32 HP:0000705
6 recurrent loss of toenails and fingernails 32 HP:0008390

Drugs & Therapeutics for Laryngoonychocutaneous Syndrome

Search Clinical Trials , NIH Clinical Center for Laryngoonychocutaneous Syndrome

Genetic Tests for Laryngoonychocutaneous Syndrome

Genetic tests related to Laryngoonychocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Laryngoonychocutaneous Syndrome 29 24 LAMA3

Anatomical Context for Laryngoonychocutaneous Syndrome

MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:

39
Skin, Eye

Publications for Laryngoonychocutaneous Syndrome

Variations for Laryngoonychocutaneous Syndrome

ClinVar genetic disease variations for Laryngoonychocutaneous Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 LAMA3, 1-BP INS, 151G insertion Pathogenic

Expression for Laryngoonychocutaneous Syndrome

Search GEO for disease gene expression data for Laryngoonychocutaneous Syndrome.

Pathways for Laryngoonychocutaneous Syndrome

GO Terms for Laryngoonychocutaneous Syndrome

Sources for Laryngoonychocutaneous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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