Laryngoonychocutaneous Syndrome malady
Genetic diseases, Rare diseases, Eye diseases, Respiratory diseases, Skin diseases, Fetal diseases, Oral diseases categories
Aliases & Descriptions for Laryngoonychocutaneous Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Respiratory diseases, Skin diseases, Oral diseases
Rare eye diseases
Rare respiratory diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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 aggressive periodontitis and junctional epidermolysis bullosa, 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, 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
Symptoms by clinical synopsis from OMIM:245660
Clinical features from OMIM:245660
Symptoms:51 (show all 15)
HPO human phenotypes related to Laryngoonychocutaneous Syndrome:(show all 19)
MalaCards organs/tissues related to Laryngoonychocutaneous Syndrome:33
Skin, Eye, Lung
Search GEO for disease gene expression data for Laryngoonychocutaneous Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet