LOC syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LOCS
Laryngo-onycho-cutaneous syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
logic syndrome
Shabbir syndrome
Number of Symptoms 24
OrphanetNr: 2407
OMIM Id: 245660
ICD-10: Q81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic respiratory malformation
 -Rare genetic disease
Hereditary epidermolysis bullosa associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease
Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Respiratory malformation
 -Rare respiratory disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100669) Abnormal pigmentation of the oral mucosa Very frequent [Orphanet] 7 / 7739
2
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
3
 (HPO:0000705) Amelogenesis imperfecta 25 / 7739
4
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
5
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
6
 (HPO:0000478) Abnormality of the eye 126 / 7739
7
 (HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
8
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
9
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
10
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
11
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
12
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
13
 (HPO:0008390) Recurrent loss of toenails and fingernails 1 / 7739
14
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
15
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
16
 (HPO:0001612) Weak cry 17 / 7739
17
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
18
 (HPO:0001615) Hoarse cry 5 / 7739
19
 (HPO:0003593) Infantile onset 249 / 7739
20
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (OMIM) Vocal cord granuloma 1 / 7739
23
 (OMIM) Dermal granuloma 1 / 7739
24
 (OMIM) Conjunctival scarring 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shabbir et al. (1986) described a novel autosomal recessive syndrome, which they called laryngoonychocutaneous syndrome, in 22 patients in 12 families living in Lahore, Pakistan. Beginning within 2 weeks of birth, the disorder presented with hoarseness (which was ...
Molecular genetics OMIM McLean et al. (2003) noted that mutations in a candidate gene on chromosome 18q11.2, laminin alpha-3 (LAMA3; 600805), cause the lethal skin blistering disorder Herlitz-Pearson junctional epidermolysis bullosa. The gene encodes 3 distinct proteins, designated laminin alpha-3a, alpha-3b1 ...