eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| laryngoonychocutaneous syndrome | ||||
| Disease ID | 1919 |
|---|---|
| Disease | laryngoonychocutaneous syndrome |
| Definition | LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor. |
| Synonym | laryngeal and ocular granulation in indian children laryngo onycho cutaneous syndrome laryngo-onycho-cutaneous syndrome laryngo-onycho-cutaneous syndrome (disorder) laryngo-onychocutaneous syndrome laryngo-onychocutaneous syndrome (disorder) loc syndrome logic syndrome shabbir syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1328355 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0006142 | breast cancer | 2 C0024299 | lymphoma | 1 C0021053 | immune disease | 1 C0022573 | keratoconjunctivitis | 1 C0677607 | hashimoto's thyroiditis | 1 C0242379 | lung cancer | 1 C0022575 | keratoconjunctivitis sicca | 1 C0030421 | paraganglioma | 1 C0280317 | squamous cell carcinoma of the tonsil | 1 C0006413 | burkitt's lymphoma | 1 C0007137 | squamous cell carcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1919 |
|---|---|
| Disease | laryngoonychocutaneous syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000705 | Amelogenesis imperfecta HP:0001615 | Hoarse cry HP:0001612 | Weak cry HP:0000478 | Abnormal eye HP:0200042 | Skin ulcer HP:0008390 | Recurrent shedding of toenails and fingernails |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0003002 | Breast carcinoma | 2 HP:0002668 | Paragangliomas | 1 HP:0040154 | Hidradenitis suppurativa | 1 HP:0002665 | Lymphoma | 1 HP:0012444 | Brain wasting | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0001096 | Keratoconjunctivitis | 1 HP:0000572 | Visual loss | 1 HP:0001250 | Seizures | 1 HP:0001061 | Acne | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002960 | Autoimmune condition | 1 HP:0030731 | Carcinoma | 1 HP:0001097 | Keratoconjunctivitis sicca | 1 HP:0000872 | Hashimoto's thyroiditis | 1 |
| Disease ID | 1919 |
|---|---|
| Disease | laryngoonychocutaneous syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001612 | Weak cry | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001615 | Hoarse cry | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008390 | Recurrent loss of toenails and fingernails | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0000705 | Amelogenesis imperfecta | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| Disease ID | 1919 |
|---|---|
| Disease | laryngoonychocutaneous syndrome |
| Case | (Waiting for update.) |