ORPHA:2407
Laryngo-onycho-cutaneous syndrome
Synonyms: LOC syndrome · LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome · Shabbir syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laryngo-onycho-cutaneous syndrome | LOC syndrome · LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome · Shabbir syndrome |
| fr | Syndrome laryngo-onycho-cutané | Granulations laryngées et oculaires chez les enfants indiens · Syndrome LOC · Syndrome LOGIC · Syndrome de Shabbir |
| de | Laryngo-onycho-kutanes Syndrom | LOC-Syndrom · LOGIC-Syndrom · Shabbir-Syndrom · Syndrom des laryngealen und okulären Granulationsgewebes bei Kindern des Indischen Subkontinents |
| es | Síndrome laringo-ónico-cutáneo | Síndrome LOC · Síndrome LOGIC · Síndrome de Shabbir · Síndrome de tejido de granulación laríngeo y ocular en niños del subcontinente indio |
| it | Sindrome LOC | Sindrome LOGIC · Sindrome del tessuto di granulazione oculare e laringeo nei bambini del subcontinente indiano · Sindrome di Shabbir |
| nl | Laryngo-onycho-cutaan syndroom | LOC-syndroom · LOGIC-syndroom · Syndroom van Shabbir · Syndroom van laryngeaal en oculair granulatieweefsel bij kinderen van het Indiase subcontinent |
| pt | Síndrome laringo-onico-cutâneo | Síndrome LOC · Síndrome LOGIC · Síndrome de tecido de granulação oculo-laringeo em crianças do subcontinente Indiano |
| pl | Zespół krtaniowo-paznokciowo-skórny | Zespół LOGIC · Zespół Shabbira · Zespół LOC |
| cs | LOC syndrom | LOGIC syndrom · Laryngoonychokutánní syndrom · Syndrom laryngeální a okulární granulační tkáně u dětí z Indického subkotinentu · Shabbirův syndrom |
| uk | Ларингооніхокутанний синдром | Грануляційна тканина гортані та очей у дітей із синдромом Індійського субконтиненту · LOC синдром · LOGIC синдром · Синдром Шаббіра |
| zh | LOC综合征 | 印度次大陆儿童喉和眼部肉芽组织综合征 |
| tr | LOC sendromu | LOGIC sendromu · Shabbir sendromu · Laringo-oniko-kutanöz sendrom · Hint Yarımadası çocuklarında laringeal ve oküler granülasyon dokusu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245660 | E | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0009513 | E | validated | |
| MeSH | C537032 | E | validated | |
| UMLS | C1328355 | E | validated | |
| MedDRA | 10062987 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:98610Rare disorder with conjunctival involvement as a major feature
rare ophthalmic disorders - ORPHA:522542Rare genetic disorder with conjunctival involvement as a major feature
rare genetic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMA3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6483 | ENSG00000053747 | 600805 | 18q11.2 | laminin subunit alpha 3 | 12915477[PMID]_23869449[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2025-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200042 | Skin ulcer | |
| HP:0001607 | Subglottic stenosis | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0100803 | Abnormality of the periungual region | |
| HP:0000670 | Carious teeth | |
| HP:0200020 | Corneal erosion | |
| HP:0012804 | Corneal ulceration | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0006297 | Enamel hypoplasia | |
| HP:6000956 | Exuberant granulation tissue | |
| HP:0001030 | Fragile skin | |
| HP:0001609 | Hoarse voice | |
| HP:0005348 | Inspiratory stridor | |
| HP:0000691 | Microdontia | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0200041 | Skin erosion | |
| HP:0430007 | Symblepharon | |
| Occasional (29-5%) | ||
| HP:0008777 | Abnormal vocal cord morphology | |
| HP:0000421 | Epistaxis | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 38328664[PMID]_34514630[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2407
- This record as JSON: /data/d/2407.json