Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Synonyms: Bone fragility-contractures-arterial rupture-deafness syndrome · Bone fragility-contractures-arterial rupture-hearing loss syndrome · Connective tissue disorder due to LH3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Bone fragility-contractures-arterial rupture-deafness syndrome · Bone fragility-contractures-arterial rupture-hearing loss syndrome · Connective tissue disorder due to LH3 deficiency |
| fr | Maladie du tissu conjonctif par déficit en lysyl hydroxylase-3 | Maladie du tissu conjonctif par déficit en LH3 · Syndrome de fragilité osseuse-contractures-rupture artérielle-surdité |
| de | Bindegewebskrankheit durch Lysyl-Hydroxylase 3-Mangel | Bindegewebskrankheit durch LH3-Mangel · Knochenfragilität-Kontrakturen-Arterienruptur-Schwerhörigkeit-Syndrom |
| es | Enfermedad del tejido conectivo por deficiencia de lisil hidroxilasa-3 | Enfermedad del tejido conectivo por deficiencia de LH3 · Síndrome de fragilidad ósea-contracturas-ruptura arterial-hipoacusia · Síndrome de fragilidad ósea-contracturas-ruptura arterial-sordera |
| it | Malattia del tessuto connettivo da deficit di lisil idrossilasi-3 | Malattia del tessuto connettivo da deficit di LH3 · Sindrome fragilità ossea-contratture-rottura arteriosa-sordità |
| nl | Aandoening van bindweefsel door lysylhydroxylase 3-deficiëntie | Aandoening van bindweefsel door LH3-deficiëntie · Botfragiliteit - contracturen - ruptuur van arterie - doofheid-syndroom · Botfragiliteit - contracturen - ruptuur van arterie - gehoorverlies-syndroom |
| pt | Doença do tecido conjuntivo por deficiência de lisil 3-hidroxilase | Conectivopatia devido a deficiência LH3 · Síndrome de fragilidade óssea-contraturas-ruptura arterial-perda auditiva · Síndrome de fragilidade óssea-contraturas-ruptura arterial-surdez |
| pl | Choroba tkanki łącznej z powodu niedoboru hydroksylazy-3 lizylowej | Choroba tkanki łącznej z powodu niedoboru LH3 · Zespół kruchość kości-przykurcze-pęknięcie tętnicy-głuchota |
| cs | Poruchy pojivové tkáně způsobené nedostatkem lysyl-3-hydroxylázy | Syndrom kostní fragilita, kontraktury, arteriální ruptura a hluchota · Porucha pojivové tkáně způsobená nedostatkem LH3 |
| uk | Порушення сполучної тканини, зумовлене дефіцитом лізилгідроксилази-3 | Синдром ламкості кісток - контрактур - розривів артерій - глухоти · Синдром ламкості кісток - контрактур - розривів артерій - втрати слуху · Порушення сполучної тканини через дефіцит LH3 |
| zh | 赖氨酰羟化酶-3缺陷所致结缔组织紊乱 | 脆骨-关节挛缩-动脉破裂-听力损失综合征 |
| tr | Lizil hidroksilaz-3 eksikliğine bağlı bağ dokusu bozukluğu | LH3 eksikliğine bağlı bağ dokusu bozukluğu · Kemik kırılganlığı-kontraktürler-arteriyel yırtılma-sağırlık sendromu · Kemik kırılganlığı-kontraktürler-arteriyel yırtılma-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612394 | E | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A4Y | NTBT | attributed | validated |
| MONDO | 0012892 | E | validated | |
| UMLS | C4706393 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLOD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9083 | ENSG00000106397 | 603066 | 7q22.1 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | 18834968[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18834968[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 18834968[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300284
- This record as JSON: /data/d/300284.json