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Connective tissue disorder due to lysyl hydroxylase-3 deficiency
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Burkitt lymphoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Precursor T-cell acute lymphoblastic leukemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Chuvash erythrocytosis
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Von Hippel-Lindau disease
Acute fatty liver of pregnancy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant spastic paraplegia type 13
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Connective tissue disorder due to LH3 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PLOD3 O60568603066
No signs/symptoms info available.