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Connective tissue disorder due to lysyl hydroxylase-3 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
B-cell chronic lymphocytic leukemia

PLOD3
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PLOD3
(0.63)
TP53


Citations in the biomedical literature:


Connective tissue disorder due to lysyl hydroxylase-3 deficiency
PLOD3
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



Connective tissue disorder due to lysyl hydroxylase-3 deficiency
B-cell chronic lymphocytic leukemia

Synonym(s):
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Connective tissue disorder due to LH3 deficiency
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
No signs/symptoms info available.