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Koolen-De Vries syndrome due to a point mutation
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
17q21.31 microdeletion syndrome
Aneurysm - osteoarthritis syndrome
Familial infantile bilateral striatal necrosis
Familial thoracic aortic aneurysm and aortic dissection
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
KANSL1 Q7Z3B3612452
No signs/symptoms info available.