Cytoscape Web
Click node...

Distal monosomy 12p
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Papillary or follicular thyroid carcinoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Giant cell glioblastoma
Gliosarcoma
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Burkitt lymphoma
Combined immunodeficiency due to STK4 deficiency
Precursor T-cell acute lymphoblastic leukemia
Cone rod dystrophy
Pseudohypoaldosteronism type 2E
X-linked lymphoproliferative disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- 12p13.33 microdeletion syndrome
- Del(12)(p13.33)
- Distal deletion 12p
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ERC1 Q8IUD2607127
No signs/symptoms info available.