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Mandibular hypoplasia-deafness-progeroid syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor T-cell acute lymphoblastic leukemia
Burkitt lymphoma
COFS syndrome
Chronic myeloid leukemia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Giant cell glioblastoma
Gliosarcoma
Monomelic amyotrophy
Pontocerebellar hypoplasia type 2
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Seckel syndrome
UV-sensitive syndrome
Young adult-onset Parkinsonism
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Synonym(s):
- MDP syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
POLD1 P28340174761
No signs/symptoms info available.