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5q35 microduplication syndrome
1 associated gene
18 connected diseases
6 signs/symptoms
Disease Type of connection
Beckwith-Wiedemann syndrome due to NSD1 mutation
Sotos syndrome
Weaver syndrome
Peripheral resistance to thyroid hormones
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Acute promyelocytic leukemia
Estrogen resistance syndrome
Anaplastic ependymoma
Familial partial lipodystrophy associated with PPARG mutations
Generalized resistance to thyroid hormone
Giant cell glioblastoma
Gliosarcoma
Hypocalcemic vitamin D-resistant rickets
Precursor B-cell acute lymphoblastic leukemia
Selective pituitary resistance to thyroid hormone
Synonym(s):
- Dup(5)(q35)
- Trisomy 5q35
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NSD1 Q96L73606681
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Frequent
- Delayed bone age
- Myopia
- Psychic / behavioural troubles