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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
26 signs/symptoms
17q11 microdeletion syndrome
Geroderma osteodysplastica

NF1 GORAB
RNF135 PYCR1
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SUZ12
(0.63)
PYCR1



Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
Geroderma osteodysplastica
GORAB PYCR1



17q11 microdeletion syndrome
Geroderma osteodysplastica

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Synonym(s):
- Walt Disney dwarfism

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537799

Geroderma osteodysplastica

Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Loose skin / skin relaxation / excess skin / creases
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Thin skin

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypotonia
- Scoliosis

Occasional
- Anomalies of eyes and vision
- Epiphyseal anomaly
- Flat cheek bones / malar hypoplasia
- Flat foot
- Herniae
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcornea
- Pectus carinatum
- Platyspondyly
- Premature ageing
- Prognathism / prognathia
- Talipes-varus / metatarsal varus


17q11 microdeletion syndrome

(no data available)