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Geroderma osteodysplastica
1 OMIM reference -
2 associated genes
21 connected diseases
26 signs/symptoms
Disease Type of connection
Autosomal recessive cutis laxa type 2B
PYCR1-related DeBarsy syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
17q11 microdeletion syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Familial isolated dilated cardiomyopathy
Hypoplastic left heart syndrome
Muscular dystrophy, Selcen type
Oculodentodigital dysplasia
Pseudohypoaldosteronism type 2E
Syndactyly type 3
Young adult-onset Parkinsonism
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):
- Walt Disney dwarfism
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 -
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 -
1 MeSH reference: C537799
Gene symbol UniProt reference OMIM reference
GORAB Q5T7V8607983
PYCR1 P32322179035
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