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Synpolydactyly type 2
1 OMIM reference -
1 associated gene
52 connected diseases
No signs/symptoms info
Disease Type of connection
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
Fibronectin glomerulopathy
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Lipoid proteinosis
Alobar holoprosencephaly
Alternating hemiplegia of childhood
Aneurysm - osteoarthritis syndrome
Apolipoprotein A-I deficiency
Benign paroxysmal torticollis of infancy
CADASIL
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Dentatorubral pallidoluysian atrophy
Duchenne muscular dystrophy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Familial renal amyloidosis due to Apolipoprotein AI variant
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Gray platelet syndrome
Infantile myofibromatosis
Isolated ectopia lentis
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Primary systemic amyloidosis
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Spinocerebellar ataxia type 6
Dyssegmental dysplasia, Silverman-Handmaker type
Familial osteochondritis dissecans
Schwartz-Jampel syndrome
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Wagner disease
Synonym(s):
- SD2, Debeer type
- SD2b
- SPD, Debeer type
- SPD2
- Synpolydactyly, Debeer type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FBLN1 P23142135820
No signs/symptoms info available.