SD1
MCID: CHR619
MIFTS: 62
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Chromosome 2q35 Duplication Syndrome (SD1)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:
Characteristics:Inheritance:
Chromosome 2q35 Duplication Syndrome:
Autosomal dominant 57
Syndactyly Type 1:
Autosomal dominant 58
Prevelance:
Syndactyly Type 1:
1-5/10000 (Europe, Europe) 58
Age Of Onset:
Syndactyly Type 1:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
incidence approximately 2-3/10,000 newborns minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
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Orphanet 58 Non-syndromic syndactyly: A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type. Syndactyly type 1: A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. MalaCards based summary: Chromosome 2q35 Duplication Syndrome, also known as syndactyly, is related to syndactyly, type iii and syndactyly, type iv. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways are Osteoblast differentiation and related diseases and Hedgehog signaling pathway. The drugs Clonidine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are finger syndactyly and toe syndactyly GARD: 19 Syndactyly type 1 is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Syndactyly type 1 is the most common type of non-syndromic syndactyly. Individuals with Syndactyly type 1 have webbing of the third and fourth fingers and/or between the second and third toes. Other digits may be involved, as well as the underlying bones. Disease Ontology 11 Syndactyly type 1: A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has material basis in heterozygous duplication of a region of chromosome 2q34-q36. Syndactyly: A synostosis that results in the fusion of two or more digits. Wikipedia: 75 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...
More information from OMIM:
185900
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Human phenotypes related to Chromosome 2q35 Duplication Syndrome:58 30 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:185900 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:45 (show all 19)
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Drugs for Chromosome 2q35 Duplication Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Cochrane evidence based reviews: syndactyly |
Organs/tissues related to Chromosome 2q35 Duplication Syndrome:
MalaCards :
Bone,
Skin,
Eye,
Heart,
Brain,
Kidney,
Temporal Lobe
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Articles related to Chromosome 2q35 Duplication Syndrome:(show top 50) (show all 2656)
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ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:5 (show top 50) (show all 84)
Copy number variations for Chromosome 2q35 Duplication Syndrome from CNVD:6
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Search
GEO
for disease gene expression data for Chromosome 2q35 Duplication Syndrome.
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Cellular components related to Chromosome 2q35 Duplication Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Chromosome 2q35 Duplication Syndrome according to GeneCards Suite gene sharing:(show all 11)
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