SYNS4
MCID: MLT166
MIFTS: 21
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Multiple Synostoses Syndrome 4 (SYNS4)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Multiple Synostoses Syndrome 4:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable age at onset of hearing loss, ranging from the first decade to the fifth decade of life Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases Smell/Taste diseases |
UniProtKB/Swiss-Prot: 73 A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. MalaCards based summary: Multiple Synostoses Syndrome 4, is also known as syns4. An important gene associated with Multiple Synostoses Syndrome 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone, and related phenotypes are brachydactyly and pes planus OMIM®: 57 Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). (617898) (Updated 08-Dec-2022) |
Diseases in the Multiple Synostoses Syndrome family:
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Human phenotypes related to Multiple Synostoses Syndrome 4:30 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617898 (Updated 08-Dec-2022) |
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Organs/tissues related to Multiple Synostoses Syndrome 4:
MalaCards :
Bone
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Articles related to Multiple Synostoses Syndrome 4:
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ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:5
UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 4:73
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Search
GEO
for disease gene expression data for Multiple Synostoses Syndrome 4.
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