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ZTTKS
MCID: ZTT001
MIFTS: 38
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Zttk Syndrome (ZTTKS)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Zttk Syndrome:
Characteristics:Inheritance:
Zttk Syndrome:
Autosomal dominant 57
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome:
Autosomal dominant 58
Prevelance:
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome:
Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. MalaCards based summary: Zttk Syndrome, also known as zhu-tokita-takenouchi-kim syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and duodenal atresia. An important gene associated with Zttk Syndrome is SON (SON DNA And RNA Binding Protein). Affiliated tissues include brain, cortex and heart, and related phenotypes are global developmental delay and intellectual disability, severe OMIM®: 57 ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016). (617140) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations. Wikipedia: 75 ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic... more... |
Diseases related to Zttk Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of the top 20 diseases related to Zttk Syndrome:
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Human phenotypes related to Zttk Syndrome:58 30 (show top 50) (show all 135)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617140 (Updated 08-Dec-2022) |
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Organs/tissues related to Zttk Syndrome:
MalaCards :
Brain,
Cortex,
Heart,
Eye,
Kidney,
Lung,
Skin
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Articles related to Zttk Syndrome:(show all 19)
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Genes related to Zttk Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Zttk Syndrome:5 (show top 50) (show all 89)
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