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SSMS
MCID: SZR028
MIFTS: 34
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Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (SSMS)
Categories:
Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:
Name: Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome
57
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy onset of seizures between 2 and 5 years four sibs from the old order mennonite community has been reported (last curated december 2015) HPO:32
seizures, scoliosis, and macrocephaly/microcephaly syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases |
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OMIM
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57
Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019). (616682)
MalaCards based summary : Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, also known as seizures, scoliosis, and macrocephaly syndrome, is related to superficial spreading melanoma and atrial standstill 1. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, skin and breast, and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 74 Seizures, scoliosis, and macrocephaly syndrome: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. |
Diseases related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 23)
Graphical network of the top 20 diseases related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:
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Human phenotypes related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:32 (show all 15)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616682 |
Interventional clinical trials:
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MalaCards organs/tissues related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:41
Bone,
Skin,
Breast,
Brain,
Liver,
Heart,
Spleen
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Articles related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:(show top 50) (show all 247)
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Genes related to Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome:74
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Search
GEO
for disease gene expression data for Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome.
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