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STROMS
MCID: STR094
MIFTS: 45
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Stromme Syndrome (STROMS)
Categories:
Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Stromme Syndrome:
Characteristics:Orphanet epidemiological data:58
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype onset in utero early childhood lethality may occur HPO:31
stromme syndrome:
Onset and clinical course stillbirth congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Gastrointestinal diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis External Ids:
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OMIM® :
57
Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). (243605) (Updated 05-Mar-2021)
MalaCards based summary : Stromme Syndrome, also known as jejunal atresia with microcephaly and ocular anomalies, is related to microcephaly and jejunal atresia. An important gene associated with Stromme Syndrome is CENPF (Centromere Protein F), and among its related pathways/superpathways are Cell Cycle, Mitotic and Signaling by Rho GTPases. Affiliated tissues include eye, brain and fetal brain, and related phenotypes are accessory spleen and preaxial polydactyly Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has material basis in compound heterozygous mutation in the CENPF gene on chromosome 1q41. KEGG : 36 Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. Although ocular anomalies and intestinal atresia seemed to be consistent features of the syndromic phenotype, phenotypic variabilities in the patients have been reported. UniProtKB/Swiss-Prot : 73 Stromme syndrome: An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases. Wikipedia : 74 Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal... more... |
Diseases related to Stromme Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to Stromme Syndrome:
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Human phenotypes related to Stromme Syndrome:31 (show all 30)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:243605 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Stromme Syndrome according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Stromme Syndrome:40
Eye,
Brain,
Fetal Brain,
Spleen
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Articles related to Stromme Syndrome:(show all 12)
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Genes related to Stromme Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Stromme Syndrome:6 (show all 14)
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Search
GEO
for disease gene expression data for Stromme Syndrome.
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Pathways related to Stromme Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Stromme Syndrome according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Stromme Syndrome according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Stromme Syndrome according to GeneCards Suite gene sharing:
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