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STAR
MCID: TSY002
MIFTS: 56
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Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (STAR)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:
Characteristics:Inheritance:
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:
X-linked dominant 57
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome:
X-linked dominant 58
Prevelance:
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Eye diseases Reproductive diseases Nephrological diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD: 19 STAR syndrome is a very rare syndrome that affects many parts of the body. STAR is an acronym for the primary signs and symptoms of the syndrome: Syndactyly - webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome). Telecanthus - increased distance between the inner corners of the eyes. Anogenital malformations - abnormal formation of the anus and/or genitals. Renal malformations. However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a deletion affecting the FAM58A gene, also called the CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects. Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported. MalaCards based summary: Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations, also known as star syndrome, is related to lipoid congenital adrenal hyperplasia and polycystic ovary syndrome. An important gene associated with Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations is CCNQ (Cyclin Q), and among its related pathways/superpathways is GADD45 Pathway. Affiliated tissues include spinal cord, bone and kidney, and related phenotypes are short stature and anal atresia UniProtKB/Swiss-Prot: 73 A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. Orphanet: 58 A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Disease Ontology: 11 A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has material basis in heterozygous mutation in FAM58A on chromosome Xq28. Wikipedia: 75 STAR syndrome is a rare X-linked dominant disorder. Its core features include toe syndactyly,... more...
More information from OMIM:
300707
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Human phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:58 30 (show all 44)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:300707 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:25 (show all 44)
MGI Mouse Phenotypes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:45
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Cochrane evidence based reviews: toe syndactyly, telecanthus, and anogenital and renal malformations |
Organs/tissues related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:
MalaCards :
Spinal Cord,
Bone,
Kidney,
Uterus,
Testis,
Heart,
Ovary
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Articles related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:(show top 50) (show all 21423)
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Genes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (2 elite genes):(show all 21) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations:5
Copy number variations for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from CNVD:6
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Search
GEO
for disease gene expression data for Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations.
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Cellular components related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:
Biological processes related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:
Molecular functions related to Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations according to GeneCards Suite gene sharing:
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