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SRS1
MCID: SLV027
MIFTS: 53
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Silver-Russell Syndrome 1 (SRS1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Silver-Russell Syndrome 1:
Name: Silver-Russell Syndrome 1
56
Characteristics:Orphanet epidemiological data:58
silver-russell syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy; OMIM:56
Miscellaneous:
imprinted disorder marked heterogeneity majority cases are sporadic chromosome rearrangements have been reported maternal uniparental disomy (upd)7 reported in some cases
Inheritance:
autosomal dominant (loss of paternal allele) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop recurrent episodes of low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected men is about 151 centimeters (4 feet, 11 inches) and the average height for affected women is about 140 centimeters (4 feet, 7 inches).
Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.
MalaCards based summary : Silver-Russell Syndrome 1, also known as silver-russell syndrome, is related to silver-russell syndrome due to an imprinting defect of 11p15 and silver-russell syndrome due to a point mutation. An important gene associated with Silver-Russell Syndrome 1 is IGF2 (Insulin Like Growth Factor 2). The drugs Anastrozole and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and eye, and related phenotypes are short stature and prominent forehead Disease Ontology : 12 A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. NIH Rare Diseases : 52 Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth. Signs and symptoms vary and may include low birth weight, short stature , characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly (curved finger), digestive system abnormalities, delayed development, and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically . In rare cases, RSS may be inherited in an autosomal dominant or autosomal recessive manner. Because RSS can lead to a wide variety of physical abnormalities and health problems, treatment ideally should be managed by a team of specialists with knowledge of RSS. Early intervention is recommended to help children with RSS reach their full potential. OMIM : 56 Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009). (180860) KEGG : 36 Russell-Silver syndrome (RSS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. SRS is associated with genetic or epigenetic mutations that affect two different chromosomes. In addition to maternal uniparental disomy of chromosome 7, hypomethylation of the imprinting control region 1 (ICR1) in 11p15 and maternal duplication of 11p15 have recently been described as major epigenetic disturbances in SRS. The ICR1 regulates expression of the paternally expressed IGF2 and the maternally expressed H19. The H19 gene encodes a 2.3-kb non-coding mRNA, which is strongly expressed during embryogenesis and possibly functions as a microRNA. It has been proposed that H19 hypomethylation leads to biallelic expression of this gene and downregulation of IGF2 expression resulting in growth retardation. UniProtKB/Swiss-Prot : 73 Silver-Russell syndrome: A clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Wikipedia : 74 Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism, is a rare congenital growth... more...
GeneReviews:
NBK1324
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Human phenotypes related to Silver-Russell Syndrome 1:58 31 (show top 50) (show all 72)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:180860 |
Drugs for Silver-Russell Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 13)
Interventional clinical trials:
Cochrane evidence based reviews: silver-russell syndrome |
MalaCards organs/tissues related to Silver-Russell Syndrome 1:40
Testes,
Bone,
Eye,
Placenta,
Brain,
Cerebellum,
Heart
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Articles related to Silver-Russell Syndrome 1:(show top 50) (show all 524)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Silver-Russell Syndrome 1:6
Copy number variations for Silver-Russell Syndrome 1 from CNVD:7
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Search
GEO
for disease gene expression data for Silver-Russell Syndrome 1.
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Biological processes related to Silver-Russell Syndrome 1 according to GeneCards Suite gene sharing:
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