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SRS3
MCID: SLV028
MIFTS: 32
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Silver-Russell Syndrome 3 (SRS3)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Silver-Russell Syndrome 3:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability clinical features present only if mutation inherited on paternal allele body asymmetry is observed in some patients
Inheritance:
autosomal dominant (from paternal allele) HPO:31
silver-russell syndrome 3:
Inheritance autosomal dominant inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases Gastrointestinal diseases |
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OMIM® :
57
Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017).
For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). (616489) (Updated 05-Mar-2021)
MalaCards based summary : Silver-Russell Syndrome 3, also known as growth restriction, severe, with distinctive facies, is related to melanoma and toxoplasmosis. An important gene associated with Silver-Russell Syndrome 3 is IGF2 (Insulin Like Growth Factor 2). The drugs Furosemide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are cryptorchidism and patent ductus arteriosus UniProtKB/Swiss-Prot : 73 Silver-Russell syndrome 3: A form of 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. SRS3 inheritance is autosomal dominant. |
Diseases in the Silver-Russell Syndrome 1 family:Diseases related to Silver-Russell Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Silver-Russell Syndrome 3:
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Human phenotypes related to Silver-Russell Syndrome 3:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616489 (Updated 05-Mar-2021) |
Drugs for Silver-Russell Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Silver-Russell Syndrome 3:40
Bone
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Articles related to Silver-Russell Syndrome 3:(show all 21)
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Genes related to Silver-Russell Syndrome 3 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Silver-Russell Syndrome 3:6
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Search
GEO
for disease gene expression data for Silver-Russell Syndrome 3.
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Molecular functions related to Silver-Russell Syndrome 3 according to GeneCards Suite gene sharing:
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