|
SRS3
MCID: SLV028
MIFTS: 28
|
Silver-Russell Syndrome 3 (SRS3)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Silver-Russell Syndrome 3:
Name: Silver-Russell Syndrome 3
56
Characteristics:OMIM:56
Inheritance:
autosomal dominant (from paternal allele)
Miscellaneous:
clinical features present only if mutation inherited on paternal allele based on report of 4 patients from 1 family (last curated july 2015) 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 |
|
OMIM :
56
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)
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 Sodium Potassium Chloride Symporter Inhibitors 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 Growth restriction, severe, with distinctive facies: A disease characterized by severe prenatal and postnatal growth restriction, facial dysmorphism, and short stature in the presence of normal or slightly elevated growth hormone levels. |
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:
|
Human phenotypes related to Silver-Russell Syndrome 3:31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616489 |
Drugs for Silver-Russell Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
|
MalaCards organs/tissues related to Silver-Russell Syndrome 3:40
Bone
|
Articles related to Silver-Russell Syndrome 3:(show all 21)
|
ClinVar genetic disease variations for Silver-Russell Syndrome 3:6
|
|
Search
GEO
for disease gene expression data for Silver-Russell Syndrome 3.
|
|
|
|