MCID: RCH003
MIFTS: 6

Richieri Costa Da Silva Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Richieri Costa Da Silva Syndrome

MalaCards integrated aliases for Richieri Costa Da Silva Syndrome:

Name: Richieri Costa Da Silva Syndrome 52 71
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome 52
Richieri Costa-Da Silva Syndrome 52

Classifications:



External Ids:

UMLS 71 C2930978

Summaries for Richieri Costa Da Silva Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3101 Definition Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature , skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984. Visit the Orphanet disease page for more resources.

MalaCards based summary : Richieri Costa Da Silva Syndrome, also known as myotonia-intellectual disability-skeletal anomalies syndrome, is related to myotonia with skeletal abnormalities and mental retardation. Affiliated tissues include bone.

Related Diseases for Richieri Costa Da Silva Syndrome

Diseases related to Richieri Costa Da Silva Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myotonia with skeletal abnormalities and mental retardation 11.9

Symptoms & Phenotypes for Richieri Costa Da Silva Syndrome

Drugs & Therapeutics for Richieri Costa Da Silva Syndrome

Search Clinical Trials , NIH Clinical Center for Richieri Costa Da Silva Syndrome

Genetic Tests for Richieri Costa Da Silva Syndrome

Anatomical Context for Richieri Costa Da Silva Syndrome

MalaCards organs/tissues related to Richieri Costa Da Silva Syndrome:

40
Bone

Publications for Richieri Costa Da Silva Syndrome

Variations for Richieri Costa Da Silva Syndrome

Expression for Richieri Costa Da Silva Syndrome

Search GEO for disease gene expression data for Richieri Costa Da Silva Syndrome.

Pathways for Richieri Costa Da Silva Syndrome

GO Terms for Richieri Costa Da Silva Syndrome

Sources for Richieri Costa Da Silva Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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