MCID: MYT024
MIFTS: 18

Myotonia with Skeletal Abnormalities and Mental Retardation

Categories: Mental diseases, Bone diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards integrated aliases for Myotonia with Skeletal Abnormalities and Mental Retardation:

Name: Myotonia with Skeletal Abnormalities and Mental Retardation 53
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome 55
Richieri Costa Da Silva Syndrome 69
Richieri Costa-Da Silva Syndrome 55

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset 5-7 years


HPO:

31
myotonia with skeletal abnormalities and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 255710
Orphanet 55 ORPHA3101
MESH via Orphanet 42 C535675
UMLS via Orphanet 70 C2930978
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1850654
UMLS 69 C2930978

Summaries for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards based summary : Myotonia with Skeletal Abnormalities and Mental Retardation, also known as myotonia-intellectual disability-skeletal anomalies syndrome, is related to richieri costa da silva syndrome, and has symptoms including genu valgum, pectus carinatum and short stature. Affiliated tissues include bone and skeletal muscle.

Description from OMIM: 255710

Related Diseases for Myotonia with Skeletal Abnormalities and Mental Retardation

Diseases related to Myotonia with Skeletal Abnormalities and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 11.4

Symptoms & Phenotypes for Myotonia with Skeletal Abnormalities and Mental Retardation

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
genu valgum
irregular femoral epiphyses

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis
short vertebrae (thoracolumbar)
wedge-shaped vertebrae

Chest External Features:
bell-shaped chest

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum

Neurologic Central Nervous System:
myotonia
mental retardation, mild-moderate
rigid gait
progressive impairment of gait

Muscle Soft Tissue:
firm muscles
muscular hypertrophy


Clinical features from OMIM:

255710

Human phenotypes related to Myotonia with Skeletal Abnormalities and Mental Retardation:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 genu valgum 31 HP:0002857
2 pectus carinatum 31 HP:0000768
3 short stature 31 HP:0004322
4 intellectual disability, mild 31 HP:0001256
5 myotonia 31 HP:0002486
6 vertebral wedging 31 HP:0008422
7 skeletal muscle hypertrophy 31 HP:0003712
8 kyphoscoliosis 31 HP:0002751
9 bell-shaped thorax 31 HP:0001591
10 firm muscles 31 HP:0003725
11 irregular femoral epiphysis 31 HP:0006361

Drugs & Therapeutics for Myotonia with Skeletal Abnormalities and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Myotonia with Skeletal Abnormalities and Mental Retardation

Genetic Tests for Myotonia with Skeletal Abnormalities and Mental Retardation

Anatomical Context for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards organs/tissues related to Myotonia with Skeletal Abnormalities and Mental Retardation:

38
Bone, Skeletal Muscle

Publications for Myotonia with Skeletal Abnormalities and Mental Retardation

Variations for Myotonia with Skeletal Abnormalities and Mental Retardation

Expression for Myotonia with Skeletal Abnormalities and Mental Retardation

Search GEO for disease gene expression data for Myotonia with Skeletal Abnormalities and Mental Retardation.

Pathways for Myotonia with Skeletal Abnormalities and Mental Retardation

GO Terms for Myotonia with Skeletal Abnormalities and Mental Retardation

Sources for Myotonia with Skeletal Abnormalities and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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