MCID: MYT024
MIFTS: 18

Myotonia with Skeletal Abnormalities and Mental Retardation

Categories: Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental 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 57
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome 59
Richieri Costa Da Silva Syndrome 73
Richieri Costa-Da Silva Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset 5-7 years


HPO:

32
myotonia with skeletal abnormalities and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 255710
Orphanet 59 ORPHA3101
MESH via Orphanet 45 C535675
UMLS via Orphanet 74 C2930978
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1850654
UMLS 73 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. Affiliated tissues include skeletal muscle and bone, and related phenotypes are pectus carinatum and intellectual disability, mild

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:

57
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 Ribs Sternum 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pectus carinatum 32 HP:0000768
2 intellectual disability, mild 32 HP:0001256
3 bell-shaped thorax 32 HP:0001591
4 myotonia 32 HP:0002486
5 kyphoscoliosis 32 HP:0002751
6 genu valgum 32 HP:0002857
7 skeletal muscle hypertrophy 32 HP:0003712
8 firm muscles 32 HP:0003725
9 short stature 32 HP:0004322
10 irregular femoral epiphysis 32 HP:0006361
11 vertebral wedging 32 HP:0008422

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:

41
Skeletal Muscle, Bone

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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