MCID: MYT024
MIFTS: 16

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 54
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome 56
Richieri Costa Da Silva Syndrome 69
Richieri Costa-Da Silva Syndrome 56

Characteristics:

OMIM:

54
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 54 255710
Orphanet 56 ORPHA3101
MESH via Orphanet 43 C535675
UMLS via Orphanet 70 C2930978
ICD10 via Orphanet 34 Q87.8

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 short stature, kyphoscoliosis and pectus carinatum. 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:

id Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 12.4

Symptoms & Phenotypes for Myotonia with Skeletal Abnormalities and Mental Retardation

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Chest- External Features:
bell-shaped chest

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

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

Skeletal- Limbs:
genu valgum
irregular femoral epiphyses

Muscle Soft Tissue:
muscular hypertrophy
firm muscles


Clinical features from OMIM:

255710

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

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

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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