NAM
MCID: NTV001
MIFTS: 40

Native American Myopathy (NAM) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Native American Myopathy

Aliases & Descriptions for Native American Myopathy:

Name: Native American Myopathy 54 12 50 24 56 66 29 42 14 69
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 50 56
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 24 66
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 50
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 50
Nam 66

Characteristics:

Orphanet epidemiological data:

56
native american myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
native american myopathy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 255995
Disease Ontology 12 DOID:0060346
Orphanet 56 ORPHA168572
MESH via Orphanet 43 C538343
UMLS via Orphanet 70 C1850625
ICD10 via Orphanet 34 G71.2
MedGen 40 C1850625
UMLS 69 C1850625

Summaries for Native American Myopathy

OMIM : 54 Native American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and... (255995) more...

MalaCards based summary : Native American Myopathy, also known as congenital myopathy-cleft palate-malignant hyperthermia syndrome, is related to immune-mediated necrotizing myopathy and myopathy, and has symptoms including muscle weakness, low-set ears and high palate. An important gene associated with Native American Myopathy is STAC3 (SH3 And Cysteine Rich Domain 3), and among its related pathways/superpathways are CREB Pathway and Calcium signaling pathway. Affiliated tissues include testes and skeletal muscle, and related phenotypes are craniofacial and digestive/alimentary

Disease Ontology : 12 A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 66 Native American myopathy: A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.

Related Diseases for Native American Myopathy

Graphical network of the top 20 diseases related to Native American Myopathy:



Diseases related to Native American Myopathy

Symptoms & Phenotypes for Native American Myopathy

Symptoms by clinical synopsis from OMIM:

255995

Clinical features from OMIM:

255995

Human phenotypes related to Native American Myopathy:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 ptosis 32 HP:0000508
5 intellectual disability 32 HP:0001249
6 short stature 32 HP:0004322
7 flexion contracture 32 HP:0001371
8 skeletal muscle atrophy 32 HP:0003202
9 cleft palate 32 HP:0000175
10 micrognathia 32 HP:0000347
11 feeding difficulties 32 HP:0011968
12 cryptorchidism 32 HP:0000028
13 ventriculomegaly 32 HP:0002119
14 telecanthus 32 HP:0000506
15 downslanted palpebral fissures 32 HP:0000494
16 downturned corners of mouth 32 HP:0002714
17 blepharophimosis 32 HP:0000581
18 hyporeflexia 32 HP:0001265
19 malignant hyperthermia 32 HP:0002047
20 talipes 32 HP:0001883
21 myopathic facies 32 HP:0002058
22 kyphoscoliosis 32 HP:0002751
23 short palpebral fissure 32 HP:0012745
24 restrictive deficit on pulmonary function testing 32 HP:0002111
25 multiple skeletal anomalies 32 HP:0005775

MGI Mouse Phenotypes related to Native American Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 CACNA1S RYR1 STAC3
2 digestive/alimentary MP:0005381 9.43 CACNA1S RYR1 STAC3
3 limbs/digits/tail MP:0005371 9.33 CACNA1S RYR1 STAC3
4 muscle MP:0005369 9.13 CACNA1S RYR1 STAC3
5 skeleton MP:0005390 8.92 CACNA1S QDPR RYR1 STAC3

Drugs & Therapeutics for Native American Myopathy

Search Clinical Trials , NIH Clinical Center for Native American Myopathy

Cochrane evidence based reviews: native american myopathy

Genetic Tests for Native American Myopathy

Genetic tests related to Native American Myopathy:

id Genetic test Affiliating Genes
1 Native American Myopathy 29 24

Anatomical Context for Native American Myopathy

MalaCards organs/tissues related to Native American Myopathy:

39
Testes, Skeletal Muscle

Publications for Native American Myopathy

Articles related to Native American Myopathy:

id Title Authors Year
1
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. ( 28411587 )
2017
2
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. ( 23736855 )
2013
3
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. ( 18553514 )
2008

Variations for Native American Myopathy

UniProtKB/Swiss-Prot genetic disease variations for Native American Myopathy:

66
id Symbol AA change Variation ID SNP ID
1 STAC3 p.Trp284Ser VAR_071313 rs140291094

ClinVar genetic disease variations for Native American Myopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STAC3 NM_145064.2(STAC3): c.851G> C (p.Trp284Ser) single nucleotide variant Pathogenic rs140291094 GRCh37 Chromosome 12, 57638105: 57638105

Expression for Native American Myopathy

Search GEO for disease gene expression data for Native American Myopathy.

Pathways for Native American Myopathy

Pathways related to Native American Myopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 CACNA1S QDPR RYR1
2
Show member pathways
11.53 CACNA1S RYR1
3 11.31 CACNA1S RYR1
4 10.65 CACNA1S RYR1
5 9.7 CACNA1S RYR1

GO Terms for Native American Myopathy

Cellular components related to Native American Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 8.96 CACNA1S RYR1
2 I band GO:0031674 8.62 CACNA1S RYR1

Biological processes related to Native American Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.37 CACNA1S RYR1
2 calcium ion transport GO:0006816 9.32 CACNA1S RYR1
3 calcium ion transmembrane transport GO:0070588 9.26 CACNA1S RYR1
4 muscle contraction GO:0006936 9.16 CACNA1S RYR1
5 skeletal muscle fiber development GO:0048741 8.96 RYR1 STAC3
6 cellular response to caffeine GO:0071313 8.62 CACNA1S RYR1

Molecular functions related to Native American Myopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.96 CACNA1S RYR1
2 voltage-gated calcium channel activity GO:0005245 8.62 CACNA1S RYR1

Sources for Native American Myopathy

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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