MCID: NTV001
MIFTS: 40

Native American Myopathy

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

Aliases & Classifications for Native American Myopathy

MalaCards integrated aliases for Native American Myopathy:

Name: Native American Myopathy 53 12 49 55 71 28 41 14 69
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 49 55
Nam 53 71
Myopathy, Congenital, with Cleft Palate and Malignant Hyperthermia 53
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 71
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 49
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 49

Characteristics:

Orphanet epidemiological data:

55
native american myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
native american myopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Native American Myopathy

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168572Disease definitionNative American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.EpidemiologyNAM is reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence of NAM is estimated at approximately 1:5,000.EtiologyThe NAM locus has been localized to 12q13.13-14.1.Genetic counselingThe disease is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources. Last updated: 2/19/2009

MalaCards based summary : Native American Myopathy, also known as congenital myopathy-cleft palate-malignant hyperthermia syndrome, is related to malignant hyperthermia and necrotizing autoimmune 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 Presenilin-Mediated Signaling and Netrin Signaling. Affiliated tissues include testes and skeletal muscle.

OMIM : 53 Native American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina (summary by Stamm et al., 2008). (255995)

UniProtKB/Swiss-Prot : 71 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.

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.

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 via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Head And Neck Face:
micrognathia
myopathic facies
oral hypotonia

Neurologic Peripheral Nervous System:
hyporeflexia

Skeletal Spine:
kyphoscoliosis

Abdomen Gastroin testinal:
poor feeding

Neurologic Central Nervous System:
mental retardation (rare)
enlarged ventricles (in some)

Skeletal Feet:
talipes deformities

Head And Neck Eyes:
ptosis
telecanthus
downslanting palpebral fissures
short palpebral fissures

Head And Neck Mouth:
cleft palate
high-arched palate
downturned mouth

Genitourinary External Genitalia Male:
cryptorchidism

Metabolic Features:
malignant hyperthermia

Muscle Soft Tissue:
muscle wasting
muscle weakness, congenital

Skeletal:
joint contractures

Respiratory:
restrictive respiratory insufficiency

Laboratory Abnormalities:
serum creatine kinase may be increased
increased prevalence among the native american lumbee indians


Clinical features from OMIM:

255995

Human phenotypes related to Native American Myopathy:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 low-set ears 31 HP:0000369
3 high palate 31 HP:0000218
4 ptosis 31 HP:0000508
5 intellectual disability 31 occasional (7.5%) HP:0001249
6 short stature 31 HP:0004322
7 flexion contracture 31 HP:0001371
8 skeletal muscle atrophy 31 HP:0003202
9 cleft palate 31 HP:0000175
10 micrognathia 31 HP:0000347
11 feeding difficulties 31 HP:0011968
12 cryptorchidism 31 HP:0000028
13 ventriculomegaly 31 occasional (7.5%) HP:0002119
14 telecanthus 31 HP:0000506
15 downslanted palpebral fissures 31 HP:0000494
16 downturned corners of mouth 31 HP:0002714
17 blepharophimosis 31 HP:0000581
18 hyporeflexia 31 HP:0001265
19 malignant hyperthermia 31 HP:0002047
20 talipes 31 HP:0001883
21 myopathic facies 31 HP:0002058
22 kyphoscoliosis 31 HP:0002751
23 short palpebral fissure 31 HP:0012745
24 restrictive deficit on pulmonary function testing 31 HP:0002111
25 multiple skeletal anomalies 31 HP:0005775

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:

# Genetic test Affiliating Genes
1 Native American Myopathy 28 STAC3

Anatomical Context for Native American Myopathy

MalaCards organs/tissues related to Native American Myopathy:

38
Testes, Skeletal Muscle

Publications for Native American Myopathy

Articles related to Native American Myopathy:

# 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:

71
# Symbol AA change Variation ID SNP ID
1 STAC3 p.Trp284Ser VAR_071313 rs140291094

ClinVar genetic disease variations for Native American Myopathy:

6
# 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:

# Super pathways Score Top Affiliating Genes
1 11.31 CACNA1S RYR1
2 10.65 CACNA1S RYR1
3 9.7 CACNA1S RYR1

GO Terms for Native American Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel complex GO:0005891 9.16 CACNA1S STAC3
2 I band GO:0031674 8.96 CACNA1S RYR1
3 T-tubule GO:0030315 8.8 CACNA1S RYR1 STAC

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

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.5 STAC STAC2 STAC3
2 calcium ion transport GO:0006816 9.4 CACNA1S RYR1
3 calcium ion transmembrane transport GO:0070588 9.37 CACNA1S RYR1
4 positive regulation of protein localization to plasma membrane GO:1903078 9.26 STAC STAC3
5 skeletal muscle fiber development GO:0048741 9.16 RYR1 STAC3
6 muscle contraction GO:0006936 9.13 CACNA1S RYR1 STAC
7 cellular response to caffeine GO:0071313 8.62 CACNA1S RYR1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.55 CACNA1S RYR1 STAC STAC2 STAC3
2 calcium channel activity GO:0005262 8.96 CACNA1S RYR1
3 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
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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