MCID: NTV001
MIFTS: 42

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 54 12 50 24 56 71 29 42 14 69
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 50 56
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 24 71
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 50
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 50
Nam 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
native american myopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Native American Myopathy

NIH Rare Diseases : 50 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 necrotizing autoimmune myopathy and myopathy, and has symptoms including short stature, hyporeflexia and ventriculomegaly. 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.

OMIM : 54
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.

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:

54

Growth- Height:
short stature

Skeletal:
joint contractures

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

Abdomen- Gastroin testinal:
poor feeding

Skeletal- Spine:
kyphoscoliosis

Muscle Soft Tissue:
muscle wasting
muscle weakness, congenital

Metabolic Features:
malignant hyperthermia

Respiratory:
restrictive respiratory insufficiency

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

Neurologic- Peripheral Nervous System:
hyporeflexia

Head And Neck- Ears:
low-set ears

Head And Neck- Face:
micrognathia
myopathic facies
oral hypotonia

Genitourinary- External Genitalia Male:
cryptorchidism

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

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

Skeletal- Feet:
talipes deformities


Clinical features from OMIM:

255995

Human phenotypes related to Native American Myopathy:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 hyporeflexia 32 HP:0001265
3 ventriculomegaly 32 occasional (7.5%) HP:0002119
4 ptosis 32 HP:0000508
5 low-set ears 32 HP:0000369
6 micrognathia 32 HP:0000347
7 cleft palate 32 HP:0000175
8 kyphoscoliosis 32 HP:0002751
9 myopathic facies 32 HP:0002058
10 muscle weakness 32 HP:0001324
11 cryptorchidism 32 HP:0000028
12 telecanthus 32 HP:0000506
13 intellectual disability 32 occasional (7.5%) HP:0001249
14 feeding difficulties 32 HP:0011968
15 downslanted palpebral fissures 32 HP:0000494
16 high palate 32 HP:0000218
17 blepharophimosis 32 HP:0000581
18 downturned corners of mouth 32 HP:0002714
19 malignant hyperthermia 32 HP:0002047
20 talipes 32 HP:0001883
21 short palpebral fissure 32 HP:0012745
22 flexion contracture 32 HP:0001371
23 skeletal muscle atrophy 32 HP:0003202
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 STAC3 CACNA1S RYR1
4 respiratory system MP:0005388 8.96 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:

71
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 calcium ion transport GO:0006816 9.32 CACNA1S RYR1
2 calcium ion transmembrane transport GO:0070588 9.26 CACNA1S RYR1
3 muscle contraction GO:0006936 9.16 CACNA1S RYR1
4 skeletal muscle fiber development GO:0048741 8.96 RYR1 STAC3
5 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 calmodulin binding GO:0005516 8.85 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
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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