NAM
MCID: MYP151
MIFTS: 43

Myopathy, Congenital, Bailey-Bloch (NAM)

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

Aliases & Classifications for Myopathy, Congenital, Bailey-Bloch

MalaCards integrated aliases for Myopathy, Congenital, Bailey-Bloch:

Name: Myopathy, Congenital, Bailey-Bloch 57
Native American Myopathy 57 12 53 59 75 37 29 6 44 15
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 53 59
Nam 57 75
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 57
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 75
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 53
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 53
Myopathy, Congenital, Baily-Bloch 57
Native American Myopathy; Nam 57
Mypbb 57

Characteristics:

Orphanet epidemiological data:

59
native american myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
myopathy, congenital, bailey-bloch:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Congenital, Bailey-Bloch

NIH Rare Diseases : 53 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.

MalaCards based summary : Myopathy, Congenital, Bailey-Bloch, also known as native american myopathy, is related to malignant hyperthermia and necrotizing autoimmune myopathy. An important gene associated with Myopathy, Congenital, Bailey-Bloch 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, skeletal muscle and skin, and related phenotypes are low-set ears and high palate

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 : 57 Bailey-Bloch congenital myopathy, also known as 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 : 75 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 Myopathy, Congenital, Bailey-Bloch

Diseases related to Myopathy, Congenital, Bailey-Bloch via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 29.1 CACNA1S QDPR RYR1 STAC3
2 necrotizing autoimmune myopathy 12.0
3 japanese encephalitis 10.1
4 encephalitis 10.1
5 myopathy 10.1
6 horns in sheep 10.1
7 cleft lip 10.1
8 cleft lip/palate 10.1
9 malaria 10.0
10 typhoid fever 10.0
11 influenza 10.0
12 hepatitis 10.0
13 hepatitis b 10.0
14 primary amebic meningoencephalitis 10.0
15 paragonimiasis 10.0
16 tetanus 10.0
17 tetanus neonatorum 10.0
18 multidrug-resistant tuberculosis 10.0
19 avian influenza 10.0
20 desmoplastic infantile astrocytoma 10.0
21 cleft palate, isolated 9.9
22 myopathy, congenital 9.9
23 malignant hyperthermia of anesthesia 9.8 CACNA1S RYR1
24 myopathy, tubular aggregate, 1 9.8 QDPR RYR1
25 central core disease of muscle 9.8 CACNA1S RYR1
26 alcohol dependence 9.8
27 stroke, ischemic 9.8
28 mycobacterium tuberculosis 1 9.8
29 human immunodeficiency virus type 1 9.8
30 dengue hemorrhagic fever 9.8
31 liver disease 9.8
32 skin disease 9.8
33 adiaspiromycosis 9.8
34 cysticercosis 9.8
35 hand, foot and mouth disease 9.8
36 rabies 9.8
37 trachoma 9.8
38 diphtheria 9.8
39 dysentery 9.8
40 shigellosis 9.8
41 plasmodium ovale malaria 9.8
42 scrub typhus 9.8
43 opisthorchiasis 9.8
44 cholera 9.8
45 disease of mental health 9.8
46 cholecystitis 9.8
47 acalculous cholecystitis 9.8
48 pulmonary tuberculosis 9.8
49 mouth disease 9.8
50 neurotic disorder 9.8

Graphical network of the top 20 diseases related to Myopathy, Congenital, Bailey-Bloch:



Diseases related to Myopathy, Congenital, Bailey-Bloch

Symptoms & Phenotypes for Myopathy, Congenital, Bailey-Bloch

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, conductive

Growth Height:
short stature

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

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Peripheral Nervous System:
hyporeflexia

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

Abdomen Gastrointestinal:
poor feeding

Growth Other:
poor overall growth

Skeletal Feet:
talipes deformities

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

Head And Neck Head:
brachycephaly
small head circumference

Head And Neck Face:
micrognathia
myopathic facies
midface hypoplasia
oral hypotonia

Metabolic Features:
malignant hyperthermia

Skeletal Spine:
kyphoscoliosis

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 Myopathy, Congenital, Bailey-Bloch:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 high palate 32 HP:0000218
3 ptosis 32 HP:0000508
4 intellectual disability 32 occasional (7.5%) HP:0001249
5 muscle weakness 32 HP:0001324
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 occasional (7.5%) HP:0002119
14 malignant hyperthermia 32 HP:0002047
15 telecanthus 32 HP:0000506
16 downslanted palpebral fissures 32 HP:0000494
17 downturned corners of mouth 32 HP:0002714
18 blepharophimosis 32 HP:0000581
19 hyporeflexia 32 HP:0001265
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

Drugs & Therapeutics for Myopathy, Congenital, Bailey-Bloch

Search Clinical Trials , NIH Clinical Center for Myopathy, Congenital, Bailey-Bloch

Cochrane evidence based reviews: native american myopathy

Genetic Tests for Myopathy, Congenital, Bailey-Bloch

Genetic tests related to Myopathy, Congenital, Bailey-Bloch:

# Genetic test Affiliating Genes
1 Native American Myopathy 29 STAC3

Anatomical Context for Myopathy, Congenital, Bailey-Bloch

MalaCards organs/tissues related to Myopathy, Congenital, Bailey-Bloch:

41
Testes, Skeletal Muscle, Skin, Liver

Publications for Myopathy, Congenital, Bailey-Bloch

Articles related to Myopathy, Congenital, Bailey-Bloch:

# 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 Myopathy, Congenital, Bailey-Bloch

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Congenital, Bailey-Bloch:

75
# Symbol AA change Variation ID SNP ID
1 STAC3 p.Trp284Ser VAR_071313 rs140291094

ClinVar genetic disease variations for Myopathy, Congenital, Bailey-Bloch:

6 (show top 50) (show all 56)
# 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
2 STAC3 NM_145064.2(STAC3): c.851G> C (p.Trp284Ser) single nucleotide variant Pathogenic rs140291094 GRCh38 Chromosome 12, 57244322: 57244322
3 STAC3 NM_145064.2(STAC3): c.1086G> A (p.Glu362=) single nucleotide variant Benign rs61739642 GRCh38 Chromosome 12, 57243821: 57243821
4 STAC3 NM_145064.2(STAC3): c.1086G> A (p.Glu362=) single nucleotide variant Benign rs61739642 GRCh37 Chromosome 12, 57637604: 57637604
5 STAC3 NM_145064.2(STAC3): c.1023G> C (p.Ala341=) single nucleotide variant Benign/Likely benign rs61747067 GRCh37 Chromosome 12, 57637667: 57637667
6 STAC3 NM_145064.2(STAC3): c.1023G> C (p.Ala341=) single nucleotide variant Benign/Likely benign rs61747067 GRCh38 Chromosome 12, 57243884: 57243884
7 STAC3 NM_145064.2(STAC3): c.842A> G (p.Asn281Ser) single nucleotide variant Benign rs115276341 GRCh37 Chromosome 12, 57638114: 57638114
8 STAC3 NM_145064.2(STAC3): c.842A> G (p.Asn281Ser) single nucleotide variant Benign rs115276341 GRCh38 Chromosome 12, 57244331: 57244331
9 STAC3 NM_145064.2(STAC3): c.604-8C> T single nucleotide variant Benign rs76823783 GRCh37 Chromosome 12, 57639002: 57639002
10 STAC3 NM_145064.2(STAC3): c.604-8C> T single nucleotide variant Benign rs76823783 GRCh38 Chromosome 12, 57245219: 57245219
11 STAC3 NM_145064.2(STAC3): c.570G> A (p.Lys190=) single nucleotide variant Benign rs76667525 GRCh38 Chromosome 12, 57246837: 57246837
12 STAC3 NM_145064.2(STAC3): c.570G> A (p.Lys190=) single nucleotide variant Benign rs76667525 GRCh37 Chromosome 12, 57640620: 57640620
13 STAC3 NM_145064.2(STAC3): c.355C> T (p.Arg119Cys) single nucleotide variant Benign/Likely benign rs146313451 GRCh38 Chromosome 12, 57248783: 57248783
14 STAC3 NM_145064.2(STAC3): c.355C> T (p.Arg119Cys) single nucleotide variant Benign/Likely benign rs146313451 GRCh37 Chromosome 12, 57642566: 57642566
15 STAC3 NM_145064.2(STAC3): c.862A> T (p.Lys288Ter) single nucleotide variant Likely pathogenic rs371720347 GRCh37 Chromosome 12, 57638005: 57638005
16 STAC3 NM_145064.2(STAC3): c.862A> T (p.Lys288Ter) single nucleotide variant Likely pathogenic rs371720347 GRCh38 Chromosome 12, 57244222: 57244222
17 STAC3 NM_145064.2(STAC3): c.432+4A> T single nucleotide variant Uncertain significance rs751033943 GRCh37 Chromosome 12, 57642485: 57642485
18 STAC3 NM_145064.2(STAC3): c.432+4A> T single nucleotide variant Uncertain significance rs751033943 GRCh38 Chromosome 12, 57248702: 57248702
19 STAC3 NM_145064.2(STAC3): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57248144: 57248144
20 STAC3 NM_145064.2(STAC3): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57641927: 57641927
21 STAC3 NM_145064.2(STAC3): c.157G> A (p.Val53Met) single nucleotide variant Uncertain significance rs141938531 GRCh38 Chromosome 12, 57249218: 57249218
22 STAC3 NM_145064.2(STAC3): c.157G> A (p.Val53Met) single nucleotide variant Uncertain significance rs141938531 GRCh37 Chromosome 12, 57643001: 57643001
23 STAC3 NM_145064.2(STAC3): c.932A> G (p.His311Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57637935: 57637935
24 STAC3 NM_145064.2(STAC3): c.932A> G (p.His311Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57244152: 57244152
25 STAC3 NM_145064.2(STAC3): c.383_399del17 (p.His128Leufs) deletion Uncertain significance GRCh37 Chromosome 12, 57642522: 57642538
26 STAC3 NM_145064.2(STAC3): c.383_399del17 (p.His128Leufs) deletion Uncertain significance GRCh38 Chromosome 12, 57248739: 57248755
27 STAC3 NM_001286256.1(STAC3): c.443T> A (p.Met148Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57640630: 57640630
28 STAC3 NM_001286256.1(STAC3): c.443T> A (p.Met148Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57246847: 57246847
29 STAC3 NM_145064.2(STAC3): c.883T> C (p.Phe295Leu) single nucleotide variant Likely benign rs138921555 GRCh38 Chromosome 12, 57244201: 57244201
30 STAC3 NM_145064.2(STAC3): c.883T> C (p.Phe295Leu) single nucleotide variant Likely benign rs138921555 GRCh37 Chromosome 12, 57637984: 57637984
31 STAC3 NM_145064.2(STAC3): c.259G> A (p.Asp87Asn) single nucleotide variant Uncertain significance rs776406787 GRCh37 Chromosome 12, 57642899: 57642899
32 STAC3 NM_145064.2(STAC3): c.259G> A (p.Asp87Asn) single nucleotide variant Uncertain significance rs776406787 GRCh38 Chromosome 12, 57249116: 57249116
33 STAC3 NM_145064.2(STAC3): c.251T> G (p.Leu84Arg) single nucleotide variant Uncertain significance rs201754072 GRCh37 Chromosome 12, 57642907: 57642907
34 STAC3 NM_145064.2(STAC3): c.251T> G (p.Leu84Arg) single nucleotide variant Uncertain significance rs201754072 GRCh38 Chromosome 12, 57249124: 57249124
35 STAC3 NM_145064.2(STAC3): c.207_212delGGAAGA (p.Glu75_Glu76del) deletion Uncertain significance GRCh38 Chromosome 12, 57249163: 57249168
36 STAC3 NM_145064.2(STAC3): c.207_212delGGAAGA (p.Glu75_Glu76del) deletion Uncertain significance GRCh37 Chromosome 12, 57642946: 57642951
37 STAC3 NM_145064.2(STAC3): c.987G> T (p.Lys329Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57244097: 57244097
38 STAC3 NM_145064.2(STAC3): c.987G> T (p.Lys329Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57637880: 57637880
39 STAC3 NM_145064.2(STAC3): c.249G> A (p.Lys83=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 57642909: 57642909
40 STAC3 NM_145064.2(STAC3): c.249G> A (p.Lys83=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 57249126: 57249126
41 STAC3 NM_145064.2(STAC3): c.221A> G (p.Glu74Gly) single nucleotide variant Uncertain significance rs199716296 GRCh38 Chromosome 12, 57249154: 57249154
42 STAC3 NM_145064.2(STAC3): c.221A> G (p.Glu74Gly) single nucleotide variant Uncertain significance rs199716296 GRCh37 Chromosome 12, 57642937: 57642937
43 STAC3 NM_145064.2(STAC3): c.763_766delCTCT (p.Leu255Ilefs) deletion Pathogenic GRCh37 Chromosome 12, 57638360: 57638363
44 STAC3 NM_145064.2(STAC3): c.763_766delCTCT (p.Leu255Ilefs) deletion Pathogenic GRCh38 Chromosome 12, 57244577: 57244580
45 STAC3 NM_145064.2(STAC3): c.739C> T (p.Gln247Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57638387: 57638387
46 STAC3 NM_145064.2(STAC3): c.739C> T (p.Gln247Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57244604: 57244604
47 STAC3 NM_145064.2(STAC3): c.299C> T (p.Pro100Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 57642859: 57642859
48 STAC3 NM_145064.2(STAC3): c.299C> T (p.Pro100Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 57249076: 57249076
49 STAC3 NM_145064.2(STAC3): c.1052G> T (p.Arg351Leu) single nucleotide variant Uncertain significance rs762866281 GRCh37 Chromosome 12, 57637638: 57637638
50 STAC3 NM_145064.2(STAC3): c.1052G> T (p.Arg351Leu) single nucleotide variant Uncertain significance rs762866281 GRCh38 Chromosome 12, 57243855: 57243855

Expression for Myopathy, Congenital, Bailey-Bloch

Search GEO for disease gene expression data for Myopathy, Congenital, Bailey-Bloch.

Pathways for Myopathy, Congenital, Bailey-Bloch

Pathways related to Myopathy, Congenital, Bailey-Bloch 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 Myopathy, Congenital, Bailey-Bloch

Cellular components related to Myopathy, Congenital, Bailey-Bloch according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 CACNA1S QDPR RYR1 STAC STAC2 STAC3
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.33 STAC STAC2 STAC3
3 voltage-gated calcium channel complex GO:0005891 9.32 CACNA1S STAC3
4 I band GO:0031674 9.26 CACNA1S RYR1
5 T-tubule GO:0030315 9.13 CACNA1S RYR1 STAC
6 sarcolemma GO:0042383 9.02 CACNA1S RYR1 STAC STAC2 STAC3

Biological processes related to Myopathy, Congenital, Bailey-Bloch according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.54 STAC STAC2 STAC3
2 calcium ion transport GO:0006816 9.43 CACNA1S RYR1
3 calcium ion transmembrane transport GO:0070588 9.4 CACNA1S RYR1
4 muscle contraction GO:0006936 9.33 CACNA1S RYR1 STAC
5 skeletal muscle fiber development GO:0048741 9.32 RYR1 STAC3
6 cellular response to caffeine GO:0071313 9.26 CACNA1S RYR1
7 positive regulation of protein localization to plasma membrane GO:1903078 9.13 STAC STAC2 STAC3
8 positive regulation of voltage-gated calcium channel activity GO:1901387 8.8 STAC STAC2 STAC3

Molecular functions related to Myopathy, Congenital, Bailey-Bloch 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 Myopathy, Congenital, Bailey-Bloch

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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