MYPBB
MCID: MYP151
MIFTS: 42

Myopathy, Congenital, Bailey-Bloch (MYPBB)

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 58 76
Native American Myopathy 58 12 54 60 76 38 30 6 45 15
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 54 60
Mypbb 58 76
Nam 58 76
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 58
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 76
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 54
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 54
Myopathy, Congenital, Baily-Bloch 58
Native American Myopathy; Nam 58

Characteristics:

Orphanet epidemiological data:

60
native american myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
myopathy, congenital, bailey-bloch:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myopathy, Congenital, Bailey-Bloch

NIH Rare Diseases : 54 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 intellectual disability and ventriculomegaly

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 : 58 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 : 76 Myopathy, congenital, Bailey-Bloch: An autosomal recessive 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 83)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 28.6 CACNA1S QDPR RYR1 STAC3
2 necrotizing autoimmune myopathy 12.0
3 horns in sheep 10.4
4 influenza 10.3
5 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.2
6 avian influenza 10.2
7 japanese encephalitis 10.2
8 cleft lip 10.2
9 encephalitis 10.2
10 muscle disorders 10.1
11 myopathy 10.1
12 hepatitis 10.1
13 cleft lip/palate 10.1
14 malaria 10.0
15 hepatitis b 10.0
16 trachoma 10.0
17 tetanus 10.0
18 diarrhea 10.0
19 typhoid fever 10.0
20 cholera 10.0
21 mouth disease 10.0
22 leprosy 3 10.0
23 mycobacterium tuberculosis 1 10.0
24 dengue virus 10.0
25 primary amebic meningoencephalitis 10.0
26 paragonimiasis 10.0
27 diphtheria 10.0
28 tetanus neonatorum 10.0
29 pulmonary tuberculosis 10.0
30 multidrug-resistant tuberculosis 10.0
31 desmoplastic infantile astrocytoma 10.0
32 hansen's disease 10.0
33 cleft palate, isolated 9.9
34 myopathy, congenital 9.9
35 alcohol dependence 9.8
36 aplasia cutis congenita, nonsyndromic 9.8
37 hepatocellular carcinoma 9.8
38 intussusception 9.8
39 retinoblastoma 9.8
40 yemenite deaf-blind hypopigmentation syndrome 9.8
41 human immunodeficiency virus type 1 9.8
42 dengue hemorrhagic fever 9.8
43 liver disease 9.8
44 skin disease 9.8
45 adiaspiromycosis 9.8
46 epidemic typhus 9.8
47 atrial fibrillation 9.8
48 cysticercosis 9.8
49 hand, foot and mouth disease 9.8
50 rabies 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

Human phenotypes related to Myopathy, Congenital, Bailey-Bloch:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 ventriculomegaly 33 occasional (7.5%) HP:0002119
3 low-set ears 33 HP:0000369
4 high palate 33 HP:0000218
5 ptosis 33 HP:0000508
6 muscle weakness 33 HP:0001324
7 microcephaly 33 HP:0000252
8 short stature 33 HP:0004322
9 flexion contracture 33 HP:0001371
10 brachycephaly 33 HP:0000248
11 skeletal muscle atrophy 33 HP:0003202
12 cleft palate 33 HP:0000175
13 micrognathia 33 HP:0000347
14 feeding difficulties 33 HP:0011968
15 cryptorchidism 33 HP:0000028
16 motor delay 33 HP:0001270
17 malignant hyperthermia 33 HP:0002047
18 kyphoscoliosis 33 HP:0002751
19 telecanthus 33 HP:0000506
20 downslanted palpebral fissures 33 HP:0000494
21 conductive hearing impairment 33 HP:0000405
22 downturned corners of mouth 33 HP:0002714
23 blepharophimosis 33 HP:0000581
24 midface retrusion 33 HP:0011800
25 hyporeflexia 33 HP:0001265
26 talipes 33 HP:0001883
27 myopathic facies 33 HP:0002058
28 short palpebral fissure 33 HP:0012745
29 restrictive deficit on pulmonary function testing 33 HP:0002111
30 multiple skeletal anomalies 33 HP:0005775

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Spine:
kyphoscoliosis

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

Neurologic Peripheral Nervous System:
hyporeflexia

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

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 30 STAC3

Anatomical Context for Myopathy, Congenital, Bailey-Bloch

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

42
Testes, Skeletal Muscle, Skin

Publications for Myopathy, Congenital, Bailey-Bloch

Articles related to Myopathy, Congenital, Bailey-Bloch:

# Title Authors Year
1
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. ( 28777491 )
2017
2
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. ( 28411587 )
2017
3
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. ( 23736855 )
2013
4
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:

76
# 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 rs1555194487 GRCh37 Chromosome 12, 57641927: 57641927
20 STAC3 NM_145064.2(STAC3): c.487G> A (p.Ala163Thr) single nucleotide variant Uncertain significance rs1555194487 GRCh38 Chromosome 12, 57248144: 57248144
21 STAC3 NM_145064.2(STAC3): c.157G> A (p.Val53Met) single nucleotide variant Uncertain significance rs141938531 GRCh37 Chromosome 12, 57643001: 57643001
22 STAC3 NM_145064.2(STAC3): c.157G> A (p.Val53Met) single nucleotide variant Uncertain significance rs141938531 GRCh38 Chromosome 12, 57249218: 57249218
23 STAC3 NM_145064.2(STAC3): c.932A> G (p.His311Arg) single nucleotide variant Uncertain significance rs1555193817 GRCh37 Chromosome 12, 57637935: 57637935
24 STAC3 NM_145064.2(STAC3): c.932A> G (p.His311Arg) single nucleotide variant Uncertain significance rs1555193817 GRCh38 Chromosome 12, 57244152: 57244152
25 STAC3 NM_145064.2(STAC3): c.383_399delATGAACACTGTCAGTCC (p.His128Leufs) deletion Uncertain significance rs1555194630 GRCh37 Chromosome 12, 57642522: 57642538
26 STAC3 NM_145064.2(STAC3): c.383_399delATGAACACTGTCAGTCC (p.His128Leufs) deletion Uncertain significance rs1555194630 GRCh38 Chromosome 12, 57248739: 57248755
27 STAC3 NM_001286256.1(STAC3): c.443T> A (p.Met148Lys) single nucleotide variant Uncertain significance rs1461373398 GRCh37 Chromosome 12, 57640630: 57640630
28 STAC3 NM_001286256.1(STAC3): c.443T> A (p.Met148Lys) single nucleotide variant Uncertain significance rs1461373398 GRCh38 Chromosome 12, 57246847: 57246847
29 STAC3 NM_145064.2(STAC3): c.883T> C (p.Phe295Leu) single nucleotide variant Likely benign rs138921555 GRCh37 Chromosome 12, 57637984: 57637984
30 STAC3 NM_145064.2(STAC3): c.883T> C (p.Phe295Leu) single nucleotide variant Likely benign rs138921555 GRCh38 Chromosome 12, 57244201: 57244201
31 STAC3 NM_145064.2(STAC3): c.259G> A (p.Asp87Asn) single nucleotide variant Uncertain significance rs776406787 GRCh38 Chromosome 12, 57249116: 57249116
32 STAC3 NM_145064.2(STAC3): c.259G> A (p.Asp87Asn) single nucleotide variant Uncertain significance rs776406787 GRCh37 Chromosome 12, 57642899: 57642899
33 STAC3 NM_145064.2(STAC3): c.251T> G (p.Leu84Arg) single nucleotide variant Uncertain significance rs201754072 GRCh38 Chromosome 12, 57249124: 57249124
34 STAC3 NM_145064.2(STAC3): c.251T> G (p.Leu84Arg) single nucleotide variant Uncertain significance rs201754072 GRCh37 Chromosome 12, 57642907: 57642907
35 STAC3 NM_145064.2(STAC3): c.207_212delGGAAGA (p.Glu75_Glu76del) deletion Uncertain significance rs747619441 GRCh38 Chromosome 12, 57249163: 57249168
36 STAC3 NM_145064.2(STAC3): c.207_212delGGAAGA (p.Glu75_Glu76del) deletion Uncertain significance rs747619441 GRCh37 Chromosome 12, 57642946: 57642951
37 STAC3 NM_145064.2(STAC3): c.987G> T (p.Lys329Asn) single nucleotide variant Uncertain significance rs1445308443 GRCh38 Chromosome 12, 57244097: 57244097
38 STAC3 NM_145064.2(STAC3): c.987G> T (p.Lys329Asn) single nucleotide variant Uncertain significance rs1445308443 GRCh37 Chromosome 12, 57637880: 57637880
39 STAC3 NM_145064.2(STAC3): c.249G> A (p.Lys83=) single nucleotide variant Likely benign rs1555194716 GRCh38 Chromosome 12, 57249126: 57249126
40 STAC3 NM_145064.2(STAC3): c.249G> A (p.Lys83=) single nucleotide variant Likely benign rs1555194716 GRCh37 Chromosome 12, 57642909: 57642909
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 rs773050511 GRCh37 Chromosome 12, 57638360: 57638363
44 STAC3 NM_145064.2(STAC3): c.763_766delCTCT (p.Leu255Ilefs) deletion Pathogenic rs773050511 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 GRCh37 Chromosome 12, 57637638: 57637638
50 STAC3 NM_145064.2(STAC3): c.1052G> T (p.Arg351Leu) single nucleotide variant Uncertain significance 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 8.92 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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