MYPBB
MCID: MYP151
MIFTS: 47

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 56 73
Native American Myopathy 56 12 52 58 73 36 29 6 43 15
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 52 58
Mypbb 56 73
Nam 56 73
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 56
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia 73
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 52
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 52
Myopathy, Congenital, Baily-Bloch 56
Native American Myopathy; Nam 56

Characteristics:

Orphanet epidemiological data:

58
native american myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
myopathy, congenital, bailey-bloch:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Myopathy, Congenital, Bailey-Bloch

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168572 Definition Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature , cleft palate , ptosis and susceptibility to malignant hyperthermia during anesthesia. Epidemiology NAM 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. Etiology The NAM locus has been localized to 12q13.13-14.1. Genetic counseling The 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 ptosis and myopathy, congenital. An important gene associated with Myopathy, Congenital, Bailey-Bloch is STAC3 (SH3 And Cysteine Rich Domain 3), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Netrin Signaling. Affiliated tissues include skeletal muscle, kidney and brain, and related phenotypes are muscle weakness and myopathic facies

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 and that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13.

OMIM : 56 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)

KEGG : 36 Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM.

UniProtKB/Swiss-Prot : 73 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 178)
# Related Disease Score Top Affiliating Genes
1 ptosis 29.5 STAC3 RYR1 CCDC78
2 myopathy, congenital 29.4 STAC3 SELENON RYR1
3 malignant hyperthermia 28.9 STAC3 SELENON RYR1 CACNA1S
4 myopathy 28.9 STAC3 SELENON RYR1 CCDC78
5 necrotizing autoimmune myopathy 12.1
6 stac3 disorder 11.9
7 avian influenza 10.4
8 malaria 10.3
9 influenza 10.3
10 cleft lip 10.3
11 hepatocellular carcinoma 10.2
12 japanese encephalitis 10.2
13 trachoma 10.2
14 cleft lip/palate 10.2
15 diarrhea 10.2
16 encephalitis 10.2
17 typhoid fever 10.2
18 mouth disease 10.2
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.1
21 tetanus 10.1
22 diphtheria 10.1
23 iron metabolism disease 10.1
24 poliomyelitis 10.1
25 alcohol dependence 10.1
26 gastric cancer 10.1
27 dengue virus 10.1
28 hand, foot and mouth disease 10.1
29 dengue disease 10.1
30 ancylostomiasis 10.1
31 plasmodium falciparum malaria 10.1
32 disease of mental health 10.1
33 hepatitis b 10.1
34 leptospirosis 10.1
35 pulmonary tuberculosis 10.1
36 multidrug-resistant tuberculosis 10.1
37 metagonimiasis 10.1
38 meningitis 10.1
39 head injury 10.1
40 familial periodic paralysis 10.0 RYR1 CACNA1S
41 periodic paralysis 10.0 RYR1 CACNA1S
42 papillomatosis, confluent and reticulated 10.0
43 schizophrenia 10.0
44 leprosy 3 10.0
45 cervical cancer 10.0
46 body mass index quantitative trait locus 1 10.0
47 deficiency anemia 10.0
48 exanthem 10.0
49 paragonimiasis 10.0
50 pertussis 10.0

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 myopathic facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0002058
3 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
9 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
10 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
11 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
12 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
13 malignant hyperthermia 58 31 frequent (33%) Frequent (79-30%) HP:0002047
14 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
15 progressive congenital scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0008458
16 abnormality of skeletal muscle fiber size 58 31 frequent (33%) Frequent (79-30%) HP:0012084
17 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
18 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
21 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
22 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
23 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
24 muscle fiber atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100295
25 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
26 submucous cleft soft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0011819
27 intellectual disability 31 occasional (7.5%) HP:0001249
28 ventriculomegaly 31 occasional (7.5%) HP:0002119
29 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
30 inability to walk 58 31 very rare (1%) Very rare (<4-1%) HP:0002540
31 joint laxity 58 31 very rare (1%) Very rare (<4-1%) HP:0001388
32 facial hemangioma 58 31 very rare (1%) Very rare (<4-1%) HP:0000329
33 camptodactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0012385
34 cleft palate 58 31 Frequent (79-30%) HP:0000175
35 low-set ears 31 HP:0000369
36 ptosis 31 HP:0000508
37 microcephaly 31 HP:0000252
38 flexion contracture 31 HP:0001371
39 midface retrusion 31 HP:0011800
40 brachycephaly 31 HP:0000248
41 kyphoscoliosis 31 HP:0002751
42 telecanthus 31 HP:0000506
43 talipes 31 HP:0001883
44 hyporeflexia 31 HP:0001265
45 blepharophimosis 31 HP:0000581
46 congenital contracture 58 Frequent (79-30%)
47 abnormality of the curvature of the vertebral column 58 Frequent (79-30%)
48 short palpebral fissure 31 HP:0012745
49 restrictive deficit on pulmonary function testing 31 HP:0002111
50 multiple skeletal anomalies 31 HP:0005775

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
hearing loss, conductive

Growth Height:
short stature

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

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

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

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Head:
brachycephaly
small head circumference

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

MGI Mouse Phenotypes related to Myopathy, Congenital, Bailey-Bloch:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CACNA1S MYMK RYR1 SELENON STAC3

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:

40
Skeletal Muscle, Kidney, Brain, Testes, Bone, Liver, Lung

Publications for Myopathy, Congenital, Bailey-Bloch

Articles related to Myopathy, Congenital, Bailey-Bloch:

(show all 13)
# Title Authors PMID Year
1
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. 61 56 6
28411587 2017
2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 61 56 6
28777491 2017
3
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 61 56 6
23736855 2013
4
STAC3 Disorder 61 6
31219695 2019
5
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 61 56
18843099 2008
6
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 61 56
18553514 2008
7
Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome? 56
3245876 1988
8
Malignant hyperthermia in a three-month-old American Indian infant. 56
3631569 1987
9
Malignant Hyperthermia. 61
31040503 2019
10
Structural insights into binding of STAC proteins to voltage-gated calcium channels. 61
29078335 2017
11
STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. 61
28112192 2017
12
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. 61
28003463 2017
13
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. 61
27621462 2016

Variations for Myopathy, Congenital, Bailey-Bloch

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

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAC3 NM_145064.3(STAC3):c.761_762CT[1] (p.Leu255fs)short repeat Pathogenic 559850 rs773050511 12:57638360-57638363 12:57244577-57244580
2 STAC3 NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)SNV Pathogenic 88744 rs140291094 12:57638105-57638105 12:57244322-57244322
3 STAC3 NM_145064.3(STAC3):c.997-1G>TSNV Pathogenic 691283 12:57637694-57637694 12:57243911-57243911
4 STAC3 NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)SNV Likely pathogenic 425007 rs371720347 12:57638005-57638005 12:57244222-57244222
5 STAC3 NM_145064.3(STAC3):c.432+4A>TSNV Uncertain significance 425008 rs751033943 12:57642485-57642485 12:57248702-57248702
6 STAC3 NM_145064.3(STAC3):c.487G>A (p.Ala163Thr)SNV Uncertain significance 465660 rs1555194487 12:57641927-57641927 12:57248144-57248144
7 STAC3 NM_145064.3(STAC3):c.157G>A (p.Val53Met)SNV Uncertain significance 465658 rs141938531 12:57643001-57643001 12:57249218-57249218
8 STAC3 NM_145064.3(STAC3):c.932A>G (p.His311Arg)SNV Uncertain significance 465661 rs1555193817 12:57637935-57637935 12:57244152-57244152
9 STAC3 NM_145064.3(STAC3):c.383_399del (p.His128fs)deletion Uncertain significance 465659 rs1555194630 12:57642522-57642538 12:57248739-57248755
10 STAC3 NM_145064.3(STAC3):c.560T>A (p.Met187Lys)SNV Uncertain significance 522766 rs1461373398 12:57640630-57640630 12:57246847-57246847
11 STAC3 NM_145064.3(STAC3):c.259G>A (p.Asp87Asn)SNV Uncertain significance 534096 rs776406787 12:57642899-57642899 12:57249116-57249116
12 STAC3 NM_145064.3(STAC3):c.251T>G (p.Leu84Arg)SNV Uncertain significance 534099 rs201754072 12:57642907-57642907 12:57249124-57249124
13 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[2] (p.Glu75_Glu76del)short repeat Uncertain significance 534098 rs747619441 12:57642946-57642951 12:57249163-57249168
14 STAC3 NM_145064.3(STAC3):c.987G>T (p.Lys329Asn)SNV Uncertain significance 534097 rs1445308443 12:57637880-57637880 12:57244097-57244097
15 STAC3 NM_145064.3(STAC3):c.221A>G (p.Glu74Gly)SNV Uncertain significance 534100 rs199716296 12:57642937-57642937 12:57249154-57249154
16 STAC3 NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)SNV Uncertain significance 577652 rs1202215410 12:57638387-57638387 12:57244604-57244604
17 STAC3 NM_145064.3(STAC3):c.299C>T (p.Pro100Leu)SNV Uncertain significance 582541 rs1176692820 12:57642859-57642859 12:57249076-57249076
18 STAC3 NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu)SNV Uncertain significance 568460 rs762866281 12:57637638-57637638 12:57243855-57243855
19 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[4] (p.Glu75_Glu76dup)short repeat Uncertain significance 565591 rs747619441 12:57642945-57642946 12:57249162-57249163
20 STAC3 NM_145064.3(STAC3):c.347T>G (p.Phe116Cys)SNV Uncertain significance 568539 rs1565783065 12:57642574-57642574 12:57248791-57248791
21 STAC3 NM_145064.3(STAC3):c.806C>T (p.Pro269Leu)SNV Uncertain significance 578220 rs367590066 12:57638320-57638320 12:57244537-57244537
22 STAC3 NM_145064.3(STAC3):c.941C>T (p.Thr314Met)SNV Uncertain significance 661534 12:57637926-57637926 12:57244143-57244143
23 STAC3 NM_145064.3(STAC3):c.895A>G (p.Asn299Asp)SNV Uncertain significance 647235 12:57637972-57637972 12:57244189-57244189
24 STAC3 NM_145064.3(STAC3):c.574C>T (p.Arg192Trp)SNV Uncertain significance 646124 12:57640616-57640616 12:57246833-57246833
25 STAC3 NM_145064.3(STAC3):c.473G>A (p.Ser158Asn)SNV Uncertain significance 646361 12:57641941-57641941 12:57248158-57248158
26 STAC3 NM_145064.3(STAC3):c.280G>A (p.Asp94Asn)SNV Uncertain significance 649373 12:57642878-57642878 12:57249095-57249095
27 STAC3 NM_145064.3(STAC3):c.170G>T (p.Gly57Val)SNV Uncertain significance 644215 12:57642988-57642988 12:57249205-57249205
28 STAC3 NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr)SNV Uncertain significance 644689 12:57643394-57643394 12:57249611-57249611
29 STAC3 NM_145064.3(STAC3):c.997-1G>CSNV Uncertain significance 639920 12:57637694-57637694 12:57243911-57243911
30 STAC3 NM_145064.3(STAC3):c.604-8C>TSNV Benign 262576 rs76823783 12:57639002-57639002 12:57245219-57245219
31 STAC3 NM_145064.3(STAC3):c.570G>A (p.Lys190=)SNV Benign 262575 rs76667525 12:57640620-57640620 12:57246837-57246837

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

73
# Symbol AA change Variation ID SNP ID
1 STAC3 p.Trp284Ser VAR_071313 rs140291094

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
Show member pathways
11.93 RYR1 CACNA1S CACFD1
2 10.65 RYR1 CACNA1S
3 9.7 RYR1 CACNA1S

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 plasma membrane GO:0005886 9.98 STAC3 STAC2 STAC RYR1 MYMK CCDC78
2 membrane GO:0016020 9.97 STAC3 STAC2 STAC SELENON RYR1 MYMK
3 sarcoplasmic reticulum GO:0016529 9.4 RYR1 CCDC78
4 voltage-gated calcium channel complex GO:0005891 9.37 STAC3 CACNA1S
5 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.33 STAC3 STAC2 STAC
6 I band GO:0031674 9.26 RYR1 CACNA1S
7 T-tubule GO:0030315 9.26 STAC3 STAC RYR1 CACNA1S
8 sarcolemma GO:0042383 9.02 STAC3 STAC2 STAC RYR1 CCDC78

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 9.58 STAC3 STAC2 STAC
2 muscle contraction GO:0006936 9.54 STAC RYR1 CACNA1S
3 positive regulation of protein localization to plasma membrane GO:1903078 9.5 STAC3 STAC2 STAC
4 skeletal muscle fiber development GO:0048741 9.43 STAC3 SELENON RYR1
5 cellular response to caffeine GO:0071313 9.33 SELENON RYR1 CACNA1S
6 positive regulation of voltage-gated calcium channel activity GO:1901387 9.13 STAC3 STAC2 STAC
7 skeletal muscle contraction GO:0003009 8.92 STAC3 STAC2 STAC CCDC78

Molecular functions related to Myopathy, Congenital, Bailey-Bloch according to GeneCards Suite gene sharing:

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

Sources for Myopathy, Congenital, Bailey-Bloch

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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