BTHLM2
MCID: BTH006
MIFTS: 21

Bethlem Myopathy 2 (BTHLM2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bethlem Myopathy 2

MalaCards integrated aliases for Bethlem Myopathy 2:

Name: Bethlem Myopathy 2 58 76 30 6
Bthlm2 58 76
Edsmyp 58 76
Ehlers-Danlos Syndrome, Myopathic Type; Edsmyp 58
Ehlers-Danlos Syndrome, Myopathic Type 58
Ehlers-Danlos Syndrome Myopathic Type 38
Ehlers-Danlos Syndrome, Myopathic 76
Myopathy, Bethlem, Type 2 41
Eds, Myopathic Type 58
Eds, Myopathic 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade
large joint contractures may resolve over time
muscle strength tends to improve during the teenage years


Classifications:



Summaries for Bethlem Myopathy 2

UniProtKB/Swiss-Prot : 76 Bethlem myopathy 2: A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant.

MalaCards based summary : Bethlem Myopathy 2, is also known as bthlm2. An important gene associated with Bethlem Myopathy 2 is COL12A1 (Collagen Type XII Alpha 1 Chain). Related phenotypes are muscle weakness and kyphosis

Description from OMIM: 616471

Related Diseases for Bethlem Myopathy 2

Diseases in the Bethlem Myopathy 1 family:

Bethlem Myopathy 2

Symptoms & Phenotypes for Bethlem Myopathy 2

Human phenotypes related to Bethlem Myopathy 2:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 kyphosis 33 HP:0002808
3 flexion contracture 33 HP:0001371
4 myopathy 33 HP:0003198
5 joint laxity 33 HP:0001388
6 generalized hypotonia 33 HP:0001290
7 difficulty running 33 HP:0009046
8 stooped posture 33 HP:0025403
9 elevated serum creatine kinase 33 HP:0003236
10 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
kyphosis
stooped posture

Skeletal:
joint laxity
proximal joint contractures

Neurologic Central Nervous System:
delayed motor development
delayed walking
inability or difficulty running

Laboratory Abnormalities:
increased serum creatine kinase
fibroblasts show a reduction of and disorganization in collagen xii in the extracellular matrix

Skeletal Pelvis:
hip dislocation (in some patients)

Skeletal Feet:
distal joint hyperlaxity

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
hypotonia
fibrosis
muscle weakness, mainly proximal
mild myopathic changes seen on muscle biopsy
mild variability in fiber diameter
more
Skin Nails Hair Skin:
atrophic scarring
hypertrophic scarring

Head And Neck Neck:
neck weakness

Skeletal Hands:
distal joint hyperlaxity
flexion finger contractures

Clinical features from OMIM:

616471

Drugs & Therapeutics for Bethlem Myopathy 2

Search Clinical Trials , NIH Clinical Center for Bethlem Myopathy 2

Genetic Tests for Bethlem Myopathy 2

Genetic tests related to Bethlem Myopathy 2:

# Genetic test Affiliating Genes
1 Bethlem Myopathy 2 30 COL12A1

Anatomical Context for Bethlem Myopathy 2

Publications for Bethlem Myopathy 2

Variations for Bethlem Myopathy 2

UniProtKB/Swiss-Prot genetic disease variations for Bethlem Myopathy 2:

76
# Symbol AA change Variation ID SNP ID
1 COL12A1 p.Ile2334Thr VAR_074547 rs796052093
2 COL12A1 p.Gly2786Asp VAR_074548 rs796052094

ClinVar genetic disease variations for Bethlem Myopathy 2:

6 (show top 50) (show all 468)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL12A1 NM_004370.5(COL12A1): c.7001T> C (p.Ile2334Thr) single nucleotide variant Pathogenic rs796052093 GRCh37 Chromosome 6, 75831103: 75831103
2 COL12A1 NM_004370.5(COL12A1): c.7001T> C (p.Ile2334Thr) single nucleotide variant Pathogenic rs796052093 GRCh38 Chromosome 6, 75121387: 75121387
3 COL12A1 NM_004370.5(COL12A1): c.8357G> A (p.Gly2786Asp) single nucleotide variant Pathogenic rs796052094 GRCh37 Chromosome 6, 75812371: 75812371
4 COL12A1 NM_004370.5(COL12A1): c.8357G> A (p.Gly2786Asp) single nucleotide variant Pathogenic rs796052094 GRCh38 Chromosome 6, 75102655: 75102655
5 COL12A1 NM_004370.5(COL12A1): c.5893C> T (p.Arg1965Cys) single nucleotide variant Uncertain significance rs200487396 GRCh37 Chromosome 6, 75841700: 75841700
6 COL12A1 NM_004370.5(COL12A1): c.5893C> T (p.Arg1965Cys) single nucleotide variant Uncertain significance rs200487396 GRCh38 Chromosome 6, 75131984: 75131984
7 COL12A1 NM_004370.5(COL12A1): c.9162C> T (p.Tyr3054=) single nucleotide variant Benign rs35292916 GRCh38 Chromosome 6, 75087596: 75087596
8 COL12A1 NM_004370.5(COL12A1): c.9162C> T (p.Tyr3054=) single nucleotide variant Benign rs35292916 GRCh37 Chromosome 6, 75797312: 75797312
9 COL12A1 NM_004370.5(COL12A1): c.9083G> A (p.Arg3028His) single nucleotide variant Conflicting interpretations of pathogenicity rs41266761 GRCh38 Chromosome 6, 75087675: 75087675
10 COL12A1 NM_004370.5(COL12A1): c.9083G> A (p.Arg3028His) single nucleotide variant Conflicting interpretations of pathogenicity rs41266761 GRCh37 Chromosome 6, 75797391: 75797391
11 COL12A1 NM_004370.5(COL12A1): c.8980T> C (p.Ser2994Pro) single nucleotide variant Benign rs34846477 GRCh38 Chromosome 6, 75089136: 75089136
12 COL12A1 NM_004370.5(COL12A1): c.8980T> C (p.Ser2994Pro) single nucleotide variant Benign rs34846477 GRCh37 Chromosome 6, 75798852: 75798852
13 COL12A1 NM_004370.5(COL12A1): c.8237T> C (p.Val2746Ala) single nucleotide variant Benign/Likely benign rs34369939 GRCh38 Chromosome 6, 75105234: 75105234
14 COL12A1 NM_004370.5(COL12A1): c.8237T> C (p.Val2746Ala) single nucleotide variant Benign/Likely benign rs34369939 GRCh37 Chromosome 6, 75814950: 75814950
15 COL12A1 NM_004370.5(COL12A1): c.7898T> C (p.Val2633Ala) single nucleotide variant Likely benign rs200408101 GRCh38 Chromosome 6, 75113256: 75113256
16 COL12A1 NM_004370.5(COL12A1): c.7898T> C (p.Val2633Ala) single nucleotide variant Likely benign rs200408101 GRCh37 Chromosome 6, 75822972: 75822972
17 COL12A1 NM_004370.5(COL12A1): c.7786A> G (p.Ile2596Val) single nucleotide variant Benign rs35710072 GRCh38 Chromosome 6, 75113656: 75113656
18 COL12A1 NM_004370.5(COL12A1): c.7786A> G (p.Ile2596Val) single nucleotide variant Benign rs35710072 GRCh37 Chromosome 6, 75823372: 75823372
19 COL12A1 NM_004370.5(COL12A1): c.7299G> T (p.Thr2433=) single nucleotide variant Benign rs35551395 GRCh38 Chromosome 6, 75119098: 75119098
20 COL12A1 NM_004370.5(COL12A1): c.7299G> T (p.Thr2433=) single nucleotide variant Benign rs35551395 GRCh37 Chromosome 6, 75828814: 75828814
21 COL12A1 NM_004370.5(COL12A1): c.6479A> T (p.Glu2160Val) single nucleotide variant Benign rs35523808 GRCh38 Chromosome 6, 75125255: 75125255
22 COL12A1 NM_004370.5(COL12A1): c.6479A> T (p.Glu2160Val) single nucleotide variant Benign rs35523808 GRCh37 Chromosome 6, 75834971: 75834971
23 COL12A1 NM_004370.5(COL12A1): c.6281C> A (p.Thr2094Asn) single nucleotide variant Benign/Likely benign rs201567848 GRCh38 Chromosome 6, 75128355: 75128355
24 COL12A1 NM_004370.5(COL12A1): c.6281C> A (p.Thr2094Asn) single nucleotide variant Benign/Likely benign rs201567848 GRCh37 Chromosome 6, 75838071: 75838071
25 COL12A1 NM_004370.5(COL12A1): c.6198A> C (p.Pro2066=) single nucleotide variant Benign rs34619869 GRCh38 Chromosome 6, 75130103: 75130103
26 COL12A1 NM_004370.5(COL12A1): c.6198A> C (p.Pro2066=) single nucleotide variant Benign rs34619869 GRCh37 Chromosome 6, 75839819: 75839819
27 COL12A1 NM_004370.5(COL12A1): c.5727C> T (p.Tyr1909=) single nucleotide variant Benign rs146146364 GRCh37 Chromosome 6, 75843076: 75843076
28 COL12A1 NM_004370.5(COL12A1): c.5727C> T (p.Tyr1909=) single nucleotide variant Benign rs146146364 GRCh38 Chromosome 6, 75133360: 75133360
29 COL12A1 NM_004370.5(COL12A1): c.5508G> A (p.Thr1836=) single nucleotide variant Benign rs77425231 GRCh38 Chromosome 6, 75134742: 75134742
30 COL12A1 NM_004370.5(COL12A1): c.5508G> A (p.Thr1836=) single nucleotide variant Benign rs77425231 GRCh37 Chromosome 6, 75844458: 75844458
31 COL12A1 NM_004370.5(COL12A1): c.5225G> A (p.Arg1742His) single nucleotide variant Benign rs79830915 GRCh38 Chromosome 6, 75138453: 75138453
32 COL12A1 NM_004370.5(COL12A1): c.5225G> A (p.Arg1742His) single nucleotide variant Benign rs79830915 GRCh37 Chromosome 6, 75848169: 75848169
33 COL12A1 NM_004370.5(COL12A1): c.4479G> A (p.Gln1493=) single nucleotide variant Likely benign rs370024636 GRCh38 Chromosome 6, 75146183: 75146183
34 COL12A1 NM_004370.5(COL12A1): c.4479G> A (p.Gln1493=) single nucleotide variant Likely benign rs370024636 GRCh37 Chromosome 6, 75855899: 75855899
35 COL12A1 NM_004370.5(COL12A1): c.4245T> C (p.Tyr1415=) single nucleotide variant Benign/Likely benign rs34830422 GRCh38 Chromosome 6, 75148400: 75148400
36 COL12A1 NM_004370.5(COL12A1): c.4245T> C (p.Tyr1415=) single nucleotide variant Benign/Likely benign rs34830422 GRCh37 Chromosome 6, 75858116: 75858116
37 COL12A1 NM_004370.5(COL12A1): c.4001-10G> A single nucleotide variant Benign rs73749974 GRCh38 Chromosome 6, 75151297: 75151297
38 COL12A1 NM_004370.5(COL12A1): c.4001-10G> A single nucleotide variant Benign rs73749974 GRCh37 Chromosome 6, 75861013: 75861013
39 COL12A1 NM_004370.5(COL12A1): c.2772T> C (p.Tyr924=) single nucleotide variant Benign rs35429515 GRCh38 Chromosome 6, 75165718: 75165718
40 COL12A1 NM_004370.5(COL12A1): c.2772T> C (p.Tyr924=) single nucleotide variant Benign rs35429515 GRCh37 Chromosome 6, 75875434: 75875434
41 COL12A1 NM_004370.5(COL12A1): c.2481G> A (p.Thr827=) single nucleotide variant Benign rs35170847 GRCh37 Chromosome 6, 75884983: 75884983
42 COL12A1 NM_004370.5(COL12A1): c.2481G> A (p.Thr827=) single nucleotide variant Benign rs35170847 GRCh38 Chromosome 6, 75175267: 75175267
43 COL12A1 NM_004370.5(COL12A1): c.2275C> T (p.Pro759Ser) single nucleotide variant Benign/Likely benign rs141517088 GRCh38 Chromosome 6, 75177825: 75177825
44 COL12A1 NM_004370.5(COL12A1): c.2275C> T (p.Pro759Ser) single nucleotide variant Benign/Likely benign rs141517088 GRCh37 Chromosome 6, 75887541: 75887541
45 COL12A1 NM_004370.5(COL12A1): c.2086T> C (p.Leu696=) single nucleotide variant Benign rs116691242 GRCh38 Chromosome 6, 75181017: 75181017
46 COL12A1 NM_004370.5(COL12A1): c.2086T> C (p.Leu696=) single nucleotide variant Benign rs116691242 GRCh37 Chromosome 6, 75890733: 75890733
47 COL12A1 NM_004370.5(COL12A1): c.2007G> A (p.Ala669=) single nucleotide variant Benign rs77790445 GRCh38 Chromosome 6, 75181096: 75181096
48 COL12A1 NM_004370.5(COL12A1): c.2007G> A (p.Ala669=) single nucleotide variant Benign rs77790445 GRCh37 Chromosome 6, 75890812: 75890812
49 COL12A1 NM_004370.5(COL12A1): c.1551A> G (p.Thr517=) single nucleotide variant Benign rs34767467 GRCh38 Chromosome 6, 75183390: 75183390
50 COL12A1 NM_004370.5(COL12A1): c.1551A> G (p.Thr517=) single nucleotide variant Benign rs34767467 GRCh37 Chromosome 6, 75893106: 75893106

Expression for Bethlem Myopathy 2

Search GEO for disease gene expression data for Bethlem Myopathy 2.

Pathways for Bethlem Myopathy 2

GO Terms for Bethlem Myopathy 2

Sources for Bethlem Myopathy 2

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