BTHLM2
MCID: BTH006
MIFTS: 20

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 57 75 29 6
Bthlm2 57 75
Edsmyp 57 75
Ehlers-Danlos Syndrome, Myopathic Type; Edsmyp 57
Ehlers-Danlos Syndrome, Myopathic Type 57
Ehlers-Danlos Syndrome, Myopathic 75
Myopathy, Bethlem, Type 2 40
Eds, Myopathic Type 57
Eds, Myopathic 75

Characteristics:

OMIM:

57
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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bethlem Myopathy 2:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 kyphosis 32 HP:0002808
3 flexion contracture 32 HP:0001371
4 myopathy 32 HP:0003198
5 elevated serum creatine phosphokinase 32 HP:0003236
6 joint laxity 32 HP:0001388
7 generalized hypotonia 32 HP:0001290
8 difficulty running 32 HP:0009046
9 stooped posture 32 HP:0025403
10 delayed ability to walk 32 HP:0031936

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 29 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:

75
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....