DA1B
MCID: ART060
MIFTS: 34

Arthrogryposis, Distal, Type 1b (DA1B)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 1b

MalaCards integrated aliases for Arthrogryposis, Distal, Type 1b:

Name: Arthrogryposis, Distal, Type 1b 57 13 39 70
Distal Arthrogryposis Type 1b 12 29 6 15
Da1b 57 12 72
Arthrogryposis, Distal, 1b 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
phenotypic variability
some patients show only distal extremity involvement

Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 1b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111598
OMIM® 57 614335
OMIM Phenotypic Series 57 PS108120
MeSH 44 D001176
UMLS 70 C3280526

Summaries for Arthrogryposis, Distal, Type 1b

UniProtKB/Swiss-Prot : 72 Arthrogryposis, distal, 1B: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

MalaCards based summary : Arthrogryposis, Distal, Type 1b, also known as distal arthrogryposis type 1b, is related to arthrogryposis, distal, type 1a and fissured tongue. An important gene associated with Arthrogryposis, Distal, Type 1b is MYBPC1 (Myosin Binding Protein C1), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include eye and tongue, and related phenotypes are distal arthrogryposis and contractures involving the joints of the feet

Disease Ontology : 12 A distal arthrogryposis type 1 that has material basis in heterozygous mutation in MYBPC1 on chromosome 12q23.2.

More information from OMIM: 614335 PS108120

Related Diseases for Arthrogryposis, Distal, Type 1b

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3
Arthrogryposis, Distal, Type 1c

Diseases related to Arthrogryposis, Distal, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 28.5 ZDHHC2 VTA1 TNNT3 TNNI2 SOX6 SLC17A6
2 fissured tongue 9.7 TNNT3 TNNI2
3 arthrogryposis, distal, type 2b1 9.7 TNNT3 TNNI2
4 arthrogryposis, distal, type 10 9.6 TNNT3 TNNI2
5 lethal congenital contracture syndrome 4 9.6 TNNT3 TNNI2 MYBPC1
6 arthrogryposis, distal, type 7 9.6 TNNT3 TNNI2
7 spondylocarpotarsal synostosis syndrome 9.6 TNNT3 TNNI2 SOX6
8 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.5 TNNT3 TNNI2
9 multiple pterygium syndrome, escobar variant 9.5 TNNT3 TNNI2 PIEZO2
10 arthrogryposis, distal, type 5d 9.4 TNNT3 TNNI2 PIEZO2 MYBPC1
11 distal arthrogryposis 9.3 TNNT3 TNNI2 PIEZO2 MYBPC1
12 arthrogryposis, distal, type 5 9.0 TNNT3 TNNI2 SOX6 PIEZO2 NDNF MYBPC1
13 arthrogryposis, distal, type 2a 8.4 ZDHHC2 TNNT3 TNNI2 SOX6 SLC17A6 PIEZO2

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 1b:



Diseases related to Arthrogryposis, Distal, Type 1b

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1b

Human phenotypes related to Arthrogryposis, Distal, Type 1b:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 distal arthrogryposis 31 obligate (100%) HP:0005684
2 contractures involving the joints of the feet 31 hallmark (90%) HP:0008366
3 talipes equinovarus 31 very rare (1%) HP:0001762
4 rocker bottom foot 31 very rare (1%) HP:0001838
5 joint contracture of the hand 31 very rare (1%) HP:0009473
6 arthrogryposis multiplex congenita 31 HP:0002804
7 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
talipes equinovarus
vertical talus

Muscle Soft Tissue:
reduced extensor strength (in some patients)
type 1 fibers smaller than type ii fibers

Skeletal Hands:
camptodactyly
ulnar deviation of fingers

Clinical features from OMIM®:

614335 (Updated 20-May-2021)

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1b

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 1b

Genetic Tests for Arthrogryposis, Distal, Type 1b

Genetic tests related to Arthrogryposis, Distal, Type 1b:

# Genetic test Affiliating Genes
1 Distal Arthrogryposis Type 1b 29 MYBPC1

Anatomical Context for Arthrogryposis, Distal, Type 1b

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 1b:

40
Eye, Tongue

Publications for Arthrogryposis, Distal, Type 1b

Articles related to Arthrogryposis, Distal, Type 1b:

# Title Authors PMID Year
1
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 6 57
20045868 2010
2
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. 61
25679999 2015

Variations for Arthrogryposis, Distal, Type 1b

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 1b:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC1 NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg) SNV Pathogenic 29800 rs387906657 GRCh37: 12:102036237-102036237
GRCh38: 12:101642459-101642459
2 MYBPC1 NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) SNV Uncertain significance 29801 rs387906658 GRCh37: 12:102064140-102064140
GRCh38: 12:101670362-101670362
3 MYBPC1 NM_002465.4(MYBPC1):c.309A>T (p.Ile103=) SNV Uncertain significance 306720 rs886048829 GRCh37: 12:102025368-102025368
GRCh38: 12:101631590-101631590
4 MYBPC1 NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu) SNV Uncertain significance 306748 rs886048835 GRCh37: 12:102074136-102074136
GRCh38: 12:101680358-101680358
5 MYBPC1 NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro) SNV Uncertain significance 306735 rs886048831 GRCh37: 12:102046962-102046962
GRCh38: 12:101653184-101653184
6 MYBPC1 NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=) SNV Uncertain significance 306743 rs886048834 GRCh37: 12:102061592-102061592
GRCh38: 12:101667814-101667814
7 MYBPC1 NM_002465.4(MYBPC1):c.675G>A (p.Lys225=) SNV Uncertain significance 306727 rs376374877 GRCh37: 12:102036206-102036206
GRCh38: 12:101642428-101642428
8 MYBPC1 NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala) SNV Uncertain significance 306746 rs769333525 GRCh37: 12:102064153-102064153
GRCh38: 12:101670375-101670375
9 MYBPC1 NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val) SNV Uncertain significance 306733 rs150541115 GRCh37: 12:102046482-102046482
GRCh38: 12:101652704-101652704
10 MYBPC1 NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu) SNV Uncertain significance 306747 rs749155247 GRCh37: 12:102069168-102069168
GRCh38: 12:101675390-101675390
11 MYBPC1 NM_002465.4(MYBPC1):c.*277T>C SNV Uncertain significance 306756 rs886048839 GRCh37: 12:102079617-102079617
GRCh38: 12:101685839-101685839
12 MYBPC1 NM_002465.4(MYBPC1):c.*144C>G SNV Uncertain significance 306753 rs886048836 GRCh37: 12:102079484-102079484
GRCh38: 12:101685706-101685706
13 MYBPC1 NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) SNV Uncertain significance 592090 rs1566012539 GRCh37: 12:102071994-102071994
GRCh38: 12:101678216-101678216
14 MYBPC1 NM_002465.4(MYBPC1):c.290-10C>T SNV Uncertain significance 880877 GRCh37: 12:102025339-102025339
GRCh38: 12:101631561-101631561
15 MYBPC1 NM_002465.4(MYBPC1):c.2033-9T>A SNV Uncertain significance 880934 GRCh37: 12:102056127-102056127
GRCh38: 12:101662349-101662349
16 MYBPC1 NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His) SNV Uncertain significance 880935 GRCh37: 12:102056256-102056256
GRCh38: 12:101662478-101662478
17 MYBPC1 NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met) SNV Uncertain significance 882294 GRCh37: 12:102067367-102067367
GRCh38: 12:101673589-101673589
18 MYBPC1 NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr) SNV Uncertain significance 882295 GRCh37: 12:102067376-102067376
GRCh38: 12:101673598-101673598
19 MYBPC1 NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro) SNV Uncertain significance 882505 GRCh37: 12:102043075-102043075
GRCh38: 12:101649297-101649297
20 MYBPC1 NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu) SNV Uncertain significance 880937 GRCh37: 12:102057285-102057285
GRCh38: 12:101663507-101663507
21 MYBPC1 NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr) SNV Uncertain significance 882252 GRCh37: 12:102041880-102041880
GRCh38: 12:101648102-101648102
22 MYBPC1 NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg) SNV Uncertain significance 882562 GRCh37: 12:102071076-102071076
GRCh38: 12:101677298-101677298
23 MYBPC1 NM_002465.4(MYBPC1):c.142+10A>T SNV Uncertain significance 884161 GRCh37: 12:102020698-102020698
GRCh38: 12:101626920-101626920
24 MYBPC1 NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=) SNV Likely benign 882563 GRCh37: 12:102074279-102074279
GRCh38: 12:101680501-101680501
25 MYBPC1 NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu) SNV Likely benign 882507 GRCh37: 12:102045044-102045044
GRCh38: 12:101651266-101651266
26 MYBPC1 NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=) SNV Likely benign 306740 rs146295846 GRCh37: 12:102056227-102056227
GRCh38: 12:101662449-101662449
27 MYBPC1 NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) SNV Likely benign 306745 rs761232017 GRCh37: 12:102061675-102061675
GRCh38: 12:101667897-101667897
28 MYBPC1 NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) SNV Benign 306728 rs761503353 GRCh37: 12:102036281-102036281
GRCh38: 12:101642503-101642503
29 MYBPC1 NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) SNV Benign 306742 rs201984898 GRCh37: 12:102057302-102057302
GRCh38: 12:101663524-101663524
30 MYBPC1 NM_002465.4(MYBPC1):c.-93C>T SNV Benign 306703 rs78173516 GRCh37: 12:101988756-101988756
GRCh38: 12:101594978-101594978
31 MYBPC1 NM_002465.4(MYBPC1):c.-13T>C SNV Benign 306706 rs368264809 GRCh37: 12:101988836-101988836
GRCh38: 12:101595058-101595058
32 MYBPC1 NM_002465.4(MYBPC1):c.556+9G>A SNV Benign 306722 rs112788142 GRCh37: 12:102025925-102025925
GRCh38: 12:101632147-101632147
33 MYBPC1 NM_002465.4(MYBPC1):c.*45C>T SNV Benign 306751 rs73390504 GRCh37: 12:102079385-102079385
GRCh38: 12:101685607-101685607
34 MYBPC1 NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys) SNV Benign 306730 rs138048478 GRCh37: 12:102043091-102043091
GRCh38: 12:101649313-101649313
35 MYBPC1 NM_002465.4(MYBPC1):c.-75G>T SNV Benign 306704 rs1697477 GRCh37: 12:101988774-101988774
GRCh38: 12:101594996-101594996
36 MYBPC1 NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) SNV Benign 306707 rs201472372 GRCh37: 12:101988865-101988865
GRCh38: 12:101595087-101595087
37 MYBPC1 NM_002465.4(MYBPC1):c.*78G>A SNV Benign 306752 rs2764 GRCh37: 12:102079418-102079418
GRCh38: 12:101685640-101685640
38 MYBPC1 NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) SNV Benign 306749 rs149742717 GRCh37: 12:102074276-102074276
GRCh38: 12:101680498-101680498
39 MYBPC1 NM_002465.4(MYBPC1):c.557-10C>T SNV Benign 306724 rs529365953 GRCh37: 12:102028322-102028322
GRCh38: 12:101634544-101634544
40 MYBPC1 NM_002465.4(MYBPC1):c.*317C>A SNV Benign 306757 rs192569541 GRCh37: 12:102079657-102079657
GRCh38: 12:101685879-101685879
41 MYBPC1 NM_002465.4(MYBPC1):c.608+9A>G SNV Benign 211546 rs183524782 GRCh37: 12:102028392-102028392
GRCh38: 12:101634614-101634614
42 MYBPC1 NM_002465.4(MYBPC1):c.178+7G>A SNV Benign 306718 rs376040468 GRCh37: 12:102021589-102021589
GRCh38: 12:101627811-101627811
43 MYBPC1 NM_002465.4(MYBPC1):c.19+3A>G SNV Benign 306750 rs2303628 GRCh37: 12:102078205-102078205
GRCh38: 12:101684427-101684427
44 MYBPC1 NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) SNV Benign 211545 rs79442861 GRCh37: 12:102028369-102028369
GRCh38: 12:101634591-101634591
45 MYBPC1 NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) SNV Benign 306734 rs141026830 GRCh37: 12:102046910-102046910
GRCh38: 12:101653132-101653132
46 MYBPC1 NM_002465.4(MYBPC1):c.608+14A>G SNV Benign 306725 rs4448745 GRCh37: 12:102028397-102028397
GRCh38: 12:101634619-101634619
47 MYBPC1 NM_002465.4(MYBPC1):c.192C>T (p.Val64=) SNV Benign 306719 rs143380884 GRCh37: 12:102023225-102023225
GRCh38: 12:101629447-101629447
48 MYBPC1 NM_002465.4(MYBPC1):c.438+9C>G SNV Benign 306721 rs186857045 GRCh37: 12:102025506-102025506
GRCh38: 12:101631728-101631728
49 MYBPC1 NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) SNV Benign 306732 rs139605474 GRCh37: 12:102045102-102045102
GRCh38: 12:101651324-101651324
50 MYBPC1 NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) SNV Benign 306744 rs772332498 GRCh37: 12:102061661-102061661
GRCh38: 12:101667883-101667883

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 1b:

72
# Symbol AA change Variation ID SNP ID
1 MYBPC1 p.Trp211Arg VAR_067045 rs387906657
2 MYBPC1 p.Tyr849His VAR_067046 rs387906658
3 MYBPC1 p.Glu161Lys VAR_075219 rs137056396

Expression for Arthrogryposis, Distal, Type 1b

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 1b.

Pathways for Arthrogryposis, Distal, Type 1b

Pathways related to Arthrogryposis, Distal, Type 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.66 TNNT3 TNNI2 MYBPC1

GO Terms for Arthrogryposis, Distal, Type 1b

Cellular components related to Arthrogryposis, Distal, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 8.62 TNNT3 TNNI2

Biological processes related to Arthrogryposis, Distal, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.33 TNNT3 TNNI2 MYBPC1
2 skeletal muscle contraction GO:0003009 9.26 TNNT3 TNNI2
3 muscle filament sliding GO:0030049 9.13 TNNT3 TNNI2 MYBPC1
4 regulation of muscle contraction GO:0006937 8.8 TNNT3 TNNI2 ADRA1A

Sources for Arthrogryposis, Distal, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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