DA2B3
MCID: ART157
MIFTS: 25

Arthrogryposis, Distal, Type 2b3 (DA2B3)

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

Aliases & Classifications for Arthrogryposis, Distal, Type 2b3

MalaCards integrated aliases for Arthrogryposis, Distal, Type 2b3:

Name: Arthrogryposis, Distal, Type 2b3 56 29 29 6
Da2b3 56 12 73
Distal Arthrogryposis Type 2b3 12
Arthrogryposis, Distal, 2b3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability in phenotype and severity
interfamilial variable expressivity
contractures are nonprogressive
some patients exhibit primarily facial dysmorphism, with minimal changes in their hands and feet


HPO:

31
arthrogryposis, distal, type 2b3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111602
OMIM 56 618436
OMIM Phenotypic Series 56 PS108120
MeSH 43 D001176

Summaries for Arthrogryposis, Distal, Type 2b3

UniProtKB/Swiss-Prot : 73 Arthrogryposis, distal, 2B3: 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 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant.

MalaCards based summary : Arthrogryposis, Distal, Type 2b3, is also known as da2b3. An important gene associated with Arthrogryposis, Distal, Type 2b3 is MYH3 (Myosin Heavy Chain 3). Related phenotypes are scoliosis and short stature

Disease Ontology : 12 A distal arthrogryposis type 2B that has material basis in heterozygous mutation in MYH3 on chromosome 17p13.1.

OMIM : 56 Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness (Tajsharghi et al., 2008). Considerable inter- and intrafamilial variability has been reported (Xu et al., 2018). (618436)

Related Diseases for Arthrogryposis, Distal, Type 2b3

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b3

Human phenotypes related to Arthrogryposis, Distal, Type 2b3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 short stature 31 HP:0004322
3 ptosis 31 HP:0000508
4 talipes equinovarus 31 HP:0001762
5 downslanted palpebral fissures 31 HP:0000494
6 hallux valgus 31 HP:0001822
7 triangular face 31 HP:0000325
8 overlapping fingers 31 HP:0010557
9 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Head And Neck Face:
triangular face
prominent nasolabial folds
contractures of the jaw

Head And Neck Ears:
attached earlobes

Head And Neck Nose:
broad bridge of nose

Skeletal Limbs:
contractures in proximal and distal joints

Muscle Soft Tissue:
decreased muscle strength (in some patients)
increased frequency of small type 1 fibers
increased variability of fiber size

Growth Height:
short stature

Skeletal Feet:
talipes equinovarus
hallux valgus
contractures of feet

Skeletal Hands:
overlapping fingers
camptodactyly
contractures of hands
ulnar deviation of all metacarpophalangeal joints
palmar malpositioning of thumb

Skeletal Skull:
contractures of the jaw

Head And Neck Mouth:
slightly small mouth

Skin Nails Hair Skin:
hypoplastic or absent flexion creases of palms

Clinical features from OMIM:

618436

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2b3

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 2b3

Genetic Tests for Arthrogryposis, Distal, Type 2b3

Genetic tests related to Arthrogryposis, Distal, Type 2b3:

# Genetic test Affiliating Genes
1 Arthrogryposis, Distal, Type 2b3 (sheldon-Hall) 29
2 Arthrogryposis, Distal, Type 2b3 29

Anatomical Context for Arthrogryposis, Distal, Type 2b3

Publications for Arthrogryposis, Distal, Type 2b3

Articles related to Arthrogryposis, Distal, Type 2b3:

# Title Authors PMID Year
1
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). 56 6
29625835 2018
2
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. 6 56
18695058 2008
3
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 56 6
16642020 2006
4
Distal arthrogryposis: clinical and genetic findings. 56
22519952 2012
5
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. 56
21531865 2011

Variations for Arthrogryposis, Distal, Type 2b3

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 2b3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys)SNV Pathogenic 631471 rs1567559027 17:10548001-10548001 17:10644684-10644684
2 MYH3 NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)SNV Pathogenic 14140 rs121913619 17:10553691-10553691 17:10650374-10650374
3 MYH3 NM_002470.4(MYH3):c.2590_2592del (p.Leu864del)deletion Pathogenic 14142 rs879255230 17:10543403-10543405 17:10640086-10640088
4 MYH3 NM_002470.4(MYH3):c.782C>T (p.Ser261Phe)SNV Likely pathogenic 694358 17:10550697-10550697 17:10647380-10647380
5 MYH3 NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)duplication Likely pathogenic 828124 17:10537450-10537451 17:10634133-10634134
6 MYH3 NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)SNV Likely pathogenic 14145 rs121913623 17:10551909-10551909 17:10648592-10648592
7 MYH3 NM_002470.4(MYH3):c.1549G>T (p.Asp517Tyr)SNV Uncertain significance 694359 17:10546175-10546175 17:10642858-10642858
8 MYH3 NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)SNV Uncertain significance 14143 rs121913621 17:10549042-10549042 17:10645725-10645725
9 MYH3 NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)SNV Uncertain significance 14144 rs121913622 17:10547693-10547693 17:10644376-10644376

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 2b3:

73
# Symbol AA change Variation ID SNP ID
1 MYH3 p.Thr178Ile VAR_030370 rs121913619
2 MYH3 p.Ser261Phe VAR_030371
3 MYH3 p.Gly769Val VAR_030379
4 MYH3 p.Lys838Glu VAR_030381
5 MYH3 p.Ala234Thr VAR_082275 rs121913623

Expression for Arthrogryposis, Distal, Type 2b3

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2b3.

Pathways for Arthrogryposis, Distal, Type 2b3

GO Terms for Arthrogryposis, Distal, Type 2b3

Sources for Arthrogryposis, Distal, Type 2b3

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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