DA2B3
MCID: ART157
MIFTS: 21

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 57 29 6
Da2b3 57 74
Arthrogryposis, Distal, 2b3 74

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

MeSH 44 D001176
MedGen 42 CN258393

Summaries for Arthrogryposis, Distal, Type 2b3

UniProtKB/Swiss-Prot : 74 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.

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).

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
downslanting palpebral fissures

Growth Height:
short stature

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

Skeletal Spine:
scoliosis

Skeletal Feet:
talipes equinovarus
hallux valgus
contractures of feet

Skeletal Hands:
camptodactyly
overlapping fingers
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

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). 8 71
29625835 2018
2
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. 8 71
18695058 2008
3
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 8 71
16642020 2006
4
Distal arthrogryposis: clinical and genetic findings. 8
22519952 2012
5
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. 8
21531865 2011

Variations for Arthrogryposis, Distal, Type 2b3

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYH3 NM_002470.4(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 17:10553691-10553691 17:10650374-10650374
2 MYH3 NM_002470.4(MYH3): c.2590_2592del (p.Leu864del) deletion Pathogenic rs879255230 17:10543403-10543405 17:10640086-10640088
3 MYH3 NM_002470.4(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 17:10549042-10549042 17:10645725-10645725
4 MYH3 NM_002470.4(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 17:10547693-10547693 17:10644376-10644376
5 MYH3 NM_002470.4(MYH3): c.1160A> G (p.Tyr387Cys) single nucleotide variant Pathogenic 17:10548001-10548001 17:10644684-10644684
6 MYH3 NM_002470.4(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 17:10551909-10551909 17:10648592-10648592

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....