DA2B3
MCID: ART157
MIFTS: 17

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, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 2b3

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

Name: Arthrogryposis, Distal, Type 2b3 58 6
Da2b3 58

Characteristics:

OMIM:

58
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:

OMIM 58 618436

Summaries for Arthrogryposis, Distal, Type 2b3

OMIM : 58 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)

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). Affiliated tissues include bone and eye.

Related Diseases for Arthrogryposis, Distal, Type 2b3

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2b3

Symptoms via clinical synopsis from OMIM:

58
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:
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

Anatomical Context for Arthrogryposis, Distal, Type 2b3

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2b3:

42
Bone, Eye

Publications for Arthrogryposis, Distal, Type 2b3

Variations for Arthrogryposis, Distal, Type 2b3

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh37 Chromosome 17, 10553691: 10553691
2 MYH3 NM_002470.3(MYH3): c.533C> T (p.Thr178Ile) single nucleotide variant Pathogenic rs121913619 GRCh38 Chromosome 17, 10650374: 10650374
3 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh37 Chromosome 17, 10543403: 10543405
4 MYH3 NM_002470.3(MYH3): c.2590_2592delCTC (p.Leu864del) deletion Pathogenic rs879255230 GRCh38 Chromosome 17, 10640086: 10640088
5 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh37 Chromosome 17, 10549042: 10549042
6 MYH3 NM_002470.3(MYH3): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic rs121913621 GRCh38 Chromosome 17, 10645725: 10645725
7 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh37 Chromosome 17, 10547693: 10547693
8 MYH3 NM_002470.3(MYH3): c.1385A> G (p.Asp462Gly) single nucleotide variant Pathogenic rs121913622 GRCh38 Chromosome 17, 10644376: 10644376
9 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 GRCh37 Chromosome 17, 10551909: 10551909
10 MYH3 NM_002470.3(MYH3): c.700G> A (p.Ala234Thr) single nucleotide variant Likely pathogenic rs121913623 GRCh38 Chromosome 17, 10648592: 10648592
11 MYH3 NM_002470.4(MYH3): c.1160A> G (p.Tyr387Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10644684: 10644684
12 MYH3 NM_002470.4(MYH3): c.1160A> G (p.Tyr387Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10548001: 10548001

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
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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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