DA1C
MCID: ART168
MIFTS: 19

Arthrogryposis, Distal, Type 1c (DA1C)

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 1c

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

Name: Arthrogryposis, Distal, Type 1c 57 6
Da1c 57 12
Distal Arthrogryposis Type 1c 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
little or no clinical differences between homozygotes and heterozygotes


Classifications:



External Ids:

Disease Ontology 12 DOID:0112190
OMIM® 57 619110
OMIM Phenotypic Series 57 PS108120

Summaries for Arthrogryposis, Distal, Type 1c

OMIM® : 57 Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020). (619110) (Updated 05-Apr-2021)

MalaCards based summary : Arthrogryposis, Distal, Type 1c, also known as da1c, is related to distal arthrogryposis. An important gene associated with Arthrogryposis, Distal, Type 1c is MYLPF (Myosin Light Chain, Phosphorylatable, Fast Skeletal Muscle).

Disease Ontology : 12 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has material basis in heterozygous or homozygous mutation in MYLPF on chromosome 16p11.2.

Related Diseases for Arthrogryposis, Distal, Type 1c

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 1c

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
camptodactyly
vertical talus
equinovarus

Skeletal Pelvis:
hip contractures

Head And Neck Neck:
short neck
limited neck rotation

Head And Neck Mouth:
cleft palate
pursed lips
cleft lip
high-arched palate
small mouth
more
Skeletal Hands:
camptodactyly
adducted thumbs
flexed metacarpophalangeal joints

Skeletal Limbs:
knee contractures
wrist contractures
elbow contractures
shoulder contractures

Clinical features from OMIM®:

619110 (Updated 05-Apr-2021)

Drugs & Therapeutics for Arthrogryposis, Distal, Type 1c

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

Genetic Tests for Arthrogryposis, Distal, Type 1c

Anatomical Context for Arthrogryposis, Distal, Type 1c

Publications for Arthrogryposis, Distal, Type 1c

Articles related to Arthrogryposis, Distal, Type 1c:

# Title Authors PMID Year
1
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. 57 6
32707087 2020
2
Transformation of photophysical properties from solution to solid state in alkoxy-cyano-diphenylacetylene molecules. 61
26118371 2015

Variations for Arthrogryposis, Distal, Type 1c

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC112441444 , MYLPF NM_013292.5(MYLPF):c.487G>A (p.Gly163Ser) SNV Pathogenic 916687 GRCh37: 16:30389198-30389198
GRCh38: 16:30377877-30377877
2 MYLPF NM_013292.5(MYLPF):c.98C>T (p.Ala33Val) SNV Pathogenic 916688 GRCh37: 16:30387467-30387467
GRCh38: 16:30376146-30376146

Expression for Arthrogryposis, Distal, Type 1c

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

Pathways for Arthrogryposis, Distal, Type 1c

GO Terms for Arthrogryposis, Distal, Type 1c

Sources for Arthrogryposis, Distal, Type 1c

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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