MCID: DGT009
MIFTS: 37

Digitotalar Dysmorphism

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Digitotalar Dysmorphism

MalaCards integrated aliases for Digitotalar Dysmorphism:

Name: Digitotalar Dysmorphism 58 60 74
Distal Arthrogryposis Type 1 60
Ulnar Drift, Hereditary 58
Da1a 60
Da1 60

Characteristics:

Orphanet epidemiological data:

60
digitotalar dysmorphism
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
digitotalar dysmorphism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 126050
ICD10 via Orphanet 35 Q68.8
UMLS via Orphanet 75 C0220662 C1852085
Orphanet 60 ORPHA1146
MedGen 43 C1852085
UMLS 74 C1852085

Summaries for Digitotalar Dysmorphism

MalaCards based summary : Digitotalar Dysmorphism, also known as distal arthrogryposis type 1, is related to arthrogryposis, distal, type 1a and arthrogryposis, distal, type 5. An important gene associated with Digitotalar Dysmorphism is TNNT3 (Troponin T3, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs Dopamine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include bone and tongue, and related phenotypes are adducted thumb and overlapping fingers

Description from OMIM: 126050

Related Diseases for Digitotalar Dysmorphism

Graphical network of the top 20 diseases related to Digitotalar Dysmorphism:



Diseases related to Digitotalar Dysmorphism

Symptoms & Phenotypes for Digitotalar Dysmorphism

Human phenotypes related to Digitotalar Dysmorphism:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adducted thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0001181
2 overlapping fingers 60 33 hallmark (90%) Very frequent (99-80%) HP:0010557
3 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
4 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
5 ulnar deviation of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009465
6 talipes 60 33 frequent (33%) Frequent (79-30%) HP:0001883
7 abnormality of the hip bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0003272
8 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
9 rocker bottom foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001838
10 mild short stature 33 HP:0003502

Symptoms via clinical synopsis from OMIM:

58
Limbs:
ulnar deviation of fingers
flexion deformity of fingers
rocker-bottom feet
thumb adduction contraction

Radiology:
vertical talus

Growth:
variable moderate short stature

Clinical features from OMIM:

126050

Drugs & Therapeutics for Digitotalar Dysmorphism

Drugs for Digitotalar Dysmorphism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 1 62-31-7, 51-61-6 681
2
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4 Antipsychotic Agents Phase 4,Phase 1
5 Dopamine Antagonists Phase 4,Phase 1
6 Psychotropic Drugs Phase 4,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 1
8 Tranquilizing Agents Phase 4,Phase 1
9 Dopamine Agents Phase 4,Phase 1
10 Central Nervous System Depressants Phase 4,Phase 1
11 Autonomic Agents Phase 4
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Antidepressive Agents Phase 4
14 Serotonin Antagonists Phase 4
15 Peripheral Nervous System Agents Phase 4
16 Serotonin Agents Phase 4
17 Dopamine D2 Receptor Antagonists Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Serotonin 5-HT1 Receptor Agonists Phase 4
20 Antiemetics Phase 4
21 Serotonin 5-HT2 Receptor Antagonists Phase 4
22 Serotonin Receptor Agonists Phase 4
23 Gastrointestinal Agents Phase 4
24 Dopamine agonists Phase 4
25
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
26
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
27 Flupenthixol decanoate Phase 1
28
Protein C Approved Not Applicable
29
Adenosine Approved, Investigational 58-61-7 60961
30
Serine Approved, Nutraceutical Not Applicable 56-45-1 5951
31 HIV Protease Inhibitors Not Applicable
32 Protein C Inhibitor Not Applicable
33 Trypsin Inhibitors Not Applicable
34 Serine Proteinase Inhibitors Not Applicable
35
protease inhibitors Not Applicable
36 Alpha 1-Antitrypsin Not Applicable
37 Analgesics
38 Anti-Arrhythmia Agents
39 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia Completed NCT00103571 Phase 4 Olanzapine;Aripiprazole
2 Infusion Laboratory: Protocol 5 (Flupenthixol) - 14 Unknown status NCT00000349 Phase 1 Flupenthixol
3 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211 Not Applicable
4 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
5 Accuracy of Spircare Device as Compared to the Conventional Plethysmograph Enrolling by invitation NCT03056066
6 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
7 Epidemiology Study of Malaria Transmission Intensity in Sub-Saharan Africa Completed NCT01954264 Not Applicable

Search NIH Clinical Center for Digitotalar Dysmorphism

Genetic Tests for Digitotalar Dysmorphism

Anatomical Context for Digitotalar Dysmorphism

MalaCards organs/tissues related to Digitotalar Dysmorphism:

42
Bone, Tongue

Publications for Digitotalar Dysmorphism

Articles related to Digitotalar Dysmorphism:

# Title Authors Year
1
Digitotalar dysmorphism: Molecular elucidation. ( 26915936 )
2016
2
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ( 26374086 )
2016
3
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. ( 21531865 )
2011
4
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. ( 20045868 )
2010
5
Digitotalar dysmorphism with craniofacial and other new associated abnormalities. ( 11446408 )
2001
6
Prenatal diagnosis of distal arthrogryposis type 1. ( 10384996 )
1999
7
Distal arthrogryposis type 1: clinical analysis of a large kindred. ( 8923936 )
1996

Variations for Digitotalar Dysmorphism

Expression for Digitotalar Dysmorphism

Search GEO for disease gene expression data for Digitotalar Dysmorphism.

Pathways for Digitotalar Dysmorphism

GO Terms for Digitotalar Dysmorphism

Cellular components related to Digitotalar Dysmorphism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.26 MYBPC1 MYH3
2 myofibril GO:0030016 9.16 MYBPC1 MYH3
3 myosin filament GO:0032982 8.96 MYBPC1 MYH3
4 troponin complex GO:0005861 8.62 TNNI2 TNNT3

Biological processes related to Digitotalar Dysmorphism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.43 MYBPC1 MYH3 TNNT3
2 cardiac muscle contraction GO:0060048 9.4 TNNI2 TNNT3
3 regulation of muscle contraction GO:0006937 9.37 TNNI2 TNNT3
4 skeletal muscle contraction GO:0003009 9.33 MYH3 TNNI2 TNNT3
5 regulation of ATPase activity GO:0043462 9.32 TNNT3 TPM2
6 muscle contraction GO:0006936 9.26 MYBPC1 TNNI2 TNNT3 TPM2
7 muscle filament sliding GO:0030049 9.02 MYBPC1 MYH3 TNNI2 TNNT3 TPM2

Molecular functions related to Digitotalar Dysmorphism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 MYBPC1 TPM2
2 actin filament binding GO:0051015 9.13 MYBPC1 MYH3 TPM2
3 actin binding GO:0003779 8.92 MYH3 TNNI2 TNNT3 TPM2

Sources for Digitotalar Dysmorphism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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