DA1
MCID: DGT009
MIFTS: 35

Digitotalar Dysmorphism (DA1)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Digitotalar Dysmorphism

MalaCards integrated aliases for Digitotalar Dysmorphism:

Name: Digitotalar Dysmorphism 57 59 73
Distal Arthrogryposis Type 1 59
Ulnar Drift, Hereditary 57
Da1a 59
Da1 59

Characteristics:

Orphanet epidemiological data:

59
digitotalar dysmorphism
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
digitotalar dysmorphism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 126050
Orphanet 59 ORPHA1146
UMLS via Orphanet 74 C1852085 C0220662
ICD10 via Orphanet 34 Q68.8
MedGen 42 C1852085
UMLS 73 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 fissured tongue. 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 Aripiprazole and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are joint stiffness and abnormality of the hip bone

Description from OMIM: 126050

Related Diseases for Digitotalar Dysmorphism

Diseases related to Digitotalar Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 31.1 MYBPC1 TPM2
2 fissured tongue 9.8 TNNI2 TNNT3
3 tongue disease 9.7 TNNI2 TNNT3
4 arthrogryposis, distal, type 2a 9.7 MYH3 NALCN
5 congenital contractures 9.5 NALCN TNNT3
6 congenital fiber-type disproportion 9.5 TNNI2 TNNT3 TPM2
7 clubfoot 8.4 MYBPC1 MYH3 TNNT3 TPM2
8 arthrogryposis, distal, type 5 8.2 MYH3 NALCN TNNI2 TNNT3 TPM2
9 distal arthrogryposis 7.2 MYBPC1 MYH3 NALCN TNNI2 TNNT3 TPM2

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



Diseases related to Digitotalar Dysmorphism

Symptoms & Phenotypes for Digitotalar Dysmorphism

Symptoms via clinical synopsis from OMIM:

57
Radiology:
vertical talus

Growth:
variable moderate short stature

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


Clinical features from OMIM:

126050

Human phenotypes related to Digitotalar Dysmorphism:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
2 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
3 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
4 adducted thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001181
5 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
6 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
7 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
8 rocker bottom foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001838
9 overlapping fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0010557
10 mild short stature 32 HP:0003502

Drugs & Therapeutics for Digitotalar Dysmorphism

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
2
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
3 Antipsychotic Agents Phase 4,Phase 1
4 Central Nervous System Depressants Phase 4,Phase 1
5 Neurotransmitter Agents Phase 4,Phase 1
6 Psychotropic Drugs Phase 4,Phase 1
7 Tranquilizing Agents Phase 4,Phase 1
8 Antiemetics Phase 4
9 Autonomic Agents Phase 4
10 Gastrointestinal Agents Phase 4
11 Neurotransmitter Uptake Inhibitors Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Serotonin Agents Phase 4
14 Serotonin Uptake Inhibitors Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Cocaine Approved, Illicit Phase 1 50-36-2 5760 446220
17
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
18 decanoic acid Phase 1
19 Dopamine Agents Phase 1
20 Dopamine Antagonists Phase 1
21 Flupenthixol decanoate Phase 1
22
Protein C Approved Not Applicable
23
Menthol Approved 2216-51-5 16666
24
Adenosine Approved, Investigational 58-61-7 60961
25
Serine Approved, Nutraceutical Not Applicable 56-45-1 5951
26 Alpha 1-Antitrypsin Not Applicable
27 HIV Protease Inhibitors Not Applicable
28
protease inhibitors Not Applicable
29 Protein C Inhibitor Not Applicable
30 Serine Proteinase Inhibitors Not Applicable
31 Trypsin Inhibitors Not Applicable
32 Analgesics
33 Anti-Arrhythmia Agents
34 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 Recruiting 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

Search NIH Clinical Center for Digitotalar Dysmorphism

Genetic Tests for Digitotalar Dysmorphism

Anatomical Context for Digitotalar Dysmorphism

MalaCards organs/tissues related to Digitotalar Dysmorphism:

41
Bone

Publications for Digitotalar Dysmorphism

Articles related to Digitotalar Dysmorphism:

# Title Authors Year
1
Digitotalar dysmorphism: Molecular elucidation. ( 26915936 )
2016
2
Digitotalar dysmorphism with craniofacial and other new associated abnormalities. ( 11446408 )
2001

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 myofibril GO:0030016 9.26 MYBPC1 MYH3
2 muscle myosin complex GO:0005859 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 actin filament organization GO:0007015 9.43 MYBPC1 TPM2
2 sarcomere organization GO:0045214 9.43 MYBPC1 MYH3 TNNT3
3 cardiac muscle contraction GO:0060048 9.4 TNNI2 TNNT3
4 regulation of muscle contraction GO:0006937 9.37 TNNI2 TNNT3
5 skeletal muscle contraction GO:0003009 9.33 MYH3 TNNI2 TNNT3
6 regulation of ATPase activity GO:0043462 9.32 TNNT3 TPM2
7 muscle contraction GO:0006936 9.26 MYBPC1 TNNI2 TNNT3 TPM2
8 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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