Aliases & Classifications for Digitotalar Dysmorphism

MalaCards integrated aliases for Digitotalar Dysmorphism:

Name: Digitotalar Dysmorphism 57 70
Ulnar Drift, Hereditary 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
digitotalar dysmorphism:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 126050
MedGen 41 C1852085
UMLS 70 C1852085

Summaries for Digitotalar Dysmorphism

MalaCards based summary : Digitotalar Dysmorphism, also known as ulnar drift, hereditary, is related to arthrogryposis, distal, type 1a and thumbs, congenital clasped. An important gene associated with Digitotalar Dysmorphism is TNNT3 (Troponin T3, Fast Skeletal Type). Related phenotypes are ulnar deviation of finger and camptodactyly of finger

More information 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 11.7
2 thumbs, congenital clasped 10.1
3 hemangioma of subcutaneous tissue 10.1
4 hemangioma 10.1

Symptoms & Phenotypes for Digitotalar Dysmorphism

Human phenotypes related to Digitotalar Dysmorphism:

31
# Description HPO Frequency HPO Source Accession
1 ulnar deviation of finger 31 HP:0009465
2 camptodactyly of finger 31 HP:0100490
3 rocker bottom foot 31 HP:0001838
4 mild short stature 31 HP:0003502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Digitotalar Dysmorphism

Search Clinical Trials , NIH Clinical Center for Digitotalar Dysmorphism

Genetic Tests for Digitotalar Dysmorphism

Anatomical Context for Digitotalar Dysmorphism

Publications for Digitotalar Dysmorphism

Articles related to Digitotalar Dysmorphism:

# Title Authors PMID Year
1
Dominantly inherited digito-talar dysmorphism. 57
5066209 1972
2
Digitotalar dysmorphism: Molecular elucidation. 61
26915936 2016
3
Digitotalar dysmorphism with craniofacial and other new associated abnormalities. 61
11446408 2001
4
Congenital vertical talus: classification with 69 cases and new measurement system. 61
6736236 1984
5
Diagnostic considerations in arthrogryposis syndromes in South Africa. 61
6538466 1984
6
Familial arthrogryposis with distal involvement of the limbs. 61
7083669 1982

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

Sources for Digitotalar Dysmorphism

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