MCID: OBS417
MIFTS: 15

Obsolete: Brachydactyly of Toes

Categories: Rare diseases

Aliases & Classifications for Obsolete: Brachydactyly of Toes

MalaCards integrated aliases for Obsolete: Brachydactyly of Toes:

Name: Obsolete: Brachydactyly of Toes 59
Short Toe 29 6
Short Toes 59

Classifications:



External Ids:

Orphanet 59 ORPHA294998

Summaries for Obsolete: Brachydactyly of Toes

MalaCards based summary : Obsolete: Brachydactyly of Toes, also known as short toe, is related to obsolete: brachydactyly of toes, unilateral and obsolete: brachydactyly of toes, bilateral. An important gene associated with Obsolete: Brachydactyly of Toes is DPYD (Dihydropyrimidine Dehydrogenase). Affiliated tissues include skeletal muscle and cortex.

Related Diseases for Obsolete: Brachydactyly of Toes

Diseases in the Obsolete: Brachydactyly family:

Obsolete: Brachydactyly of Toes

Diseases related to Obsolete: Brachydactyly of Toes via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: brachydactyly of toes, unilateral 12.4
2 obsolete: brachydactyly of toes, bilateral 12.4
3 brachymetatarsus iv 11.3
4 borjeson-forssman-lehmann syndrome 11.0
5 peroneal nerve, accessory deep 9.8
6 neuromuscular disease 9.8

Graphical network of the top 20 diseases related to Obsolete: Brachydactyly of Toes:



Diseases related to Obsolete: Brachydactyly of Toes

Symptoms & Phenotypes for Obsolete: Brachydactyly of Toes

Drugs & Therapeutics for Obsolete: Brachydactyly of Toes

Search Clinical Trials , NIH Clinical Center for Obsolete: Brachydactyly of Toes

Genetic Tests for Obsolete: Brachydactyly of Toes

Genetic tests related to Obsolete: Brachydactyly of Toes:

# Genetic test Affiliating Genes
1 Short Toe 29

Anatomical Context for Obsolete: Brachydactyly of Toes

MalaCards organs/tissues related to Obsolete: Brachydactyly of Toes:

41
Skeletal Muscle, Cortex

Publications for Obsolete: Brachydactyly of Toes

Articles related to Obsolete: Brachydactyly of Toes:

(show all 21)
# Title Authors PMID Year
1
The potential of human toe flexor muscles to produce force. 38
22747582 2012
2
Mini-dystrophin restores L-type calcium currents in skeletal muscle of transgenic mdx mice. 38
14594987 2004
3
Long-latency reflexes in contracted hand and foot muscles and their relations to somatosensory evoked potentials and transcranial magnetic stimulation of the motor cortex. 38
10616105 1999
4
Anterior transfer of the toe flexors for equinovarus deformity due to hemiplegia. 38
8175851 1994
5
Role of extracellular metal cations in the potential dependence of force inactivation in skeletal muscle fibres. 38
8126216 1993
6
The effects of dihydropyridine derivatives on force and Ca2+ current in frog skeletal muscle fibres. 38
2170635 1990
7
The effect of the phenylalkylamine D888 (devapamil) on force and Ca2+ current in isolated frog skeletal muscle fibres. 38
2557440 1989
8
Action potential fatigue in single skeletal muscle fibres of Xenopus. 38
3577817 1987
9
Force and membrane potential during and after fatiguing, continuous high-frequency stimulation of single Xenopus muscle fibres. 38
3788614 1986
10
Force and membrane potential during and after fatiguing, intermittent tetanic stimulation of single Xenopus muscle fibres. 38
3788615 1986
11
[Diseases in the distal extremities of cows--a pathoanatomical study]. 38
6462904 1984
12
The effect of dorsal root transection on the efferent motor pattern in the cat's hindlimb during locomotion. 38
6741575 1984
13
Perchlorate-induced alterations in electrical and mechanical parameters of frog skeletal muscle fibres. 38
6315919 1983
14
Effects of prior activity on the conduction in single motor units in man. 38
6842244 1983
15
Dynamic peroneus tendon transfer for repair of the unstable ankle. 38
7139426 1982
16
Axonal refractory period of single short toe extensor motor units in neuropathies and neuromuscular diseases. 38
7334409 1981
17
Axonal refractory period of single short toe extensor motor units in man. 38
7441271 1980
18
The afferent influence on the voluntary firing range of individual motor units in man. 38
514309 1979
19
Contraction time and voluntary discharge properties of individual short toe extensor motor units in man. 38
458649 1979
20
Axonal conduction velocity and voluntary discharge properties of individual short toe extensor motor units in man. 38
650513 1978
21
Firing rate and recruitment order of toe extensor motor units in different modes of voluntary conraction. 38
845828 1977

Variations for Obsolete: Brachydactyly of Toes

ClinVar genetic disease variations for Obsolete: Brachydactyly of Toes:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(8;10)(q13;p13)dn Translocation Pathogenic
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 1:97915614-97915614 1:97450058-97450058
3 46;X;inv(X)(q26q28)dn inversion Uncertain significance
4 GNS NM_002076.4(GNS): c.1594C> G (p.Pro532Ala) single nucleotide variant Uncertain significance 12:65110586-65110586 12:64716806-64716806

Expression for Obsolete: Brachydactyly of Toes

Search GEO for disease gene expression data for Obsolete: Brachydactyly of Toes.

Pathways for Obsolete: Brachydactyly of Toes

GO Terms for Obsolete: Brachydactyly of Toes

Sources for Obsolete: Brachydactyly of Toes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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