MCID: MYT001
MIFTS: 20

Myotonic Cataract

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Myotonic Cataract

MalaCards integrated aliases for Myotonic Cataract:

Name: Myotonic Cataract 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:82
ICD9CM 34 366.43
NCIt 50 C34833
SNOMED-CT 67 64741003
UMLS 70 C0027128

Summaries for Myotonic Cataract

Disease Ontology : 12 A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy.

MalaCards based summary : Myotonic Cataract is related to cataract and marcus gunn phenomenon. An important gene associated with Myotonic Cataract is DMPK (DM1 Protein Kinase). Affiliated tissues include eye and pancreas.

Related Diseases for Myotonic Cataract

Diseases related to Myotonic Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 cataract 10.1
2 marcus gunn phenomenon 10.0 PHOX2A KIF21A
3 hypotropia 10.0 PHOX2A KIF21A
4 fibrosis of extraocular muscles, congenital, 2 10.0 PHOX2A KIF21A
5 paralytic squint 10.0 PHOX2A KIF21A
6 hypertropia 10.0 PHOX2A KIF21A
7 lagophthalmos 10.0 PHOX2A KIF21A
8 microphthalmia, isolated 5 10.0 PHOX2A KIF21A
9 partial third-nerve palsy 10.0 PHOX2A KIF21A
10 orbital disease 10.0 PHOX2A KIF21A
11 duane-radial ray syndrome 10.0 PHOX2A KIF21A
12 exotropia 10.0 PHOX2A KIF21A
13 muscle tissue disease 10.0 POLG DMPK
14 muscular disease 9.9 POLG DMPK
15 congenital ptosis 9.9 PHOX2A KIF21A
16 esotropia 9.9 PHOX2A KIF21A
17 tukel syndrome 9.9 PHOX2A KIF21A
18 duane retraction syndrome 9.9 PHOX2A KIF21A
19 keratitis, hereditary 9.9 PHOX2A KIF21A
20 polg-related disorders 9.9 TWNK POLG
21 ataxia neuropathy spectrum 9.9 TWNK POLG
22 myotonic dystrophy 9.9
23 myotonia 9.9
24 mitochondrial dna maintenance defects 9.9 TWNK POLG
25 mitochondrial complex iii deficiency, nuclear type 2 9.9 TWNK POLG
26 mitochondrial dna depletion syndrome 6 9.9 TWNK POLG
27 huntington disease-like 2 9.9 TWNK DMPK
28 mitochondrial dna depletion syndrome 9.9 TWNK POLG
29 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9 TWNK POLG
30 dysphagia 9.9 TWNK POLG
31 pearson marrow-pancreas syndrome 9.9 TWNK POLG
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9 TWNK POLG
33 neuropathy, ataxia, and retinitis pigmentosa 9.9 TWNK POLG
34 mitochondrial dna depletion syndrome 7 9.9 TWNK POLG
35 autosomal dominant progressive external ophthalmoplegia 9.8 TWNK POLG
36 spinocerebellar ataxia 8 9.8 TWNK DMPK
37 mitochondrial dna depletion syndrome 3 9.8 TWNK POLG
38 diabetic polyneuropathy 9.8 TWNK POLG
39 mitochondrial dna depletion syndrome 4b 9.8 TWNK POLG
40 mitochondrial metabolism disease 9.8 TWNK POLG
41 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 TWNK POLG
42 mitochondrial dna depletion syndrome 4a 9.8 TWNK POLG
43 chronic progressive external ophthalmoplegia 9.8 TWNK POLG
44 myoclonic epilepsy associated with ragged-red fibers 9.8 TWNK POLG
45 axonal neuropathy 9.8 TWNK POLG
46 early myoclonic encephalopathy 9.8 TWNK POLG
47 cerebellar disease 9.7 TWNK POLG
48 optic nerve disease 9.7 TWNK POLG
49 dentatorubral-pallidoluysian atrophy 9.7 TWNK POLG
50 mitochondrial encephalomyopathy 9.7 TWNK POLG

Graphical network of the top 20 diseases related to Myotonic Cataract:



Diseases related to Myotonic Cataract

Symptoms & Phenotypes for Myotonic Cataract

Drugs & Therapeutics for Myotonic Cataract

Search Clinical Trials , NIH Clinical Center for Myotonic Cataract

Genetic Tests for Myotonic Cataract

Anatomical Context for Myotonic Cataract

MalaCards organs/tissues related to Myotonic Cataract:

40
Eye, Pancreas

Publications for Myotonic Cataract

Articles related to Myotonic Cataract:

# Title Authors PMID Year
1
[Myotonic dystrophy Curschmann-Steinert]. 61
17260325 2007
2
Reassessment of the specificity of lens opacities in myotonic dystrophy. 61
8878185 1996
3
[Demonstration of myotonic cataract with Scheimpflug photography]. 61
6479800 1984
4
Cataracts in myotonic dystrophy. 61
6655188 1983
5
[Screening for heterozygotes in a large family suffering from Steinert's disease with varying clinical manifestations (author's transl)]. 61
739261 1978
6
[2 unusual cases of myotonic dystrophy, the first presenting as Thomsen's disease, the second with pharyngoesophageal motility disorders leading to broncho-pulmonary complications]. 61
1165478 1975
7
[Case report on myotonic cataract]. 61
5033832 1972
8
[Myotonia dystrophica and myotonic cataract]. 61
14848884 1951

Variations for Myotonic Cataract

Expression for Myotonic Cataract

Search GEO for disease gene expression data for Myotonic Cataract.

Pathways for Myotonic Cataract

GO Terms for Myotonic Cataract

Cellular components related to Myotonic Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 TWNK POLG

Biological processes related to Myotonic Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 TWNK POLG
2 cellular response to glucose stimulus GO:0071333 8.96 TWNK POLG
3 mitochondrial DNA replication GO:0006264 8.62 TWNK POLG

Molecular functions related to Myotonic Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 TWNK POLG

Sources for Myotonic Cataract

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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