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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:82
ICD9CM 34 366.43
NCIt 49 C34833
SNOMED-CT 67 64741003
UMLS 71 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 marcus gunn phenomenon and fibrosis of extraocular muscles, congenital, 2. An important gene associated with Myotonic Cataract is KIF21A (Kinesin Family Member 21A). Affiliated tissues include eye.

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 65)
# Related Disease Score Top Affiliating Genes
1 marcus gunn phenomenon 10.3 PHOX2A KIF21A
2 fibrosis of extraocular muscles, congenital, 2 10.3 PHOX2A KIF21A
3 hypotropia 10.2 PHOX2A KIF21A
4 paralytic squint 10.2 PHOX2A KIF21A
5 microphthalmia, isolated 5 10.2 PHOX2A KIF21A
6 hypertropia 10.2 PHOX2A KIF21A
7 orbital disease 10.2 PHOX2A KIF21A
8 exotropia 10.2 PHOX2A KIF21A
9 duane-radial ray syndrome 10.2 PHOX2A KIF21A
10 congenital ptosis 10.2 PHOX2A KIF21A
11 cataract 10.1
12 esotropia 10.1 PHOX2A KIF21A
13 tukel syndrome 10.1 PHOX2A KIF21A
14 myotonic disease 10.1 PABPN1 DMPK
15 dysphagia 10.0 TWNK PABPN1
16 duane retraction syndrome 10.0 PHOX2A KIF21A
17 amblyopia 10.0 PHOX2A KIF21A
18 oculopharyngeal muscular dystrophy 10.0 PABPN1 DMPK
19 spinocerebellar ataxia 8 10.0 TWNK DMPK
20 myotonic dystrophy 9.9
21 myotonia 9.9
22 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 9.9 NPTX2 MT-TK
23 ataxia neuropathy spectrum 9.8 TWNK POLG
24 polg-related disorders 9.8 TWNK POLG
25 keratitis, hereditary 9.7 PHOX2A KIF21A
26 mitochondrial neurogastrointestinal encephalomyopathy 9.7 TYMP POLG
27 mitochondrial dna maintenance defects 9.7 TWNK POLG
28 autosomal dominant progressive external ophthalmoplegia 9.7 TWNK POLG
29 diabetic polyneuropathy 9.6 TWNK POLG
30 autosomal dominant cerebellar ataxia 9.4 TWNK POLG DMPK
31 mitochondrial dna depletion syndrome 4b 9.4 TYMP TWNK POLG
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.4 TYMP TWNK POLG
33 mitochondrial dna depletion syndrome 6 9.4 TYMP TWNK POLG
34 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.4 TYMP TWNK POLG
35 mitochondrial dna depletion syndrome 7 9.4 TYMP TWNK POLG
36 mitochondrial dna depletion syndrome 3 9.4 TYMP TWNK POLG
37 neonatal period electroclinical syndrome 9.3 POLG NPTX2 MT-TK
38 electroclinical syndrome 9.3 POLG NPTX2 MT-TK
39 early myoclonic encephalopathy 9.3 POLG NPTX2 MT-TK
40 mitochondrial dna depletion syndrome 1 9.3 TYMP POLG MT-TK
41 cerebellar disease 9.3 POLG MT-TK
42 mitochondrial disorders 9.3 TWNK POLG MT-TK
43 muscle tissue disease 9.1 POLG PABPN1 MT-TK DMPK
44 muscular disease 9.1 POLG PABPN1 MT-TK DMPK
45 optic nerve disease 9.0 TWNK POLG NPTX2 MT-TK
46 pearson marrow-pancreas syndrome 8.6 TYMP TWNK POLG NPTX2 MT-TK
47 neuropathy, ataxia, and retinitis pigmentosa 8.6 TYMP TWNK POLG NPTX2 MT-TK
48 mitochondrial dna depletion syndrome 4a 8.6 TYMP TWNK POLG NPTX2 MT-TK
49 mitochondrial dna depletion syndrome 8.6 TYMP TWNK POLG NPTX2 MT-TK
50 chronic progressive external ophthalmoplegia 8.6 TYMP TWNK POLG NPTX2 MT-TK

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

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 cellular response to glucose stimulus GO:0071333 8.96 TWNK POLG
2 mitochondrial DNA replication GO:0006264 8.62 TWNK POLG

Sources for Myotonic Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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