MCID: INT008
MIFTS: 17

Intermittent Squint

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Intermittent Squint

MalaCards integrated aliases for Intermittent Squint:

Name: Intermittent Squint 12 15
Intermittent Heterotropia 12 32
Intermittent Tropia 71

Classifications:



External Ids:

Disease Ontology 12 DOID:1942
ICD9CM 34 378.2 378.20
SNOMED-CT 67 74025007
ICD10 32 H50.3 H50.30
UMLS 71 C0152210

Summaries for Intermittent Squint

MalaCards based summary : Intermittent Squint, also known as intermittent heterotropia, is related to isolated atp synthase deficiency and 3-methylglutaconic aciduria. An important gene associated with Intermittent Squint is MRI1 (Methylthioribose-1-Phosphate Isomerase 1), and among its related pathways/superpathways are purine nucleotides de novo biosynthesis and Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics. Affiliated tissues include eye.

Related Diseases for Intermittent Squint

Diseases related to Intermittent Squint via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated atp synthase deficiency 9.4 ATPAF2 ATP5F1D
2 3-methylglutaconic aciduria 9.2 ATPAF2 ATP5F1D

Symptoms & Phenotypes for Intermittent Squint

Drugs & Therapeutics for Intermittent Squint

Search Clinical Trials , NIH Clinical Center for Intermittent Squint

Genetic Tests for Intermittent Squint

Anatomical Context for Intermittent Squint

MalaCards organs/tissues related to Intermittent Squint:

40
Eye

Publications for Intermittent Squint

Articles related to Intermittent Squint:

# Title Authors PMID Year
1
Malignant Hypertensive Retinopathy in an Infant with Mid-Aortic Occlusion. 61
27795862 2016
2
[Orthoptic treatment efficiency in convergence insufficiency treatment]. 61
11915694 2001

Variations for Intermittent Squint

Expression for Intermittent Squint

Search GEO for disease gene expression data for Intermittent Squint.

Pathways for Intermittent Squint

GO Terms for Intermittent Squint

Cellular components related to Intermittent Squint according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.62 NDUFB10 ATPAF2 ATP5F1D ATP5F1C
2 mitochondrial inner membrane GO:0005743 9.43 NDUFB10 ATP5F1D ATP5F1C
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.16 ATP5F1D ATP5F1C
4 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 8.96 ATP5F1D ATP5F1C
5 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) GO:0000275 8.62 ATP5F1D ATP5F1C

Biological processes related to Intermittent Squint according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cristae formation GO:0042407 9.32 ATP5F1D ATP5F1C
2 ATP biosynthetic process GO:0006754 9.26 ATP5F1D ATP5F1C
3 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 ATP5F1D ATP5F1C
4 ATP synthesis coupled proton transport GO:0015986 8.96 ATP5F1D ATP5F1C
5 oxidative phosphorylation GO:0006119 8.62 ATP5F1D ATP5F1C

Molecular functions related to Intermittent Squint according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.96 ATP5F1D ATP5F1C
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.62 ATP5F1D ATP5F1C

Sources for Intermittent Squint

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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