MCID: RRS002
MIFTS: 20

Rare Isolated Myopia

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Rare Isolated Myopia

MalaCards integrated aliases for Rare Isolated Myopia:

Name: Rare Isolated Myopia 59 6

Characteristics:

Orphanet epidemiological data:

59
rare isolated myopia
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98619
UMLS via Orphanet 74 C0027092

Summaries for Rare Isolated Myopia

MalaCards based summary : Rare Isolated Myopia is related to idiopathic scoliosis and pectus carinatum. An important gene associated with Rare Isolated Myopia is FBN1 (Fibrillin 1), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include eye, and related phenotypes are behavior/neurological and cellular

Related Diseases for Rare Isolated Myopia

Diseases related to Rare Isolated Myopia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 10.0 CHD7 FBN1
2 pectus carinatum 10.0 COL2A1 FBN1
3 refractive error 10.0 LRPAP1 SCO2
4 lens subluxation 9.9 FBN1 P3H2
5 strabismus 9.8 COL2A1 TYR
6 vitreoretinal degeneration 9.8 COL2A1 P3H2
7 scoliosis 9.8 CHD7 COL2A1 FBN1
8 brachydactyly 9.8 COL2A1 FBN1
9 myopia 9.0 CHD7 COL2A1 FBN1 LRPAP1 P3H2 SCO2

Graphical network of the top 20 diseases related to Rare Isolated Myopia:



Diseases related to Rare Isolated Myopia

Symptoms & Phenotypes for Rare Isolated Myopia

MGI Mouse Phenotypes related to Rare Isolated Myopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 CHD7 COL2A1 FBN1 LRPAP1 SCO2 TYR
2 cellular MP:0005384 9.93 CHD7 COL2A1 FBN1 LRPAP1 SCO2 TYR
3 homeostasis/metabolism MP:0005376 9.91 CHD7 COL2A1 FBN1 LRPAP1 P3H2 SCO2
4 embryo MP:0005380 9.8 CHD7 COL2A1 FBN1 SCO2 TYR
5 mortality/aging MP:0010768 9.8 CHD7 COL2A1 FBN1 LRPAP1 P3H2 SCO2
6 craniofacial MP:0005382 9.73 CHD7 COL2A1 FBN1 TYR
7 limbs/digits/tail MP:0005371 9.62 CHD7 COL2A1 FBN1 TYR
8 renal/urinary system MP:0005367 9.46 COL2A1 FBN1 LRPAP1 TYR
9 skeleton MP:0005390 9.35 CHD7 COL2A1 FBN1 P3H2 TYR
10 vision/eye MP:0005391 8.92 CHD7 COL2A1 P3H2 TYR

Drugs & Therapeutics for Rare Isolated Myopia

Search Clinical Trials , NIH Clinical Center for Rare Isolated Myopia

Genetic Tests for Rare Isolated Myopia

Anatomical Context for Rare Isolated Myopia

MalaCards organs/tissues related to Rare Isolated Myopia:

41
Eye

Publications for Rare Isolated Myopia

Variations for Rare Isolated Myopia

ClinVar genetic disease variations for Rare Isolated Myopia:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
2 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
3 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh37 Chromosome 12, 48373317: 48373317
4 COL2A1 NM_033150.2(COL2A1): c.2503C> T (p.Arg835Cys) single nucleotide variant Pathogenic rs121912882 GRCh38 Chromosome 12, 47979534: 47979534
5 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh37 Chromosome 4, 186066174: 186066174
6 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh38 Chromosome 4, 185145020: 185145020
7 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
8 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
9 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh37 Chromosome 11, 47433573: 47433573
10 SLC39A13 NM_152264.4(SLC39A13): c.398C> T (p.Thr133Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140574574 GRCh38 Chromosome 11, 47412022: 47412022
11 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh37 Chromosome 2, 227924184: 227924184
12 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh38 Chromosome 2, 227059468: 227059468
13 RSRC2 NM_023012.5(RSRC2): c.425G> A (p.Arg142Gln) single nucleotide variant Likely pathogenic rs752134549 GRCh37 Chromosome 12, 123001951: 123001951
14 RSRC2 NM_023012.5(RSRC2): c.425G> A (p.Arg142Gln) single nucleotide variant Likely pathogenic rs752134549 GRCh38 Chromosome 12, 122517404: 122517404
15 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh38 Chromosome 16, 88427940: 88427940
16 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh37 Chromosome 16, 88494348: 88494348
17 MT-TL1 NC_012920.1: m.3275C> T single nucleotide variant Uncertain significance rs1057516057 GRCh37 Chromosome MT, 3275: 3275
18 MT-TL1 NC_012920.1: m.3275C> T single nucleotide variant Uncertain significance rs1057516057 GRCh38 Chromosome MT, 3275: 3275
19 POGZ NM_015100.3(POGZ): c.402_409dupTGCCAATC (p.His137Leufs) duplication Likely pathogenic rs1057518799 GRCh38 Chromosome 1, 151430716: 151430723
20 POGZ NM_015100.3(POGZ): c.402_409dupTGCCAATC (p.His137Leufs) duplication Likely pathogenic rs1057518799 GRCh37 Chromosome 1, 151403192: 151403199
21 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
22 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh38 Chromosome 8, 60854479: 60854479
23 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742
24 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh37 Chromosome 15, 48722939: 48722939
25 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh37 Chromosome 15, 48805853: 48805853
26 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh38 Chromosome 15, 48513656: 48513656
27 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
28 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
29 MYH11 NM_001040113.1(MYH11): c.4381G> C (p.Asp1461His) single nucleotide variant Likely pathogenic rs1057518938 GRCh38 Chromosome 16, 15724166: 15724166
30 MYH11 NM_001040113.1(MYH11): c.4381G> C (p.Asp1461His) single nucleotide variant Likely pathogenic rs1057518938 GRCh37 Chromosome 16, 15818023: 15818023
31 EP300 NM_001429.3(EP300): c.2053+4A> T single nucleotide variant Uncertain significance rs1057518889 GRCh37 Chromosome 22, 41537230: 41537230
32 EP300 NM_001429.3(EP300): c.2053+4A> T single nucleotide variant Uncertain significance rs1057518889 GRCh38 Chromosome 22, 41141226: 41141226
33 AFF2 NM_002025.3(AFF2): c.3209A> G (p.His1070Arg) single nucleotide variant Uncertain significance rs1057518785 GRCh37 Chromosome X, 148049164: 148049164
34 AFF2 NM_002025.3(AFF2): c.3209A> G (p.His1070Arg) single nucleotide variant Uncertain significance rs1057518785 GRCh38 Chromosome X, 148967634: 148967634
35 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh37 Chromosome X, 49086805: 49086805
36 CACNA1F NM_005183.3(CACNA1F): c.694A> T (p.Lys232Ter) single nucleotide variant Likely pathogenic rs1057518829 GRCh38 Chromosome X, 49230343: 49230343
37 LRPAP1 NM_002337.3(LRPAP1): c.181C> T (p.Gln61Ter) single nucleotide variant Likely pathogenic rs773243225 GRCh37 Chromosome 4, 3533959: 3533959
38 LRPAP1 NM_002337.3(LRPAP1): c.181C> T (p.Gln61Ter) single nucleotide variant Likely pathogenic rs773243225 GRCh38 Chromosome 4, 3532232: 3532232
39 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
40 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
41 COL4A4 NM_000092.4(COL4A4): c.4394G> A (p.Gly1465Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs533297350 GRCh38 Chromosome 2, 227010441: 227010441
42 COL4A4 NM_000092.4(COL4A4): c.4394G> A (p.Gly1465Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs533297350 GRCh37 Chromosome 2, 227875157: 227875157
43 TNC NM_002160.3(TNC): c.890A> G (p.Asn297Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 117849120: 117849120
44 TNC NM_002160.3(TNC): c.890A> G (p.Asn297Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 115086841: 115086841
45 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88496447: 88496447
46 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88430039: 88430039
47 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh38 Chromosome 16, 88437002: 88437002
48 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh37 Chromosome 16, 88503410: 88503410
49 subset of 22 genes:FLCN; RAI1 GRCh37/hg19 17p11.2(chr17: 16936603-18184130) copy number loss Pathogenic GRCh37 Chromosome 17, 16936603: 18184130

Expression for Rare Isolated Myopia

Search GEO for disease gene expression data for Rare Isolated Myopia.

Pathways for Rare Isolated Myopia

Pathways related to Rare Isolated Myopia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 COL2A1 FBN1 P3H2

GO Terms for Rare Isolated Myopia

Cellular components related to Rare Isolated Myopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.13 COL2A1 FBN1 P3H2
2 basement membrane GO:0005604 8.8 COL2A1 FBN1 P3H2

Biological processes related to Rare Isolated Myopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.4 CHD7 COL2A1
2 central nervous system development GO:0007417 9.37 CHD7 COL2A1
3 camera-type eye development GO:0043010 9.32 CHD7 FBN1
4 roof of mouth development GO:0060021 9.26 CHD7 COL2A1
5 inner ear morphogenesis GO:0042472 9.16 CHD7 COL2A1
6 heart morphogenesis GO:0003007 8.96 CHD7 COL2A1
7 skeletal system development GO:0001501 8.8 CHD7 COL2A1 FBN1

Molecular functions related to Rare Isolated Myopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL2A1 FBN1
2 copper ion binding GO:0005507 8.62 SCO2 TYR

Sources for Rare Isolated Myopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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