MCID: NNP021
MIFTS: 36

Nanophthalmos

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nanophthalmos

MalaCards integrated aliases for Nanophthalmos:

Name: Nanophthalmos 12 58 36 6 15
Nanophthalmia 58

Characteristics:

Orphanet epidemiological data:

58
nanophthalmos
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080634
KEGG 36 H02172
ICD10 via Orphanet 33 Q11.2
Orphanet 58 ORPHA35612

Summaries for Nanophthalmos

KEGG : 36 Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, some genes and loci have been implicated in familial forms of nanophthalmos.

MalaCards based summary : Nanophthalmos, also known as nanophthalmia, is related to nanophthalmos 2 and nanophthalmos 1. An important gene associated with Nanophthalmos is TMEM98 (Transmembrane Protein 98). Affiliated tissues include eye, and related phenotypes are strabismus and glaucoma

Disease Ontology : 12 A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

Related Diseases for Nanophthalmos

Diseases in the Nanophthalmos family:

Nanophthalmos 1 Nanophthalmos 2
Nanophthalmos 3 Nanophthalmos 4

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 nanophthalmos 2 35.0 MFRP C1QTNF5
2 nanophthalmos 1 35.0 NNO1 MYRF
3 microphthalmia, isolated 5 33.2 MFRP C1QTNF5
4 microphthalmia 33.2 VSX2 PRSS56 PAX6 MFRP BEST1
5 optic disk drusen 31.4 MFRP CRB1
6 macular retinal edema 31.0 CRB1 BEST1
7 best vitelliform macular dystrophy 30.8 ROM1 BEST1
8 axenfeld-rieger syndrome 30.8 WDR36 VSX2 PAX6 KERA
9 retinal degeneration 30.7 ROM1 MFRP CRB1 C1QTNF5 BEST1
10 primary angle-closure glaucoma 30.7 VSX2 PRSS56 KERA
11 retinitis pigmentosa 30.7 VSX2 TBCE ROM1 PRSS56 PAX6 MFRP
12 microphthalmia, isolated 6 30.6 VSX2 TMEM98 PRSS56 MFRP CRB1 C1QTNF5
13 fundus dystrophy 30.5 VSX2 TMEM98 ROM1 PRSS56 PAX6 MFRP
14 macular degeneration, age-related, 1 30.3 VSX2 PAX6 CRB1 BEST1
15 lens subluxation 30.3 VSX2 PAX6
16 nanophthalmos 4 12.7
17 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.7
18 nanophthalmos 3 12.3
19 vitreoretinochoroidopathy 12.2
20 ghose sachdev kumar syndrome 11.5
21 cataract 10.7
22 intraocular pressure quantitative trait locus 10.6
23 pseudopapilledema 10.6 PRSS56 CRB1
24 fryns microphthalmia syndrome 10.6 VSX2 PAX6
25 chorioretinal scar 10.6 CRB1 BEST1
26 late-onset retinal degeneration 10.6 MFRP CRB1 C1QTNF5
27 refractive error 10.5
28 retinal detachment 10.5
29 congenital aphakia 10.5 VSX2 PAX6
30 isolated microphthalmia 10.5 VSX2 PRSS56
31 microphthalmia, isolated 3 10.5 VSX2 PAX6
32 bestrophinopathy, autosomal recessive 10.5 CRB1 BEST1
33 fundus albipunctatus 10.5 ROM1 CRB1 BEST1
34 microphthalmia, isolated 2 10.5 WDR36 VSX2 PAX6
35 keratitis, hereditary 10.5 VSX2 PAX6 BEST1
36 macular dystrophy, dominant cystoid 10.5 CRB1 BEST1
37 neuroretinitis 10.4
38 retinitis 10.4
39 inherited retinal disorder 10.4
40 hydrophthalmos 10.4 WDR36 PAX6
41 peripheral retinal degeneration 10.4 WDR36 ROM1
42 achromatopsia 10.4 PAX6 CRB1 BEST1
43 stargardt disease 10.4 ROM1 CRB1 BEST1
44 juvenile glaucoma 10.4 WDR36 PAX6
45 congenital stationary night blindness 10.4 VSX2 ROM1 CRB1 BEST1
46 farsightedness 10.4
47 retinal disease 10.4 ROM1 PAX6 CRB1 BEST1
48 hereditary retinal dystrophy 10.4 CRB1 BEST1
49 eye degenerative disease 10.3 VSX2 ROM1 PAX6 CRB1 BEST1
50 suppression amblyopia 10.3

Graphical network of the top 20 diseases related to Nanophthalmos:



Diseases related to Nanophthalmos

Symptoms & Phenotypes for Nanophthalmos

Human phenotypes related to Nanophthalmos:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
3 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
4 high hypermetropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008499
5 abnormal choroid morphology 31 hallmark (90%) HP:0000610
6 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
7 abnormality of the choroid 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nanophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.61 BEST1 C1QTNF5 CRB1 MFRP MYRF PAX6
2 vision/eye MP:0005391 9.44 BEST1 C1QTNF5 CRB1 KERA LRIT1 MFRP

Drugs & Therapeutics for Nanophthalmos

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes Active, not recruiting NCT03748732

Search NIH Clinical Center for Nanophthalmos

Genetic Tests for Nanophthalmos

Anatomical Context for Nanophthalmos

MalaCards organs/tissues related to Nanophthalmos:

40
Eye

Publications for Nanophthalmos

Articles related to Nanophthalmos:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 61 6
26392740 2015
2
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 61 6
24852644 2014
3
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 6 61
19753314 2009
4
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 6 61
18554571 2008
5
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 6 61
17167404 2006
6
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 6 61
15976030 2005
7
Familial nanophthalmos. 61 6
1258954 1976
8
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 6
22605927 2012
9
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 6
20361016 2010
10
Efficacy of toric intraocular lens implantation with high corneal astigmatism within the United Kingdom's National Health Service. 61
31844167 2020
11
Clinical spectrum and treatment outcomes of patients with nanophthalmos. 61
32461562 2020
12
Choroidal vascularity index as an indicator of vascular status of choroid, in eyes with nanophthalmos. 61
32415186 2020
13
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. 61
32052405 2020
14
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification. 61
32236127 2020
15
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 61
32118495 2020
16
Nanophthalmos in children: morphometric and clinical characterization. 61
32058088 2020
17
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. 61
31992737 2020
18
Familial Nanophthalmos Presenting with Spontaneous Uveal Effusion Syndrome. 61
30556758 2020
19
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. 61
32454992 2020
20
Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion. 61
30877130 2019
21
Transscleral cyclophotocoagulation as primary management in a nanophthalmic eye with anterior uveitis and secondary mixed mechanism glaucoma. 61
31874848 2019
22
Spontaneous malignant glaucoma: Case report and review of the literature. 61
31920452 2019
23
Serous macular detachment in nanophthalmos: A manifestation of pachychoroid spectrum. 61
31384695 2019
24
A new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells. 61
30635925 2019
25
Unmeasurable small size superficial and deep foveal avascular zone in nanophthalmos: the Collaborative Nanophthalmos OCTA Study. 61
30322954 2019
26
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse. 61
31266059 2019
27
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study. 61
31266062 2019
28
Anterior Segment Features in Nanophthalmos With Secondary Chronic Angle Closure Glaucoma: An Ultrasound Biomicroscopy Study. 61
31112609 2019
29
[Glaucoma and nanophthalmos]. 61
30552473 2019
30
Unusual rapid resolution of postsclerectomy exudative retinal detachment with topical NSAIDs therapy in a case of nanophthalmos. 61
31081412 2019
31
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 61
31048900 2019
32
The role of corneo-scleral junction in soft contact lens fitting: Case report on nanophthalmos. 61
30337141 2019
33
Foveal avascular zone area measurements with optical coherence tomography angiography in patients with nanophthalmos. 61
30315267 2019
34
Absence of the foveal avascular zone in a nanophthalmic child revealed by optical coherence tomography angiography. 61
30511032 2019
35
Consultation Section: Refractive. Unhappy patient after uneventful refractive lens exchange in nanophthalmos: March consultation #1. 61
30851812 2019
36
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. 61
31700225 2019
37
Prophylactic anterior vitrectomy during cataract surgery in eyes at increased risk for aqueous misdirection. 61
30148233 2018
38
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). 61
31047555 2018
39
Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population. 61
30348125 2018
40
Research progress on human genes involved in the pathogenesis of glaucoma (Review). 61
29845210 2018
41
The treatment of malignant glaucoma in nanophthalmos: a case report. 61
29471807 2018
42
Combined 23-G Pars Plana Vitrectomy and Lensectomy in the Management of Glaucoma Associated with Nanophthalmos. 61
28719889 2018
43
Clinical features of posterior microphthalmic and nanophthalmic eyes. 61
30450315 2018
44
Nanophthalmos: A Review of the Clinical Spectrum and Genetics. 61
29862063 2018
45
Medical therapy for bilateral uveal effusion syndrome in nanophthalmos. 61
29217039 2017
46
A Randomized Controlled Trial Comparing Outcomes of Cataract Surgery in Nanophthalmos With and Without Prophylactic Sclerostomy. 61
28911991 2017
47
Gene Therapy Restores Mfrp and Corrects Axial Eye Length. 61
29170418 2017
48
Refractive lens exchange and piggyback intraocular lens implantation in nanophthalmos: Visual and structural outcomes. 61
28991616 2017
49
Vascularisation of the anterior lens capsule in an eye with excellent visual acuity. 61
28687691 2017
50
Choroidal thickness findings in two siblings with nanophthalmos by swept source-OCT: a case report. 61
28057069 2017

Variations for Nanophthalmos

ClinVar genetic disease variations for Nanophthalmos:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFRP NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)SNV Likely pathogenic 560469 rs374823079 11:119212383-119212383 11:119341673-119341673

Expression for Nanophthalmos

Search GEO for disease gene expression data for Nanophthalmos.

Pathways for Nanophthalmos

GO Terms for Nanophthalmos

Biological processes related to Nanophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 WDR36 VSX2 ROM1 KERA BEST1
2 gene expression GO:0010467 9.43 PAX6 CRB1
3 detection of light stimulus involved in visual perception GO:0050908 9.4 CRB1 BEST1
4 retina development in camera-type eye GO:0060041 9.33 PAX6 MFRP CRB1
5 retina morphogenesis in camera-type eye GO:0060042 9.32 ROM1 CRB1
6 cornea development in camera-type eye GO:0061303 9.26 PAX6 KERA
7 visual perception GO:0007601 9.23 WDR36 VSX2 ROM1 PAX6 MFRP KERA
8 eye photoreceptor cell development GO:0042462 9.13 PAX6 MFRP CRB1

Sources for Nanophthalmos

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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