NNO2
MCID: NNP011
MIFTS: 26

Nanophthalmos 2 (NNO2)

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

Aliases & Classifications for Nanophthalmos 2

MalaCards integrated aliases for Nanophthalmos 2:

Name: Nanophthalmos 2 57 72 29 13 6 70
Nanophthalmos, Autosomal Recessive 57 72
Nanophthalmia 2 57 72
Nno2 57 72
Nanophthalmos, Type 2 39

Characteristics:

HPO:

31
nanophthalmos 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 609549
OMIM Phenotypic Series 57 PS600165
MeSH 44 D008850
MedGen 41 C1836006
SNOMED-CT via HPO 68 204108000 258211005 61142002
UMLS 70 C1836006

Summaries for Nanophthalmos 2

UniProtKB/Swiss-Prot : 72 Nanophthalmos 2: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.

MalaCards based summary : Nanophthalmos 2, also known as nanophthalmos, autosomal recessive, is related to nanophthalmos and microphthalmia, isolated 5. An important gene associated with Nanophthalmos 2 is MFRP (Membrane Frizzled-Related Protein). Affiliated tissues include eye, and related phenotypes are microphthalmia and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 609549 PS600165

Related Diseases for Nanophthalmos 2

Diseases in the Nanophthalmos family:

Nanophthalmos 1 Nanophthalmos 2
Nanophthalmos 3 Nanophthalmos 4

Diseases related to Nanophthalmos 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nanophthalmos 9.7 MFRP C1QTNF5
2 microphthalmia, isolated 5 9.7 MFRP C1QTNF5
3 microphthalmia, isolated 6 9.7 MFRP C1QTNF5
4 late-onset retinal degeneration 9.6 MFRP C1QTNF5
5 retinal degeneration 9.6 MFRP C1QTNF5
6 fundus dystrophy 9.5 MFRP C1QTNF5

Graphical network of the top 20 diseases related to Nanophthalmos 2:



Diseases related to Nanophthalmos 2

Symptoms & Phenotypes for Nanophthalmos 2

Human phenotypes related to Nanophthalmos 2:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 HP:0000568

Clinical features from OMIM®:

609549 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Nanophthalmos 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.96 C1QTNF5 MFRP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.96 C1QTNF5 MFRP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.62 C1QTNF5 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 C1QTNF5 MFRP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.62 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.62 C1QTNF5 MFRP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.62 C1QTNF5 MFRP

MGI Mouse Phenotypes related to Nanophthalmos 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 C1QTNF5 MFRP

Drugs & Therapeutics for Nanophthalmos 2

Search Clinical Trials , NIH Clinical Center for Nanophthalmos 2

Genetic Tests for Nanophthalmos 2

Genetic tests related to Nanophthalmos 2:

# Genetic test Affiliating Genes
1 Nanophthalmos 2 29 MFRP

Anatomical Context for Nanophthalmos 2

MalaCards organs/tissues related to Nanophthalmos 2:

40
Eye

Publications for Nanophthalmos 2

Articles related to Nanophthalmos 2:

(show all 21)
# Title Authors PMID Year
1
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 6 57
15976030 2005
2
Familial nanophthalmos. 57 6
1258954 1976
3
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 6
32996714 2020
4
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 6
22605927 2012
5
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 6
20361016 2010
6
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 6
19753314 2009
7
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 6
18554571 2008
8
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 6
17167404 2006
9
A high-selectivity fluorescent probe for hypoxia imaging in cells and a tumor-bearing mouse model. 61
32009140 2020
10
Nitrogen and Oxygen Isotope Effects of Ammonia Oxidation by Thermophilic Thaumarchaeota from a Geothermal Water Stream. 61
27208107 2016
11
Multi-species measurements of nitrogen isotopic composition reveal the spatial constraints and biological drivers of ammonium attenuation across a highly contaminated groundwater system. 61
27124126 2016
12
Infrared spectroscopic studies on the cluster size dependence of charge carrier structure in nitrous oxide cluster anions. 61
26979688 2016
13
Looking for high energy density compounds applicable for propellant among the derivatives of DPO with -N3, -ONO2, and -NNO2 groups. 61
20941730 2011
14
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 61
19526372 2009
15
Molecular features of neonicotinoid pharmacophore variants interacting with the insect nicotinic receptor. 61
19178134 2009
16
Solvation-induced cluster anion core switching from NNO2(-)(N2O)n-1 to O(-)(N2O)n. 61
18681650 2008
17
Insecticidal and neuroblocking potencies of variants of the imidazolidine moiety of imidacloprid-related neonicotinoids and the relationship to partition coefficient and charge density on the pharmacophore. 61
17263479 2007
18
[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers]. 61
15259979 2004
19
Structure of N,4-dinitroaniline and its complex with sulfolane at 85 K; on the proton donor-acceptor affinity of the primary nitramine (HNNO2) group. 61
11818658 2002
20
[Histological observations on the sclera in uveal effusion]. 61
8475840 1993
21
The effects of short-chain phospholipids on the acetylcholine-activated ion channel. 61
2041726 1991

Variations for Nanophthalmos 2

ClinVar genetic disease variations for Nanophthalmos 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1150dup (p.His384fs) Duplication Pathogenic 4474 rs587776595 GRCh37: 11:119213687-119213688
GRCh38: 11:119342977-119342978
2 C1QTNF5 , MFRP NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) SNV Pathogenic 4475 rs121908189 GRCh37: 11:119216248-119216248
GRCh38: 11:119345538-119345538
3 C1QTNF5 , MFRP NM_031433.4(MFRP):c.498del (p.Asn167fs) Deletion Pathogenic 4476 rs587776596 GRCh37: 11:119216273-119216273
GRCh38: 11:119345563-119345563
4 C1QTNF5 , MFRP NM_031433.4(MFRP):c.545T>C (p.Ile182Thr) SNV Pathogenic 4477 rs121908190 GRCh37: 11:119216226-119216226
GRCh38: 11:119345516-119345516
5 C1QTNF5 , MFRP NM_031433.4(MFRP):c.497C>T (p.Pro166Leu) SNV Pathogenic 915447 GRCh37: 11:119216274-119216274
GRCh38: 11:119345564-119345564
6 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1180G>A (p.Val394Met) SNV Pathogenic 915449 GRCh37: 11:119213658-119213658
GRCh38: 11:119342948-119342948
7 C1QTNF5 , MFRP NM_031433.4(MFRP):c.899-3C>A SNV Pathogenic 915451 GRCh37: 11:119215104-119215104
GRCh38: 11:119344394-119344394

UniProtKB/Swiss-Prot genetic disease variations for Nanophthalmos 2:

72
# Symbol AA change Variation ID SNP ID
1 MFRP p.Ile182Thr VAR_025694 rs121908190

Expression for Nanophthalmos 2

Search GEO for disease gene expression data for Nanophthalmos 2.

Pathways for Nanophthalmos 2

GO Terms for Nanophthalmos 2

Sources for Nanophthalmos 2

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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