NNO2
MCID: NNP011
MIFTS: 23

Nanophthalmos 2 (NNO2)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Nanophthalmos 2

MalaCards integrated aliases for Nanophthalmos 2:

Name: Nanophthalmos 2 58 76 30 13 6 74
Nanophthalmos, Autosomal Recessive 58 76
Nanophthalmia 2 58 76
Nno2 58 76
Nanophthalmos, Type 2 41

Characteristics:

HPO:

33
nanophthalmos 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 609549
MeSH 45 D008850
MedGen 43 C1836006
SNOMED-CT via HPO 70 204108000 258211005 61142002
UMLS 74 C1836006

Summaries for Nanophthalmos 2

UniProtKB/Swiss-Prot : 76 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 microphthalmia, isolated 5 and microphthalmia, isolated 6. 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)

Description from OMIM: 609549

Related Diseases for Nanophthalmos 2

Diseases in the Nanophthalmos 2 family:

Nanophthalmos 1 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 microphthalmia, isolated 5 9.7 C1QTNF5 MFRP
2 microphthalmia, isolated 6 9.7 C1QTNF5 MFRP
3 late-onset retinal degeneration 9.7 C1QTNF5 MFRP
4 retinal degeneration 9.6 C1QTNF5 MFRP
5 fundus dystrophy 9.5 C1QTNF5 MFRP

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:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 HP:0000568

Clinical features from OMIM:

609549

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.91 C1QTNF5 MFRP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 C1QTNF5 MFRP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.91 C1QTNF5 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 C1QTNF5 MFRP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.83 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 C1QTNF5 MFRP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.83 C1QTNF5 MFRP

MGI Mouse Phenotypes related to Nanophthalmos 2:

47
# 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 30 MFRP

Anatomical Context for Nanophthalmos 2

MalaCards organs/tissues related to Nanophthalmos 2:

42
Eye

Publications for Nanophthalmos 2

Articles related to Nanophthalmos 2:

# Title Authors Year
1
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. ( 22605927 )
2012
2
Looking for high energy density compounds applicable for propellant among the derivatives of DPO with -N3, -ONO2, and -NNO2 groups. ( 20941730 )
2011
3
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. ( 20361016 )
2010
4
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. ( 19753314 )
2009
5
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. ( 18554571 )
2008
6
Solvation-induced cluster anion core switching from NNO2(-)(N2O)n-1 to O(-)(N2O)n. ( 18681650 )
2008
7
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. ( 17167404 )
2006
8
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. ( 15976030 )
2005
9
Familial nanophthalmos. ( 1258954 )
1976

Variations for Nanophthalmos 2

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

76
# Symbol AA change Variation ID SNP ID
1 MFRP p.Ile182Thr VAR_025694 rs121908190

ClinVar genetic disease variations for Nanophthalmos 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MFRP NM_031433.3(MFRP): c.1150dupC (p.His384Profs) duplication Pathogenic rs587776595 GRCh37 Chromosome 11, 119213688: 119213688
2 MFRP NM_031433.3(MFRP): c.1150dupC (p.His384Profs) duplication Pathogenic rs587776595 GRCh38 Chromosome 11, 119342978: 119342978
3 MFRP NM_031433.3(MFRP): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic rs121908189 GRCh37 Chromosome 11, 119216248: 119216248
4 MFRP NM_031433.3(MFRP): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic rs121908189 GRCh38 Chromosome 11, 119345538: 119345538
5 MFRP NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh37 Chromosome 11, 119216273: 119216273
6 MFRP NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh38 Chromosome 11, 119345563: 119345563
7 MFRP NM_031433.3(MFRP): c.545T> C (p.Ile182Thr) single nucleotide variant Pathogenic rs121908190 GRCh37 Chromosome 11, 119216226: 119216226
8 MFRP NM_031433.3(MFRP): c.545T> C (p.Ile182Thr) single nucleotide variant Pathogenic rs121908190 GRCh38 Chromosome 11, 119345516: 119345516

Expression for Nanophthalmos 2

Search GEO for disease gene expression data for Nanophthalmos 2.

Pathways for Nanophthalmos 2

GO Terms for Nanophthalmos 2

Cellular components related to Nanophthalmos 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 C1QTNF5 MFRP

Sources for Nanophthalmos 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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