Aliases & Classifications for Nanophthalmos 2

MalaCards integrated aliases for Nanophthalmos 2:

Name: Nanophthalmos 2 57 75 29 13 6 73
Nanophthalmos, Autosomal Recessive 57 75
Nanophthalmia 2 57 75
Nno2 57 75
Nanophthalmos, Type 2 40

Characteristics:

HPO:

32
nanophthalmos 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609549
MedGen 42 C1836006
MeSH 44 D008850
SNOMED-CT via HPO 69 258211005 204108000 61142002
UMLS 73 C1836006

Summaries for Nanophthalmos 2

UniProtKB/Swiss-Prot : 75 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 9.5 C1QTNF5 MFRP
2 microphthalmia, isolated 6 9.4 C1QTNF5 MFRP
3 late-onset retinal degeneration 9.3 C1QTNF5 MFRP
4 retinal degeneration 9.2 C1QTNF5 MFRP
5 fundus dystrophy 9.0 C1QTNF5 MFRP

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



Diseases related to Nanophthalmos 2

Symptoms & Phenotypes for Nanophthalmos 2

Clinical features from OMIM:

609549

Human phenotypes related to Nanophthalmos 2:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568

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-145 9.91 C1QTNF5 MFRP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 MFRP C1QTNF5
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 MFRP C1QTNF5
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:

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:

41
Eye

Publications for Nanophthalmos 2

Variations for Nanophthalmos 2

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

75
# Symbol AA change Variation ID SNP ID
1 MFRP p.Ile182Thr VAR_025694 rs121908190

ClinVar genetic disease variations for Nanophthalmos 2:

6
(show all 14)
# 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
9 MFRP NM_031433.3(MFRP): c.642-2A> G single nucleotide variant Pathogenic rs376898612 GRCh37 Chromosome 11, 119215716: 119215716
10 MFRP NM_031433.3(MFRP): c.642-2A> G single nucleotide variant Pathogenic rs376898612 GRCh38 Chromosome 11, 119345006: 119345006
11 MFRP NM_031433.3(MFRP): c.298delG (p.Ala100Argfs) deletion Pathogenic rs750894392 GRCh37 Chromosome 11, 119216612: 119216612
12 MFRP NM_031433.3(MFRP): c.298delG (p.Ala100Argfs) deletion Pathogenic rs750894392 GRCh38 Chromosome 11, 119345902: 119345902
13 MFRP NM_031433.3(MFRP): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 119216756: 119216756
14 MFRP NM_031433.3(MFRP): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 119346046: 119346046

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
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9 Cosmic
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11 DGIdb
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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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