NNO4
MCID: NNP012
MIFTS: 19

Nanophthalmos 4 (NNO4)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Nanophthalmos 4

MalaCards integrated aliases for Nanophthalmos 4:

Name: Nanophthalmos 4 58 76 30 6 74
Nanophthalmia 4 58 76
Nno4 58 76
Nanophthalmos, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
features based on one australian/uk family with tmem98 mutation (last curated august 2014)


HPO:

33
nanophthalmos 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615972
MeSH 45 D008850
UMLS 74 C4014848

Summaries for Nanophthalmos 4

OMIM : 58 Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by Awadalla et al., 2014). For a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165). (615972)

MalaCards based summary : Nanophthalmos 4, is also known as nanophthalmia 4. An important gene associated with Nanophthalmos 4 is TMEM98 (Transmembrane Protein 98). Affiliated tissues include eye and retina, and related phenotypes are reduced visual acuity and optic disc drusen

UniProtKB/Swiss-Prot : 76 Nanophthalmos 4: A rare disorder of eye development characterized by extreme hyperopia (farsightedness) and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina.

Related Diseases for Nanophthalmos 4

Diseases in the Nanophthalmos 2 family:

Nanophthalmos 1 Nanophthalmos 3
Nanophthalmos 4

Symptoms & Phenotypes for Nanophthalmos 4

Human phenotypes related to Nanophthalmos 4:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 occasional (7.5%) HP:0007663
2 optic disc drusen 33 occasional (7.5%) HP:0012426
3 microphthalmia 33 HP:0000568

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity (in some patients)
angle-closure glaucoma (in some patients)
optic disc drusen (in some patients)
bilateral decreased axial length
bilateral hyperopia
more

Clinical features from OMIM:

615972

Drugs & Therapeutics for Nanophthalmos 4

Search Clinical Trials , NIH Clinical Center for Nanophthalmos 4

Genetic Tests for Nanophthalmos 4

Genetic tests related to Nanophthalmos 4:

# Genetic test Affiliating Genes
1 Nanophthalmos 4 30 TMEM98

Anatomical Context for Nanophthalmos 4

MalaCards organs/tissues related to Nanophthalmos 4:

42
Eye, Retina

Publications for Nanophthalmos 4

Articles related to Nanophthalmos 4:

# Title Authors Year
1
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. ( 26392740 )
2015
2
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. ( 24852644 )
2014

Variations for Nanophthalmos 4

UniProtKB/Swiss-Prot genetic disease variations for Nanophthalmos 4:

76
# Symbol AA change Variation ID SNP ID
1 TMEM98 p.Ala193Pro VAR_071807 rs587777690
2 TMEM98 p.His196Pro VAR_081643

ClinVar genetic disease variations for Nanophthalmos 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM98 NM_015544.2(TMEM98): c.577G> C (p.Ala193Pro) single nucleotide variant Pathogenic rs587777690 GRCh37 Chromosome 17, 31267907: 31267907
2 TMEM98 NM_015544.2(TMEM98): c.577G> C (p.Ala193Pro) single nucleotide variant Pathogenic rs587777690 GRCh38 Chromosome 17, 32940889: 32940889
3 TMEM98 NM_015544.2(TMEM98): c.587A> C (p.His196Pro) single nucleotide variant Pathogenic rs869312733 GRCh38 Chromosome 17, 32940899: 32940899
4 TMEM98 NM_015544.2(TMEM98): c.587A> C (p.His196Pro) single nucleotide variant Pathogenic rs869312733 GRCh37 Chromosome 17, 31267917: 31267917
5 TMEM98 NM_015544.2(TMEM98): c.236_263+6del34 deletion Pathogenic rs869312734 GRCh37 Chromosome 17, 31260296: 31260329
6 TMEM98 NM_015544.2(TMEM98): c.236_263+6del34 deletion Pathogenic rs869312734 GRCh38 Chromosome 17, 32933278: 32933311

Expression for Nanophthalmos 4

Search GEO for disease gene expression data for Nanophthalmos 4.

Pathways for Nanophthalmos 4

GO Terms for Nanophthalmos 4

Sources for Nanophthalmos 4

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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