NNO4
MCID: NNP012
MIFTS: 24

Nanophthalmos 4 (NNO4)

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

Aliases & Classifications for Nanophthalmos 4

MalaCards integrated aliases for Nanophthalmos 4:

Name: Nanophthalmos 4 57 72 29 6 70
Nanophthalmia 4 57 72
Nno4 57 72
Nanophthalmos, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
nanophthalmos 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615972
OMIM Phenotypic Series 57 PS600165
MeSH 44 D008850
UMLS 70 C4014848

Summaries for Nanophthalmos 4

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Nanophthalmos 4, also known as nanophthalmia 4, is related to intraocular pressure quantitative trait locus and helix syndrome. 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 : 72 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 family:

Nanophthalmos 1 Nanophthalmos 2
Nanophthalmos 3 Nanophthalmos 4

Diseases related to Nanophthalmos 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intraocular pressure quantitative trait locus 9.9
2 helix syndrome 9.9
3 nanophthalmos 9.9

Symptoms & Phenotypes for Nanophthalmos 4

Human phenotypes related to Nanophthalmos 4:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 occasional (7.5%) HP:0007663
2 optic disc drusen 31 occasional (7.5%) HP:0012426
3 microphthalmia 31 HP:0000568

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 TMEM98

Anatomical Context for Nanophthalmos 4

MalaCards organs/tissues related to Nanophthalmos 4:

40
Eye, Retina

Publications for Nanophthalmos 4

Articles related to Nanophthalmos 4:

# Title Authors PMID Year
1
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 6 57
26392740 2015
2
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 6 57
24852644 2014
3
A novel locus for congenital simple microphthalmia family mapping to 17p12-q12. 57
21345985 2011
4
Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China. 57
19452014 2009
5
A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity. 61
33596443 2021

Variations for Nanophthalmos 4

ClinVar genetic disease variations for Nanophthalmos 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM98 NM_015544.3(TMEM98):c.577G>C (p.Ala193Pro) SNV Pathogenic 155721 rs587777690 GRCh37: 17:31267907-31267907
GRCh38: 17:32940889-32940889
2 TMEM98 NM_015544.3(TMEM98):c.236_263+6del Deletion Pathogenic 224332 rs869312734 GRCh37: 17:31260294-31260327
GRCh38: 17:32933276-32933309
3 TMEM98 NM_015544.3(TMEM98):c.587A>C (p.His196Pro) SNV Pathogenic 224331 rs869312733 GRCh37: 17:31267917-31267917
GRCh38: 17:32940899-32940899
4 overlap with 14 genes GRCh37/hg19 17q11.2-12(chr17:29989741-32355632) copy number loss Pathogenic 981056 GRCh37: 17:29989741-32355632
GRCh38:
5 TMEM98 NM_015544.3(TMEM98):c.568_569del (p.Leu190fs) Microsatellite Pathogenic 1030513 GRCh37: 17:31267895-31267896
GRCh38: 17:32940877-32940878

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

72
# Symbol AA change Variation ID SNP ID
1 TMEM98 p.Ala193Pro VAR_071807 rs587777690
2 TMEM98 p.His196Pro VAR_081643 rs869312733

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
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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