MCID: NNP012
MIFTS: 17

Nanophthalmos 4

Categories: Genetic diseases

Aliases & Classifications for Nanophthalmos 4

MalaCards integrated aliases for Nanophthalmos 4:

Name: Nanophthalmos 4 57 75 29 6 73
Nanophthalmia 4 57 75
Nno4 57 75
Nanophthalmos, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
nanophthalmos 4:
Inheritance autosomal dominant inheritance


Classifications:



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)

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 retina and eye, and related phenotypes are visual impairment and microphthalmia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
bilateral decreased axial length
bilateral hyperopia
angle-closure glaucoma (in some patients)
decreased visual acuity (in some patients)
thickened sclera (in some patients)
more

Clinical features from OMIM:

615972

Human phenotypes related to Nanophthalmos 4:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 occasional (7.5%) HP:0000505
2 microphthalmia 32 HP:0000568
3 reduced visual acuity 32 occasional (7.5%) HP:0007663
4 optic disc drusen 32 occasional (7.5%) HP:0012426

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:

41
Retina, Eye

Publications for Nanophthalmos 4

Variations for Nanophthalmos 4

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

75
# Symbol AA change Variation ID SNP ID
1 TMEM98 p.Ala193Pro VAR_071807 rs587777690

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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