NNO1
MCID: NNP017
MIFTS: 21

Nanophthalmos 1 (NNO1)

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

Aliases & Classifications for Nanophthalmos 1

MalaCards integrated aliases for Nanophthalmos 1:

Name: Nanophthalmos 1 57 29 13 6 70
Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma 57
Microphthalmos, Simple, Autosomal Dominant 57
Nanophthalmos, Autosomal Dominant 57
Nanophthalmia 1 57
Nanophthalmos-1 57
Nno1 57

Characteristics:

OMIM®:

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


HPO:

31
nanophthalmos 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600165
OMIM Phenotypic Series 57 PS600165
MedGen 41 C1838502
SNOMED-CT via HPO 68 263681008
UMLS 70 C1838502

Summaries for Nanophthalmos 1

OMIM® : 57 Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by Othman et al., 1998). (600165) (Updated 20-May-2021)

MalaCards based summary : Nanophthalmos 1, also known as nanophthalmos with high hyperopia and angle-closure glaucoma, is related to nanophthalmos and nanophthalmos 4. An important gene associated with Nanophthalmos 1 is MYRF (Myelin Regulatory Factor). Affiliated tissues include eye, and related phenotype is bilateral microphthalmos.

Related Diseases for Nanophthalmos 1

Diseases in the Nanophthalmos family:

Nanophthalmos 1 Nanophthalmos 2
Nanophthalmos 3 Nanophthalmos 4

Diseases related to Nanophthalmos 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nanophthalmos 30.9 NNO1 MYRF
2 nanophthalmos 4 11.0
3 intraocular pressure quantitative trait locus 9.9
4 farsightedness 9.9

Symptoms & Phenotypes for Nanophthalmos 1

Human phenotypes related to Nanophthalmos 1:

31
# Description HPO Frequency HPO Source Accession
1 bilateral microphthalmos 31 HP:0007633

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
bilateral microphthalmos

Clinical features from OMIM®:

600165 (Updated 20-May-2021)

Drugs & Therapeutics for Nanophthalmos 1

Search Clinical Trials , NIH Clinical Center for Nanophthalmos 1

Genetic Tests for Nanophthalmos 1

Genetic tests related to Nanophthalmos 1:

# Genetic test Affiliating Genes
1 Nanophthalmos 1 29

Anatomical Context for Nanophthalmos 1

MalaCards organs/tissues related to Nanophthalmos 1:

40
Eye

Publications for Nanophthalmos 1

Articles related to Nanophthalmos 1:

(show all 13)
# Title Authors PMID Year
1
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. 57 61
9792868 1998
2
Abnormal foveal avascular zone in nanophthalmos. 57
17524786 2007
3
Hereditary high hypermetropia in the Faroe Islands. 57
15823920 2005
4
Management of strabismus in nanophthalmic patients: a long-term follow-up report. 57
12799252 2003
5
Abnormal collagen fibrils in nanophthalmos: a clinical and histologic study. 57
9933017 1999
6
Classification of microphthalmos and coloboma. 57
8411053 1993
7
Simple microphthalmos. 57
2818284 1989
8
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 61
31048900 2019
9
Research progress on human genes involved in the pathogenesis of glaucoma (Review). 61
29845210 2018
10
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 61
19526372 2009
11
[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers]. 61
15259979 2004
12
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 61
12543751 2003
13
A novel keratocan mutation causing autosomal recessive cornea plana. 61
11726611 2001

Variations for Nanophthalmos 1

ClinVar genetic disease variations for Nanophthalmos 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYRF NM_013279.4(MYRF):c.3241del (p.Arg1081fs) Deletion Pathogenic 635185 rs1591137064 GRCh37: 11:61553331-61553331
GRCh38: 11:61785859-61785859

Expression for Nanophthalmos 1

Search GEO for disease gene expression data for Nanophthalmos 1.

Pathways for Nanophthalmos 1

GO Terms for Nanophthalmos 1

Sources for Nanophthalmos 1

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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