NNO1
MCID: NNP017
MIFTS: 17

Nanophthalmos 1 (NNO1)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Nanophthalmos 1

MalaCards integrated aliases for Nanophthalmos 1:

Name: Nanophthalmos 1 58 30 13 74
Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma 58
Microphthalmos, Simple, Autosomal Dominant 58
Nanophthalmos, Autosomal Dominant 58
Nanophthalmia 1 58
Nanophthalmos-1 58
Nno1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
nanophthalmos 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600165
MedGen 43 C1838502
SNOMED-CT via HPO 70 263681008
UMLS 74 C1838502

Summaries for Nanophthalmos 1

OMIM : 58 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)

MalaCards based summary : Nanophthalmos 1, also known as nanophthalmos with high hyperopia and angle-closure glaucoma, is related to nanophthalmos 4 and cone-rod dystrophy and hearing loss 2. An important gene associated with Nanophthalmos 1 is NNO1 (Nanophthalmos 1). Affiliated tissues include eye, and related phenotype is bilateral microphthalmos.

Related Diseases for Nanophthalmos 1

Diseases in the Nanophthalmos 2 family:

Nanophthalmos 1 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 4 11.2
2 cone-rod dystrophy and hearing loss 2 11.1
3 microphthalmia 11.1

Symptoms & Phenotypes for Nanophthalmos 1

Human phenotypes related to Nanophthalmos 1:

33
# Description HPO Frequency HPO Source Accession
1 bilateral microphthalmos 33 HP:0007633

Symptoms via clinical synopsis from OMIM:

58
Eyes:
bilateral microphthalmos

Clinical features from OMIM:

600165

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 30

Anatomical Context for Nanophthalmos 1

MalaCards organs/tissues related to Nanophthalmos 1:

42
Eye

Publications for Nanophthalmos 1

Articles related to Nanophthalmos 1:

# Title Authors Year
1
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. ( 9792868 )
1998

Variations for Nanophthalmos 1

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
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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