MCID: NNP017
MIFTS: 16

Nanophthalmos 1

Categories: Genetic diseases

Aliases & Classifications for Nanophthalmos 1

MalaCards integrated aliases for Nanophthalmos 1:

Name: Nanophthalmos 1 57 29 73
Nanophthalmos-1 57 13
Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma 57
Microphthalmos, Simple, Autosomal Dominant 57
Nanophthalmos, Autosomal Dominant 57
Nanophthalmia 1 57
Nno1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nanophthalmos 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600165
MedGen 42 C1838502
SNOMED-CT via HPO 69 263681008
UMLS 73 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)

MalaCards based summary : Nanophthalmos 1, also known as nanophthalmos-1, is related to nanophthalmos 4 and microphthalmia. 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 11.0
2 microphthalmia 10.9

Symptoms & Phenotypes for Nanophthalmos 1

Symptoms via clinical synopsis from OMIM:

57
Eyes:
bilateral microphthalmos


Clinical features from OMIM:

600165

Human phenotypes related to Nanophthalmos 1:

32
# Description HPO Frequency HPO Source Accession
1 bilateral microphthalmos 32 HP:0007633

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:

41
Eye

Publications for Nanophthalmos 1

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 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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