CTRCT47
MCID: CTR162
MIFTS: 22

Cataract 47 (CTRCT47)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 47

MalaCards integrated aliases for Cataract 47:

Name: Cataract 47 56 73
Cataract, Juvenile, with Microcornea and Glucosuria 73 29 13 6 39 71
Cataract 47, Juvenile, with Microcornea 56 73 29
Cataract, Juvenile, with Microcornea 56 73
Ctrct47 56 73
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly; Cjmg, Formerly 56
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly 56
Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome 58
Cjmg, Formerly 56
Cjmg 73

Characteristics:

Orphanet epidemiological data:

58
juvenile cataract-microcornea-renal glucosuria syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated august 2016)


HPO:

31
cataract 47:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 56 612018
OMIM Phenotypic Series 56 PS116200
Orphanet 58 ORPHA247794
UMLS 71 C2677587

Summaries for Cataract 47

UniProtKB/Swiss-Prot : 73 Cataract 47: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.

MalaCards based summary : Cataract 47, is also known as cataract, juvenile, with microcornea and glucosuria. An important gene associated with Cataract 47 is SLC16A12 (Solute Carrier Family 16 Member 12). Affiliated tissues include eye, and related phenotypes are cataract and microcornea

More information from OMIM: 612018 PS116200

Symptoms & Phenotypes for Cataract 47

Human phenotypes related to Cataract 47:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 microcornea 31 HP:0000482
3 glycosuria 31 HP:0003076

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract, juvenile-onset, progressive
microcornea, bilateral

Laboratory Abnormalities:
increased fractional renal excretion of guanidinoacetate

Clinical features from OMIM:

612018

Drugs & Therapeutics for Cataract 47

Search Clinical Trials , NIH Clinical Center for Cataract 47

Genetic Tests for Cataract 47

Genetic tests related to Cataract 47:

# Genetic test Affiliating Genes
1 Cataract, Juvenile, with Microcornea and Glucosuria 29 SLC16A12
2 Cataract 47, Juvenile, with Microcornea 29

Anatomical Context for Cataract 47

MalaCards organs/tissues related to Cataract 47:

40
Eye

Publications for Cataract 47

Articles related to Cataract 47:

# Title Authors PMID Year
1
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. 56 6
26376857 2016
2
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. 56 6
18304496 2008
3
[Juvenile cataract associated with microcornea and glucosuria: a new syndrome]. 56 6
17458810 2007
4
Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. 6
21778275 2011
5
Ophthalmic viscosurgical device-assisted sutureless-incision cataract surgery for a hard nucleus or mature cataract. 61
24581975 2014
6
The Impact of Knowledge and Attitudes on Access to Eye-Care Services in Cambodia. 61
26107724 2012
7
Fuchs' Uveitis: Failure to Associate Vitritis and Disc Hyperfluorescence with the Disease is the Major Factor for Misdiagnosis and Diagnostic Delay. 61
20404990 2009
8
Ocular complications after iodine brachytherapy for large uveal melanomas. 61
15350335 2004
9
[Aberrometry in the diagnosis of eye diseases]. 61
2095474 1990

Variations for Cataract 47

ClinVar genetic disease variations for Cataract 47:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A12 NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)SNV Pathogenic 784 rs121909386 10:91198656-91198656 10:89438899-89438899

Expression for Cataract 47

Search GEO for disease gene expression data for Cataract 47.

Pathways for Cataract 47

GO Terms for Cataract 47

Sources for Cataract 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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