CTRCT47
MCID: CTR162
MIFTS: 24

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 58 76
Cataract, Juvenile, with Microcornea and Glucosuria 76 30 13 6 41 74
Cataract 47, Juvenile, with Microcornea 58 76
Cataract, Juvenile, with Microcornea 58 76
Ctrct47 58 76
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly; Cjmg, Formerly 58
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly 58
Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome 60
Cjmg, Formerly 58
Cjmg 76

Characteristics:

Orphanet epidemiological data:

60
juvenile cataract-microcornea-renal glucosuria syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 47:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612018
Orphanet 60 ORPHA247794
UMLS 74 C2677587

Summaries for Cataract 47

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 612018

Symptoms & Phenotypes for Cataract 47

Human phenotypes related to Cataract 47:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 microcornea 33 HP:0000482
3 glycosuria 33 HP:0003076

Symptoms via clinical synopsis from OMIM:

58
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 30 SLC16A12

Anatomical Context for Cataract 47

MalaCards organs/tissues related to Cataract 47:

42
Eye

Publications for Cataract 47

Articles related to Cataract 47:

# Title Authors Year
1
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. ( 26376857 )
2016
2
Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. ( 21778275 )
2011
3
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. ( 18304496 )
2008
4
[Juvenile cataract associated with microcornea and glucosuria: a new syndrome]. ( 17458810 )
2007

Variations for Cataract 47

ClinVar genetic disease variations for Cataract 47:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC16A12 NM_213606.3(SLC16A12): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs121909386 GRCh37 Chromosome 10, 91198656: 91198656
2 SLC16A12 NM_213606.3(SLC16A12): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs121909386 GRCh38 Chromosome 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
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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