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 57 75
Cataract, Juvenile, with Microcornea and Glucosuria 75 29 13 6 40 73
Cataract 47, Juvenile, with Microcornea 57 75
Cataract, Juvenile, with Microcornea 57 75
Ctrct47 57 75
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly; Cjmg, Formerly 57
Cataract, Juvenile, with Microcornea and Glucosuria, Formerly 57
Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome 59
Cjmg, Formerly 57
Cjmg 75

Characteristics:

Orphanet epidemiological data:

59
juvenile cataract-microcornea-renal glucosuria syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cataract 47:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612018
Orphanet 59 ORPHA247794
UMLS 73 C2677587

Summaries for Cataract 47

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, juvenile-onset, progressive
microcornea, bilateral

Laboratory Abnormalities:
increased fractional renal excretion of guanidinoacetate


Clinical features from OMIM:

612018

Human phenotypes related to Cataract 47:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 microcornea 32 HP:0000482
3 glycosuria 32 HP:0003076

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

Anatomical Context for Cataract 47

MalaCards organs/tissues related to Cataract 47:

41
Eye

Publications for Cataract 47

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 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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