CTRCT5
MCID: CTR122
MIFTS: 35

Cataract 5, Multiple Types (CTRCT5)

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

Aliases & Classifications for Cataract 5, Multiple Types

MalaCards integrated aliases for Cataract 5, Multiple Types:

Name: Cataract 5, Multiple Types 57 75 13 73
Ctrct5 57 12 75
Cataract, Marner Type 57 73
Lamellar Cataract 29 6
Cam 57 75
Cataract, Type 5, Multiple Types 40
Cataract, Marner Type; Cam; Ctm 57
Cataract 5 Multiple Types 12
Cataract Marner Type 75
Cataract, Lamellar 57
Ctm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable cataract phenotypes within a family
cataracts are progressive but may vary between eyes of an individual
cataracts variably present at birth


HPO:

32
cataract 5, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 116800
Disease Ontology 12 DOID:0110255
ICD10 33 Q12.0
MeSH 44 D002386

Summaries for Cataract 5, Multiple Types

OMIM : 57 Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title. (116800)

MalaCards based summary : Cataract 5, Multiple Types, also known as ctrct5, is related to cataract 23, multiple types and cataract 16, multiple types. An important gene associated with Cataract 5, Multiple Types is HSF4 (Heat Shock Transcription Factor 4). Affiliated tissues include eye, lung and skin, and related phenotypes are nuclear cataract and pulverulent cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.

UniProtKB/Swiss-Prot : 75 Cataract 5, multiple types: 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. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds.

Related Diseases for Cataract 5, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 46, Juvenile-Onset Cataract 40
Cataract 10, Multiple Types Cataract 24
Cataract 3, Multiple Types Cataract 14, Multiple Types
Cataract 9, Multiple Types Cataract 2, Multiple Types
Cataract 31, Multiple Types Cataract 25
Cataract 26, Multiple Types Cataract 27
Cataract 28 Cataract 35
Cataract 22, Multiple Types Cataract 18
Cataract 21, Multiple Types Cataract 23, Multiple Types
Cataract 11, Multiple Types Cataract 33, Multiple Types
Cataract 17, Multiple Types Cataract 12, Multiple Types
Cataract 47 Cataract 34, Multiple Types
Cataract 16, Multiple Types Cataract 36
Cataract 37 Cataract 38
Cataract 39, Multiple Types Cataract 15, Multiple Types
Cataract 19, Multiple Types Cataract 43
Cataract 44 Cataract 45
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 5, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 cataract 23, multiple types 11.8
2 cataract 16, multiple types 11.7
3 cerebral cavernous malformations 11.3
4 cobb syndrome 11.1
5 cataract 1, multiple types 11.1
6 cataract 10, multiple types 11.1
7 cataract 14, multiple types 11.1
8 cataract 10.4
9 breast cancer 10.2
10 ovarian cancer 10.1
11 adenocarcinoma 10.1
12 spindle cell hemangioma 10.0
13 lung cancer 10.0
14 pancreatic cancer 10.0
15 aging 10.0
16 leukemia 10.0
17 osteoarthritis 10.0
18 squamous cell carcinoma 10.0
19 melanoma 10.0
20 slipped capital femoral epiphysis 10.0
21 colorectal cancer 10.0
22 developmental dysplasia of the hip 1 10.0
23 small cell cancer of the lung 10.0
24 lymphoma 10.0
25 scoliosis 10.0
26 subacute delirium 10.0
27 alkaptonuria 9.9
28 megalocornea 9.9
29 neonatal jaundice 9.9
30 schizophrenia 9.9
31 myeloma, multiple 9.9
32 neuroblastoma 9.9
33 osteoid osteoma 9.9
34 amelogenesis imperfecta 9.9
35 measles 9.9
36 pain - chronic 9.9
37 adamantinoma of long bones 9.8
38 renal cell carcinoma, nonpapillary 9.8
39 prostate cancer 9.8
40 scoliosis, isolated 1 9.8
41 autism 9.8
42 anxiety 9.8
43 acute leukemia 9.8
44 b-cell lymphomas 9.8
45 ectodermal dysplasia 9.8
46 liver disease 9.8
47 idiopathic scoliosis 9.8
48 amblyopia 9.8
49 sarcoma 9.8
50 exostosis 9.8

Graphical network of the top 20 diseases related to Cataract 5, Multiple Types:



Diseases related to Cataract 5, Multiple Types

Symptoms & Phenotypes for Cataract 5, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nuclear cataract
zonular cataract
pulverulent cataract
stellate cataract
anterior polar cataract
more

Clinical features from OMIM:

116800

Human phenotypes related to Cataract 5, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 HP:0100018
2 pulverulent cataract 32 HP:0010693
3 anterior polar cataract 32 HP:0001134
4 lamellar cataract 32 HP:0007971

Drugs & Therapeutics for Cataract 5, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 5, Multiple Types

Genetic Tests for Cataract 5, Multiple Types

Genetic tests related to Cataract 5, Multiple Types:

# Genetic test Affiliating Genes
1 Lamellar Cataract 29 HSF4

Anatomical Context for Cataract 5, Multiple Types

MalaCards organs/tissues related to Cataract 5, Multiple Types:

41
Eye, Lung, Skin, Liver, Breast, B Cells, Myeloid

Publications for Cataract 5, Multiple Types

Articles related to Cataract 5, Multiple Types:

# Title Authors Year
1
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. ( 29934635 )
2018
2
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ( 29243736 )
2018
3
HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice. ( 24975927 )
2014
4
Expression of the HSF4 DNA binding domain-EGFP hybrid gene recreates early childhood lamellar cataract in transgenic mice. ( 25168898 )
2014
5
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ( 23116563 )
2013
6
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ( 16505043 )
2006
7
Anterior megalophthalmos associated with lamellar cataract on alkaptonuria. ( 7141594 )
1982

Variations for Cataract 5, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 5, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 HSF4 p.Ala19Asp VAR_017558 rs121909049
2 HSF4 p.Ile86Val VAR_017559 rs121909050
3 HSF4 p.Leu114Pro VAR_017560 rs121909048
4 HSF4 p.Arg119Cys VAR_017561 rs28937573
5 HSF4 p.Arg73His VAR_029018

ClinVar genetic disease variations for Cataract 5, Multiple Types:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSF4 NM_001538.3(HSF4): c.350T> G (p.Val117Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67165836: 67165836
2 HSF4 NM_001538.3(HSF4): c.350T> G (p.Val117Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67199739: 67199739
3 HSF4 NM_001040667.2(HSF4): c.426_443dup (p.Gln150_Glu151insAlaLeuArgGlyValGln) duplication Uncertain significance GRCh37 Chromosome 16, 67199914: 67199931
4 HSF4 NM_001538.3(HSF4): c.352C> T (p.Arg118Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 67199741: 67199741
5 HSF4 NM_001538.3(HSF4): c.352C> T (p.Arg118Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 67165838: 67165838
6 HSF4 NM_001040667.2(HSF4): c.925C> G (p.Leu309Val) single nucleotide variant not provided rs201430635 GRCh38 Chromosome 16, 67167790: 67167790
7 HSF4 NM_001040667.2(HSF4): c.925C> G (p.Leu309Val) single nucleotide variant not provided rs201430635 GRCh37 Chromosome 16, 67201693: 67201693
8 HSF4 NM_001040667.2(HSF4): c.965dup (p.Pro323Alafs) duplication Pathogenic GRCh38 Chromosome 16, 67167830: 67167830
9 HSF4 NM_001040667.2(HSF4): c.965dup (p.Pro323Alafs) duplication Pathogenic GRCh37 Chromosome 16, 67201733: 67201733
10 HSF4 NM_001538.3(HSF4): c.442G> A (p.Gly148Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67199930: 67199930
11 HSF4 NM_001538.3(HSF4): c.442G> A (p.Gly148Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67166027: 67166027
12 HSF4 NM_001538.3(HSF4): c.232+4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67199537: 67199537
13 HSF4 NM_001538.3(HSF4): c.232+4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67165634: 67165634
14 HSF4 NM_001040667.2(HSF4): c.426_443dup (p.Gln150_Glu151insAlaLeuArgGlyValGln) duplication Uncertain significance GRCh38 Chromosome 16, 67166011: 67166028
15 HSF4 NM_001538.3(HSF4): c.1386C> A (p.Pro462=) single nucleotide variant Conflicting interpretations of pathogenicity rs367756178 GRCh37 Chromosome 16, 67203685: 67203685
16 HSF4 NM_001538.3(HSF4): c.1386C> A (p.Pro462=) single nucleotide variant Conflicting interpretations of pathogenicity rs367756178 GRCh38 Chromosome 16, 67169782: 67169782
17 HSF4 NM_001538.3(HSF4): c.123+9C> T single nucleotide variant Benign rs115335849 GRCh37 Chromosome 16, 67198846: 67198846
18 HSF4 NM_001538.3(HSF4): c.123+9C> T single nucleotide variant Benign rs115335849 GRCh38 Chromosome 16, 67164943: 67164943
19 HSF4 NM_001040667.2(HSF4): c.256A> G (p.Ile86Val) single nucleotide variant Pathogenic rs121909050 GRCh38 Chromosome 16, 67165742: 67165742
20 HSF4 NM_001040667.2(HSF4): c.256A> G (p.Ile86Val) single nucleotide variant Pathogenic rs121909050 GRCh37 Chromosome 16, 67199645: 67199645
21 HSF4 NM_001040667.2(HSF4): c.56C> A (p.Ala19Asp) single nucleotide variant Pathogenic rs121909049 GRCh38 Chromosome 16, 67164867: 67164867
22 HSF4 NM_001040667.2(HSF4): c.56C> A (p.Ala19Asp) single nucleotide variant Pathogenic rs121909049 GRCh37 Chromosome 16, 67198770: 67198770
23 HSF4 NM_001040667.2(HSF4): c.355C> T (p.Arg119Cys) single nucleotide variant Pathogenic rs28937573 GRCh38 Chromosome 16, 67165841: 67165841
24 HSF4 NM_001040667.2(HSF4): c.355C> T (p.Arg119Cys) single nucleotide variant Pathogenic rs28937573 GRCh37 Chromosome 16, 67199744: 67199744
25 HSF4 NM_001040667.2(HSF4): c.341T> C (p.Leu114Pro) single nucleotide variant Pathogenic rs121909048 GRCh38 Chromosome 16, 67165827: 67165827
26 HSF4 NM_001040667.2(HSF4): c.341T> C (p.Leu114Pro) single nucleotide variant Pathogenic rs121909048 GRCh37 Chromosome 16, 67199730: 67199730
27 HSF4 NM_001538.3(HSF4): c.8A> G (p.Glu3Gly) single nucleotide variant Uncertain significance rs753084587 GRCh38 Chromosome 16, 67164819: 67164819
28 HSF4 NM_001538.3(HSF4): c.1165-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 67203180: 67203180
29 HSF4 NM_001538.3(HSF4): c.1165-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 67169277: 67169277
30 HSF4 NM_001538.3(HSF4): c.89delA (p.Asp30Alafs) deletion Pathogenic GRCh37 Chromosome 16, 67198803: 67198803
31 HSF4 NM_001538.3(HSF4): c.89delA (p.Asp30Alafs) deletion Pathogenic GRCh38 Chromosome 16, 67164900: 67164900
32 HSF4 NM_001538.3(HSF4): c.8A> G (p.Glu3Gly) single nucleotide variant Uncertain significance rs753084587 GRCh37 Chromosome 16, 67198722: 67198722

Expression for Cataract 5, Multiple Types

Search GEO for disease gene expression data for Cataract 5, Multiple Types.

Pathways for Cataract 5, Multiple Types

GO Terms for Cataract 5, Multiple Types

Sources for Cataract 5, Multiple Types

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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