CTRCT5
MCID: CTR122
MIFTS: 36

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 72 13 70
Cataract 5 Multiple Types 12 29 6
Ctrct5 57 12 72
Cataract, Marner Type 57 70
Cam 57 72
Cataract, Type 5, Multiple Types 39
Cataract, Marner Type; Cam; Ctm 57
Cataract Marner Type 72
Cataract, Lamellar 57
Ctm 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
cataract 5, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110255
OMIM® 57 116800
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
UMLS 70 C1861821 C3888417

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) (Updated 20-May-2021)

MalaCards based summary : Cataract 5, Multiple Types, also known as cataract 5 multiple types, is related to cerebral cavernous malformations and masa syndrome. An important gene associated with Cataract 5, Multiple Types is HSF4 (Heat Shock Transcription Factor 4). Affiliated tissues include eye, skin and lung, and related phenotypes are nuclear cataract and anterior polar 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 : 72 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 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 48
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 496)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 11.1
2 masa syndrome 11.0
3 hair whorl 10.9
4 cerebrofacial arteriovenous metameric syndrome 10.7
5 subacute delirium 10.6
6 aging 10.4
7 neuroblastoma 10.3
8 measles 10.3
9 suppression amblyopia 10.2
10 amblyopia 10.2
11 back pain 10.2
12 osteoarthritis 10.2
13 ovarian cancer 10.2
14 slipped capital femoral epiphysis 10.2
15 chronic pain 10.2
16 scoliosis 10.2
17 pancreatic cancer 10.1
18 idiopathic scoliosis 10.1
19 scoliosis, isolated 1 10.1
20 myeloma, multiple 10.1
21 bone resorption disease 10.1
22 squamous cell carcinoma 10.1
23 adenocarcinoma 10.1
24 47,xyy 10.1
25 breast cancer 10.1
26 ocular motor apraxia 10.1
27 osteonecrosis 10.1
28 developmental dysplasia of the hip 1 10.0
29 oral squamous cell carcinoma 10.0
30 dementia 10.0
31 post-traumatic stress disorder 10.0
32 headache 10.0
33 hepatitis b 10.0
34 prion disease 10.0
35 renal cell carcinoma, nonpapillary 10.0
36 migraine with or without aura 1 10.0
37 lung cancer 10.0
38 microvascular complications of diabetes 5 10.0
39 inflammatory bowel disease 10.0
40 lymphoma 10.0
41 rapidly involuting congenital hemangioma 10.0
42 hydrocephalus 10.0
43 enophthalmos 10.0
44 cholera 10.0
45 bruxism 10.0
46 acute stress disorder 10.0
47 adenoma 10.0
48 periodontitis 10.0
49 cytokine deficiency 10.0
50 ovarian epithelial cancer 10.0

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

Human phenotypes related to Cataract 5, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 31 HP:0100018
2 anterior polar cataract 31 HP:0001134
3 pulverulent cataract 31 HP:0010693
4 lamellar cataract 31 HP:0007971

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nuclear cataract
zonular cataract
anterior polar cataract
pulverulent cataract
lamellar cataract
more

Clinical features from OMIM®:

116800 (Updated 20-May-2021)

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 Cataract 5 Multiple Types 29 HSF4

Anatomical Context for Cataract 5, Multiple Types

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

40
Eye, Skin, Lung, Bone, Breast, Myeloid, Heart

Publications for Cataract 5, Multiple Types

Articles related to Cataract 5, Multiple Types:

# Title Authors PMID Year
1
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. 57 6
12089525 2002
2
Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. 6 57
3233780 1988
3
Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts. 6
24045990 2013
4
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. 6
15959809 2005
5
The genetics of cataract: our vision becomes clearer. 57
9497271 1998
6
Autosomal dominant congenital cataract. Morphology and genetic mapping. 57
2728866 1989
7
Classification of hereditary cataracts in children by linkage analysis. 57
121767 1979
8
[Congenital cataract]. 57
14919875 1952
9
Stabilized triple procedure for management of coexisting corneal opacity and cataract. 61
25311413 2014

Variations for Cataract 5, Multiple Types

ClinVar genetic disease variations for Cataract 5, Multiple Types:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSF4 NM_001040667.3(HSF4):c.341T>C (p.Leu114Pro) SNV Pathogenic 7092 rs121909048 GRCh37: 16:67199730-67199730
GRCh38: 16:67165827-67165827
2 HSF4 NM_001040667.3(HSF4):c.355C>T (p.Arg119Cys) SNV Pathogenic 7093 rs28937573 GRCh37: 16:67199744-67199744
GRCh38: 16:67165841-67165841
3 HSF4 NM_001040667.3(HSF4):c.56C>A (p.Ala19Asp) SNV Pathogenic 7094 rs121909049 GRCh37: 16:67198770-67198770
GRCh38: 16:67164867-67164867
4 HSF4 NM_001040667.3(HSF4):c.256A>G (p.Ile86Val) SNV Pathogenic 7095 rs121909050 GRCh37: 16:67199645-67199645
GRCh38: 16:67165742-67165742
5 HSF4 NM_001040667.3(HSF4):c.89del (p.Asp30fs) Deletion Pathogenic 459609 rs1555549755 GRCh37: 16:67198803-67198803
GRCh38: 16:67164900-67164900
6 HSF4 NM_001040667.3(HSF4):c.965dup (p.Pro323fs) Duplication Pathogenic 567423 rs776129797 GRCh37: 16:67201726-67201727
GRCh38: 16:67167823-67167824
7 HSF4 NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu) SNV Pathogenic 1031991 GRCh37: 16:67203686-67203686
GRCh38: 16:67169783-67169783
8 HSF4 NM_001374675.1(HSF4):c.728C>A (p.Ser243Ter) SNV Pathogenic 1032750 GRCh37: 16:67201124-67201124
GRCh38: 16:67167221-67167221
9 HSF4 NM_001040667.3(HSF4):c.352C>T (p.Arg118Trp) SNV Likely pathogenic 582457 rs1567668570 GRCh37: 16:67199741-67199741
GRCh38: 16:67165838-67165838
10 HSF4 NM_001040667.3(HSF4):c.1255-2A>G SNV Likely pathogenic 459607 rs1456161420 GRCh37: 16:67203180-67203180
GRCh38: 16:67169277-67169277
11 HSF4 NM_001040667.3(HSF4):c.350T>G (p.Val117Gly) SNV Uncertain significance 459608 rs1555549881 GRCh37: 16:67199739-67199739
GRCh38: 16:67165836-67165836
12 HSF4 NM_001040667.3(HSF4):c.8A>G (p.Glu3Gly) SNV Uncertain significance 459610 rs753084587 GRCh37: 16:67198722-67198722
GRCh38: 16:67164819-67164819
13 HSF4 NM_001040667.3(HSF4):c.32A>G (p.Glu11Gly) SNV Uncertain significance 320177 rs886052215 GRCh37: 16:67198746-67198746
GRCh38: 16:67164843-67164843
14 HSF4 , FBXL8 NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys) SNV Uncertain significance 320166 rs777343855 GRCh37: 16:67197494-67197494
GRCh38: 16:67163591-67163591
15 HSF4 NM_001040667.3(HSF4):c.203T>C (p.Met68Thr) SNV Uncertain significance 320178 rs751405773 GRCh37: 16:67199504-67199504
GRCh38: 16:67165601-67165601
16 HSF4 NM_001040667.3(HSF4):c.1075C>A (p.Pro359Thr) SNV Uncertain significance 320187 rs886052216 GRCh37: 16:67201843-67201843
GRCh38: 16:67167940-67167940
17 HSF4 NM_001040667.3(HSF4):c.-191C>G SNV Uncertain significance 320174 rs769427775 GRCh37: 16:67198524-67198524
GRCh38: 16:67164621-67164621
18 FBXL8 , HSF4 NM_018378.3(FBXL8):c.*248A>G SNV Uncertain significance 320169 rs886052213 GRCh37: 16:67197971-67197971
GRCh38: 16:67164068-67164068
19 HSF4 NM_001040667.3(HSF4):c.-186C>T SNV Uncertain significance 320175 rs772601480 GRCh37: 16:67198529-67198529
GRCh38: 16:67164626-67164626
20 HSF4 NM_001040667.3(HSF4):c.-354C>A SNV Uncertain significance 320170 rs886052214 GRCh37: 16:67198361-67198361
GRCh38: 16:67164458-67164458
21 HSF4 NM_001040667.3(HSF4):c.594G>T (p.Ala198=) SNV Uncertain significance 320183 rs763541172 GRCh37: 16:67200493-67200493
GRCh38: 16:67166590-67166590
22 HSF4 NM_001040667.3(HSF4):c.-211A>G SNV Uncertain significance 320173 rs369313270 GRCh37: 16:67198504-67198504
GRCh38: 16:67164601-67164601
23 HSF4 NM_001374675.1(HSF4):c.401A>T (p.Glu134Val) SNV Uncertain significance 884593 GRCh37: 16:67199889-67199889
GRCh38: 16:67165986-67165986
24 HSF4 , FBXL8 NM_018378.3(FBXL8):c.781G>C (p.Ala261Pro) SNV Uncertain significance 885460 GRCh37: 16:67197379-67197379
GRCh38: 16:67163476-67163476
25 HSF4 , FBXL8 NM_018378.3(FBXL8):c.822C>T (p.Ala274=) SNV Uncertain significance 885461 GRCh37: 16:67197420-67197420
GRCh38: 16:67163517-67163517
26 HSF4 NM_001040667.3(HSF4):c.442G>A (p.Gly148Arg) SNV Uncertain significance 567874 rs1567668765 GRCh37: 16:67199930-67199930
GRCh38: 16:67166027-67166027
27 HSF4 NM_001040667.3(HSF4):c.232+4A>G SNV Uncertain significance 580870 rs1567668314 GRCh37: 16:67199537-67199537
GRCh38: 16:67165634-67165634
28 HSF4 NM_001040667.3(HSF4):c.426_443dup (p.Ala145_Gln150dup) Duplication Uncertain significance 522680 rs760351849 GRCh37: 16:67199913-67199914
GRCh38: 16:67166010-67166011
29 HSF4 NM_001040667.3(HSF4):c.1325-1G>T SNV Uncertain significance 631757 rs142731757 GRCh37: 16:67203533-67203533
GRCh38: 16:67169630-67169630
30 HSF4 NM_001040667.3(HSF4):c.741G>A (p.Glu247=) SNV Uncertain significance 320186 rs373435397 GRCh37: 16:67201389-67201389
GRCh38: 16:67167486-67167486
31 HSF4 , FBXL8 NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp) SNV Uncertain significance 884526 GRCh37: 16:67197318-67197318
GRCh38: 16:67163415-67163415
32 HSF4 NM_001040667.3(HSF4):c.-244A>C SNV Uncertain significance 886483 GRCh37: 16:67198471-67198471
GRCh38: 16:67164568-67164568
33 HSF4 NM_001040667.3(HSF4):c.-198C>T SNV Uncertain significance 886484 GRCh37: 16:67198517-67198517
GRCh38: 16:67164614-67164614
34 HSF4 NM_001374675.1(HSF4):c.104A>G (p.His35Arg) SNV Uncertain significance 887737 GRCh37: 16:67198818-67198818
GRCh38: 16:67164915-67164915
35 HSF4 NM_001374675.1(HSF4):c.*148T>G SNV Uncertain significance 887802 GRCh37: 16:67203836-67203836
GRCh38: 16:67169933-67169933
36 HSF4 NC_000016.10:g.67169944T>C SNV Uncertain significance 887803 GRCh37: 16:67203847-67203847
GRCh38: 16:67169944-67169944
37 HSF4 NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala) SNV Uncertain significance 930224 GRCh37: 16:67202972-67202972
GRCh38: 16:67169069-67169069
38 HSF4 NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp) SNV Uncertain significance 943687 GRCh37: 16:67199500-67199500
GRCh38: 16:67165597-67165597
39 HSF4 NM_001374675.1(HSF4):c.250G>C (p.Val84Leu) SNV Uncertain significance 1016998 GRCh37: 16:67199639-67199639
GRCh38: 16:67165736-67165736
40 HSF4 NM_001374675.1(HSF4):c.854+5G>A SNV Likely benign 885526 GRCh37: 16:67201507-67201507
GRCh38: 16:67167604-67167604
41 FBXL8 , HSF4 NM_018378.3(FBXL8):c.*277C>T SNV Likely benign 886482 GRCh37: 16:67198000-67198000
GRCh38: 16:67164097-67164097
42 HSF4 NM_001040667.3(HSF4):c.394C>T (p.Arg132Cys) SNV Likely benign 320180 rs769736356 GRCh37: 16:67199882-67199882
GRCh38: 16:67165979-67165979
43 HSF4 NM_001374675.1(HSF4):c.510G>A (p.Glu170=) SNV Likely benign 884594 GRCh37: 16:67200247-67200247
GRCh38: 16:67166344-67166344
44 HSF4 NM_001040667.3(HSF4):c.1137G>A (p.Pro379=) SNV Likely benign 320189 rs369862977 GRCh37: 16:67202788-67202788
GRCh38: 16:67168885-67168885
45 HSF4 NM_001040667.3(HSF4):c.1127T>C (p.Leu376Pro) SNV Likely benign 320188 rs373962350 GRCh37: 16:67202778-67202778
GRCh38: 16:67168875-67168875
46 HSF4 NM_001040667.3(HSF4):c.-250C>T SNV Likely benign 320171 rs140579779 GRCh37: 16:67198465-67198465
GRCh38: 16:67164562-67164562
47 HSF4 NM_001040667.3(HSF4):c.523C>G (p.Arg175Gly) SNV Likely benign 320181 rs377009893 GRCh37: 16:67200260-67200260
GRCh38: 16:67166357-67166357
48 HSF4 NM_001040667.3(HSF4):c.1476C>A (p.Pro492=) SNV Benign/Likely benign 320191 rs367756178 GRCh37: 16:67203685-67203685
GRCh38: 16:67169782-67169782
49 HSF4 NM_001040667.3(HSF4):c.123+9C>T SNV Benign 258163 rs115335849 GRCh37: 16:67198846-67198846
GRCh38: 16:67164943-67164943
50 HSF4 NM_001040667.3(HSF4):c.561+4T>G SNV Benign 320182 rs180744555 GRCh37: 16:67200302-67200302
GRCh38: 16:67166399-67166399

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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