CTRCT44
MCID: CTR145
MIFTS: 35

Cataract 44 (CTRCT44)

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

Aliases & Classifications for Cataract 44

MalaCards integrated aliases for Cataract 44:

Name: Cataract 44 57 12 72 29 6
Ctrct44 57 12 72
Total Early-Onset Cataract 12 58
Cataract 44 and Hypotrichosis 57
Cataract and Hypotrichosis 72
Cataract, Type 44 39

Characteristics:

Orphanet epidemiological data:

58
total early-onset cataract
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
a patient with congenital cataracts and hypotrichosis has been reported due to compound heterozygous mutations in lss
based on a report of 4 patients from 2 consanguineous families with homozygous lss mutations (last curated december 2018)


HPO:

31
cataract 44:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110267
OMIM® 57 616509
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MESH via Orphanet 45 C535341
ICD10 via Orphanet 33 Q12.0
UMLS via Orphanet 71 C0266539
Orphanet 58 ORPHA98994

Summaries for Cataract 44

UniProtKB/Swiss-Prot : 72 Cataract 44: 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.

MalaCards based summary : Cataract 44, also known as ctrct44, is related to cataract and morgagni cataract. An important gene associated with Cataract 44 is LSS (Lanosterol Synthase). Affiliated tissues include eye, and related phenotypes are visual loss and developmental cataract

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the LSS gene on chromosome 21q22.

More information from OMIM: 616509 PS116200

Related Diseases for Cataract 44

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 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cataract 26.0 SIPA1L3 NHS MIP LSS LIM2 LEMD2
2 morgagni cataract 10.3 CRYGB CRYAA
3 cataract 24 10.3 CRYGB CRYAA
4 congenital aphakia 10.3 CRYGB CRYAA
5 retinal perforation 10.2 CRYBB2 CRYAA
6 disuse amblyopia 10.2 FYCO1 CRYAA
7 leukocoria 10.2 GCNT2 CRYAA
8 cataract 6, multiple types 10.2 EPHA2 CRYAA
9 cataract 30, multiple types 10.2 GJA8 CRYBB2
10 abruzzo-erickson syndrome 10.1 CRYGB CRYBB2 CRYAA
11 cataract 48 10.1 DNMBP CRYGB CRYAA
12 hypotrichosis 10.1
13 night blindness, congenital stationary, type 2a 10.1 CRYGB CRYAA
14 cataract 28 10.1 NHS CRYAA
15 cataract 9, multiple types 10.1 GJA8 CRYBB2 CRYAA
16 cataract 16, multiple types 10.1 HSF4 CRYAA
17 sclerocornea 10.1 GJA8 CRYAA
18 cataract microcornea syndrome 10.1 GJA8 CRYBB2 CRYAA
19 erythrokeratodermia variabilis et progressiva 1 10.1 GJA8 CRYBB2 CRYAA
20 aniridia 1 10.1 GJA8 CRYBB2 CRYAA
21 cerulean cataract 10.1 MIP CRYBB2
22 galactosemia ii 10.0 LIM2 CRYAA
23 posterior polar cataract 10.0 HSF4 EPHA2 CRYAA
24 early-onset posterior polar cataract 10.0 MIP EPHA2
25 early-onset posterior subcapsular cataract 10.0 LEMD2 EPHA2 CRYBB2
26 mal de meleda 10.0 HSF4 CRYAA
27 anterior segment dysgenesis 10.0 GJA8 FYCO1 CRYAA
28 congenital nystagmus 10.0 GJA8 CRYAA
29 cataract 1, multiple types 10.0 NHS GJA8 CRYAA
30 senile cataract 9.9 EPHA2 CRYAA
31 early-onset sutural cataract 9.9 MIP GJA8 CRYBB2
32 nance-horan syndrome 9.8 NHS GJA8 CRYBB2 CRYAA
33 axenfeld-rieger syndrome, type 3 9.8 LIM2 GJA8 CRYBB2 CRYAA
34 mature cataract 9.8 MIP GJA8 CRYBB2 CRYAA
35 immature cataract 9.8 MIP GJA8 CRYGB CRYAA
36 early-onset lamellar cataract 9.8 MIP HSF4 CRYGB CRYAA
37 presbyopia 9.7 MIP LIM2 CRYGB CRYAA
38 eye accommodation disease 9.7 MIP LIM2 CRYGB CRYAA
39 lens disease 9.4 MIP HSF4 GJA8 CRYGB CRYBB2 CRYAA
40 early-onset nuclear cataract 9.2 NHS MIP GJA8 FYCO1 EPHA2 CRYBB2
41 microphthalmia 9.0 SIPA1L3 NHS MIP GJA8 GCNT2 CRYAA
42 early-onset non-syndromic cataract 7.9 SIPA1L3 NHS MIP LSS LIM2 LEMD2

Graphical network of the top 20 diseases related to Cataract 44:



Diseases related to Cataract 44

Symptoms & Phenotypes for Cataract 44

Human phenotypes related to Cataract 44:

31
# Description HPO Frequency HPO Source Accession
1 visual loss 31 HP:0000572
2 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
vision loss
cataract, congenital, severe

Clinical features from OMIM®:

616509 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cataract 44:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.44 CRYBB2 CRYGB DNMBP EPHA2 FYCO1 GJA8

Drugs & Therapeutics for Cataract 44

Search Clinical Trials , NIH Clinical Center for Cataract 44

Genetic Tests for Cataract 44

Genetic tests related to Cataract 44:

# Genetic test Affiliating Genes
1 Cataract 44 29 LSS

Anatomical Context for Cataract 44

MalaCards organs/tissues related to Cataract 44:

40
Eye

Publications for Cataract 44

Articles related to Cataract 44:

(show all 12)
# Title Authors PMID Year
1
Congenital cataract with LSS gene mutations: a new case report. 6 57
29016354 2017
2
Lanosterol reverses protein aggregation in cataracts. 6 57
26200341 2015
3
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 57
30401459 2018
4
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. 57
16440058 2006
5
Comparison of the clinical efficacy of AcrySof® IQ and TECNIS® toric intraocular lenses: A real-world study. 61
32934690 2020
6
Ophthalmic Care in Nursing Homes for the Blind: A Growing Challenge. 61
32869245 2020
7
Syrian Civil-War-Related Intraocular Foreign Body Injuries: A Four-Year Retrospective Analysis. 61
27367974 2017
8
Prevalence and causes of visual impairment in a rural North-east China adult population: a population-based survey in Bin County, Harbin. 61
19900201 2010
9
Long-term outcomes after allogeneic stem cell transplantation for children with hematological malignancies. 61
17530002 2007
10
The value of corneal transplantation in reducing blindness. 61
16304591 2005
11
Degree, duration, and causes of visual loss in uveitis. 61
15317708 2004
12
Blindness in the Indian state of Andhra Pradesh. 61
11274066 2001

Variations for Cataract 44

ClinVar genetic disease variations for Cataract 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LSS NM_002340.6(LSS):c.1762G>A (p.Gly588Ser) SNV Pathogenic 221226 rs561449819 GRCh37: 21:47615645-47615645
GRCh38: 21:46195731-46195731
2 LSS NM_002340.6(LSS):c.1741T>C (p.Trp581Arg) SNV Pathogenic 221227 rs864622780 GRCh37: 21:47615666-47615666
GRCh38: 21:46195752-46195752
3 LSS NM_002340.6(LSS):c.1025T>G (p.Ile342Ser) SNV Pathogenic 599317 rs749141857 GRCh37: 21:47633736-47633736
GRCh38: 21:46213822-46213822
4 LSS NM_002340.6(LSS):c.1887G>T (p.Trp629Cys) SNV Pathogenic 599318 rs764098604 GRCh37: 21:47614506-47614506
GRCh38: 21:46194592-46194592
5 LSS NM_002340.6(LSS):c.1228T>C (p.Cys410Arg) SNV Uncertain significance 1028406 GRCh37: 21:47629506-47629506
GRCh38: 21:46209592-46209592
6 LSS NM_002340.6(LSS):c.347G>A (p.Arg116His) SNV Uncertain significance 1033157 GRCh37: 21:47642625-47642625
GRCh38: 21:46222711-46222711

UniProtKB/Swiss-Prot genetic disease variations for Cataract 44:

72
# Symbol AA change Variation ID SNP ID
1 LSS p.Trp581Arg VAR_075664 rs864622780
2 LSS p.Gly588Ser VAR_075665 rs561449819

Expression for Cataract 44

Search GEO for disease gene expression data for Cataract 44.

Pathways for Cataract 44

GO Terms for Cataract 44

Cellular components related to Cataract 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.1 NHS MIP LIM2 GJA8 EPHA2 DNMBP
2 gap junction GO:0005921 8.96 MIP GJA8

Biological processes related to Cataract 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.55 MIP HSF4 CRYGB CRYBB2 CRYAA
2 eye development GO:0001654 9.43 SIPA1L3 HSF4 CRYGB
3 gap junction-mediated intercellular transport GO:1990349 9.37 MIP GJA8
4 lens fiber cell morphogenesis GO:0070309 9.32 EPHA2 CRYGB
5 camera-type eye development GO:0043010 9.26 LIM2 HSF4 GJA8 CRYBB2
6 lens development in camera-type eye GO:0002088 9.1 NHS MIP LIM2 GJA8 CRYGB CRYBB2

Molecular functions related to Cataract 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.02 MIP LIM2 CRYGB CRYBB2 CRYAA

Sources for Cataract 44

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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