CTRCT44
MCID: CTR145
MIFTS: 32

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 58 12 76 30 6
Ctrct44 58 12 76
Total Early-Onset Cataract 12 60
Cataract 44 and Hypotrichosis 58
Cataract, Type 44 41

Characteristics:

Orphanet epidemiological data:

60
total early-onset cataract
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
cataract 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110267
OMIM 58 616509
MeSH 45 D002386
ICD10 34 Q12.0
MESH via Orphanet 46 C535341
ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C0266539
Orphanet 60 ORPHA98994

Summaries for Cataract 44

UniProtKB/Swiss-Prot : 76 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 24 and bacterial conjunctivitis. 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.

Description from OMIM: 616509

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cataract 24 9.9 CRYAA CRYGB
2 bacterial conjunctivitis 9.9 CRYAA GCNT2
3 early-onset posterior subcapsular cataract 9.9 CRYBB2 EPHA2 LEMD2
4 cortical senile cataract 9.9 CRYAA EPHA2
5 cerulean cataract 9.9 CRYBB2 MIP
6 degenerative myopia 9.9 CRYAA GCNT2
7 cataract 30, multiple types 9.9 CRYBB2 GJA8
8 congenital aphakia 9.8 CRYGB GJA8
9 presbyopia 9.7 CRYAA MIP
10 cataract 25 9.7 CRYBB2 GJA8 MIP
11 eye accommodation disease 9.7 CRYAA MIP
12 cataract microcornea syndrome 9.5 CRYAA CRYBB2 GJA8
13 cataract 9, multiple types 9.5 CRYAA CRYBB2 GJA8
14 lens disease 9.4 CRYAA CRYBB2 GJA8
15 mature cataract 9.4 CRYAA CRYBB2 CRYGB MIP
16 cataract 16, multiple types 9.3 CRYAA CRYGB EPHA2 HSF4 MIP
17 early-onset nuclear cataract 8.6 CRYAA CRYBB2 EPHA2 FYCO1 GJA8 MIP
18 cataract 7.5 AGK CRYAA CRYBB2 CRYGB EPHA2 FYCO1

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:

33
# Description HPO Frequency HPO Source Accession
1 visual loss 33 HP:0000572
2 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
vision loss
cataract, congenital, severe

Clinical features from OMIM:

616509

MGI Mouse Phenotypes related to Cataract 44:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 CRYBB2 CRYGB EPHA2 GJA8 HSF4 LEMD2

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 30 LSS

Anatomical Context for Cataract 44

MalaCards organs/tissues related to Cataract 44:

42
Eye

Publications for Cataract 44

Variations for Cataract 44

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

76
# Symbol AA change Variation ID SNP ID
1 LSS p.Trp581Arg VAR_075664 rs864622780
2 LSS p.Gly588Ser VAR_075665 rs561449819

ClinVar genetic disease variations for Cataract 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LSS NM_001001438.2(LSS): c.1762G> A (p.Gly588Ser) single nucleotide variant Pathogenic rs561449819 GRCh38 Chromosome 21, 46195731: 46195731
2 LSS NM_001001438.2(LSS): c.1762G> A (p.Gly588Ser) single nucleotide variant Pathogenic rs561449819 GRCh37 Chromosome 21, 47615645: 47615645
3 LSS NM_001001438.2(LSS): c.1741T> C (p.Trp581Arg) single nucleotide variant Pathogenic rs864622780 GRCh37 Chromosome 21, 47615666: 47615666
4 LSS NM_001001438.2(LSS): c.1741T> C (p.Trp581Arg) single nucleotide variant Pathogenic rs864622780 GRCh38 Chromosome 21, 46195752: 46195752
5 LSS NM_001001438.2(LSS): c.1025T> G (p.Ile342Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46213822: 46213822
6 LSS NM_001001438.2(LSS): c.1025T> G (p.Ile342Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47633736: 47633736
7 LSS NM_001001438.2(LSS): c.1887G> T (p.Trp629Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46194592: 46194592
8 LSS NM_001001438.2(LSS): c.1887G> T (p.Trp629Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47614506: 47614506

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 9.02 EPHA2 GJA8 LIM2 MIP NHS
2 gap junction GO:0005921 8.96 GJA8 MIP

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

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 9.54 CRYAA GJA8 HSF4
2 camera-type eye development GO:0043010 9.46 CRYBB2 GJA8 HSF4 LIM2
3 visual perception GO:0007601 9.43 CRYAA CRYBB2 CRYGB GJA8 HSF4 MIP
4 negative regulation of protein kinase B signaling GO:0051898 9.4 EPHA2 LEMD2
5 eye development GO:0001654 9.32 HSF4 SIPA1L3
6 lens fiber cell morphogenesis GO:0070309 9.26 CRYGB EPHA2
7 lens development in camera-type eye GO:0002088 9.02 CRYGB GJA8 LIM2 MIP NHS

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 CRYAA CRYBB2 CRYGB LIM2 MIP
2 channel activity GO:0015267 8.96 GJA8 MIP

Sources for Cataract 44

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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