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CTRCT40
MCID: CTR174
MIFTS: 32

Cataract 40 (CTRCT40)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Cataract 40

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MalaCards integrated aliases for Cataract 40:

Name: Cataract 40 57 12 72 29 6 15 70
Cataract 40 with or Without Microcornea 57 12 72
Ctrct40 57 12 72
Cataract, Congenital, X-Linked 57 13
Cataract 40, X-Linked 57 29
Cct 57 72
Cataract, Congenital Total, with Posterior Sutural Opacities in Heterozygotes; Cct 57
Cataract, Congenital Total, with Posterior Sutural Opacities in Heterozygotes 57
Congenital Total Cataract with Posterior Sutural Opacities in Heterozygotes 72
Cataract, Congenital, X-Linked; Cxn 57
X-Linked Congenital Cataract 72
Cataract 40 X-Linked 12
Cataract, Type 40 39
Cxn 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked
heterozygote expression


HPO:

31
cataract 40:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110272
OMIM® 57 302200
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 263934009 397541004 53889007
UMLS 70 C4049004
Sources

Summaries for Cataract 40

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UniProtKB/Swiss-Prot : 72 Cataract 40: 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. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 40, also known as cataract 40 with or without microcornea, is related to cataract, congenital, with microcornea or slight microphthalmia and cataract, total congenital. An important gene associated with Cataract 40 is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, and related phenotypes are severely reduced visual acuity and nuclear cataract

Disease Ontology : 12 A cataract that has material basis in mutation in the NHS gene on chromosome Xp22.

More information from OMIM: 302200 PS116200
Sources

Related Diseases for Cataract 40

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 cataract, congenital, with microcornea or slight microphthalmia 11.1
2 cataract, total congenital 11.0
3 nance-horan syndrome 10.1
4 cataract 10.1
5 early-onset non-syndromic cataract 10.1
6 thalassemia 10.1
7 fragile x syndrome 10.0
8 alpha-thalassemia 10.0
9 helix syndrome 10.0
10 glaucoma, primary open angle 9.9
11 tetralogy of fallot 9.9
12 leukemia, acute myeloid 9.9
13 intraocular pressure quantitative trait locus 9.9
14 open-angle glaucoma 9.9
15 hydrocephalus 9.9
16 pertussis 9.9
17 heart disease 9.9
18 bardet-biedl syndrome 9.9
19 arteriosclerosis 9.9
20 sensory peripheral neuropathy 9.9
21 vaccinia 9.9
22 fibrosarcoma of bone 9.9
23 histiocytosis 9.9
24 periodontitis 9.9
25 single ventricular heart 9.9
26 head injury 9.9
27 alzheimer disease 9.8
28 autoimmune disease 9.8
29 huntington disease 9.8
30 rheumatoid arthritis 9.8
31 small cell cancer of the lung 9.8
32 bardet-biedl syndrome 1 9.8
33 hemochromatosis, type 1 9.8
34 ocular motor apraxia 9.8
35 gitelman syndrome 9.8
36 ataxia and polyneuropathy, adult-onset 9.8
37 patent ductus venosus 9.8
38 polydactyly 9.8
39 bardet-biedl syndrome 6 9.8
40 paragangliomas 3 9.8
41 lissencephaly 1 9.8
42 hepatitis c virus 9.8
43 malaria 9.8
44 lung cancer susceptibility 3 9.8
45 leukemia, acute lymphoblastic 9.8
46 beta-thalassemia 9.8
47 graft-versus-host disease 9.8
48 bardet-biedl syndrome 10 9.8
49 bardet-biedl syndrome 12 9.8
50 lissencephaly 9.8

Graphical network of the top 20 diseases related to Cataract 40:



Diseases related to Cataract 40
Sources

Symptoms & Phenotypes for Cataract 40

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Human phenotypes related to Cataract 40:

31
# Description HPO Frequency HPO Source Accession
1 severely reduced visual acuity 31 HP:0001141
2 nuclear cataract 31 HP:0100018
3 sutural cataract 31 HP:0010695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
congenital nuclear cataract in males
severe visual impairment in males

Misc:
suture cataracts in heterozygous females

Clinical features from OMIM®:

302200 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Cataract 40

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Search Clinical Trials , NIH Clinical Center for Cataract 40

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Genetic Tests for Cataract 40

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Genetic tests related to Cataract 40:

# Genetic test Affiliating Genes
1 Cataract 40 29 NHS
2 Cataract 40, X-Linked 29
Sources

Anatomical Context for Cataract 40

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MalaCards organs/tissues related to Cataract 40:

40
Eye
Sources

Publications for Cataract 40

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Articles related to Cataract 40:

(show all 20)
# Title Authors PMID Year
1
X-linked cataract and Nance-Horan syndrome are allelic disorders. 57 6
19414485 2009
2
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). 57 6
15370543 2004
3
A locus for isolated cataract on human Xp. 57 6
11836358 2002
4
X-linked cataract and X-linked microphthalmos: how many deletion families? 57
2596532 1989
5
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
6
Is there an X-linked form of congenital cataracts? 57
7116682 1982
7
Ocular manifestations in a family with probably X-linked cataracts. 57
6800675 1981
8
X-chromosomal-linked sutural cataracts. 57
5352604 1969
9
X-linked cataract. 57
6056560 1967
10
HEREDITARY CATARACTS AND MICROPHTHALMIA. 57
14064894 1963
11
The role of the sex chromosome in hereditary ocular pathology. 57
13102571 1952
12
Proliferative Status in the Aqueous Humor of Eyes With Congenital Cataract. 61
32453849 2020
13
Validation and cross-cultural adaptation of the National Eye Institute Visual Function Questionnaire (NEI VFQ-25) in Serbian patients. 61
26370558 2015
14
Broomstick Injuries to the Eye; an Emerging Cause of Blindness among Children in Nigeria. 61
25838759 2015
15
[Keratometric measurements of cornea in first three years of life in children with congenital cataract]. 61
19069336 2008
16
Monitoring of photodynamic therapy results in age-related macular degeneration by means of preferential hyperacuity perimeter. 61
17932853 2007
17
Difficult-to-treat nephrotic syndrome: management and outcome. 61
16856434 2005
18
Vitreoretinal surgery and endoresection in high posterior choroidal melanomas. 61
11642372 2001
19
Induction of cataract in methylnitrosourea treated Fischer (F344) rats. 61
2584061 1989
20
Ocular disease and ophthalmic services in Malawi. 61
6648597 1983
Sources

Variations for Cataract 40

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ClinVar genetic disease variations for Cataract 40:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NHS NHS, 500-KB TRIPLICATION Variation Pathogenic 11029 GRCh37:
GRCh38:
2 NHS NHS, 4.8-KB DEL Deletion Pathogenic 11030 GRCh37:
GRCh38:
3 NHS NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) Indel Uncertain significance 211596 rs797045739 GRCh37: X:17394056-17394057
GRCh38: X:17375933-17375934
4 NHS NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) SNV Uncertain significance 930367 GRCh37: X:17742538-17742538
GRCh38: X:17724418-17724418
5 NHS NM_001291867.2(NHS):c.152C>T (p.Ala51Val) SNV Uncertain significance 167351 rs727504039 GRCh37: X:17394032-17394032
GRCh38: X:17375909-17375909
6 NHS NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) SNV Uncertain significance 198926 rs794727936 GRCh37: X:17750411-17750411
GRCh38: X:17732291-17732291
7 NHS NM_001291867.2(NHS):c.546C>G (p.Asp182Glu) SNV Uncertain significance 1030452 GRCh37: X:17394426-17394426
GRCh38: X:17376303-17376303
Sources

Expression for Cataract 40

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Search GEO for disease gene expression data for Cataract 40.
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Pathways for Cataract 40

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GO Terms for Cataract 40

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Cellular components related to Cataract 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 8.62 NHS BRK1
Sources

Sources for Cataract 40

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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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