CTRCT40
MCID: CTR174
MIFTS: 34

Cataract 40 (CTRCT40)

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

Aliases & Classifications for Cataract 40

MalaCards integrated aliases for Cataract 40:

Name: Cataract 40 57 12 75 29 6 73
Cataract 40 with or Without Microcornea 57 12 75
Ctrct40 57 12 75
Cataract, Congenital, X-Linked 57 13
Cct 57 75
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 75
Cataract, Congenital, X-Linked; Cxn 57
X-Linked Congenital Cataract 75
Cataract 40, X-Linked 57
Cataract 40 X-Linked 12
Cataract, Type 40 40
Cxn 57

Characteristics:

OMIM:

57
Inheritance:
x-linked
heterozygote expression


HPO:

32
cataract 40:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 302200
Disease Ontology 12 DOID:0110272
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 397541004 263934009 53889007
UMLS 73 C4049004

Summaries for Cataract 40

UniProtKB/Swiss-Prot : 75 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 suppressor of tumorigenicity 3 and cataract, congenital, with microcornea or slight microphthalmia. An important gene associated with Cataract 40 is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, lung and breast, and related phenotypes are nuclear cataract and severe vision loss

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

Description from OMIM: 302200

Related Diseases for Cataract 40

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 suppressor of tumorigenicity 3 11.2
2 cataract, congenital, with microcornea or slight microphthalmia 11.2
3 perrault syndrome 1 11.1
4 cataract, total congenital 11.1
5 tropical calcific pancreatitis 10.3
6 nance-horan syndrome 10.2
7 cataract 10.2
8 thalassemia 10.1
9 histiocytosis 10.0
10 malignant histiocytosis 10.0
11 head injury 10.0
12 autoimmune disease 9.9
13 breast cancer 9.9
14 small cell cancer of the lung 9.9
15 lung cancer 9.9
16 alpha-thalassemia 9.9
17 autoimmune disease 1 9.9
18 hepatitis c virus 9.9
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
20 malaria 9.9
21 graft-versus-host disease 9.9
22 hepatitis 9.9
23 keratoconus 9.9
24 hereditary sensory neuropathy 9.9
25 myopia 9.9
26 hepatitis c 9.9
27 transient cerebral ischemia 9.9
28 sensory peripheral neuropathy 9.9
29 vaccinia 9.9
30 anthrax disease 9.9
31 influenza 9.9
32 neuropathy 9.9
33 encephalitis 9.9
34 chronic graft versus host disease 9.9
35 pachygyria 9.9
36 polymorphic reticulosis 9.9

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



Diseases related to Cataract 40

Symptoms & Phenotypes for Cataract 40

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital nuclear cataract in males
severe visual impairment in males

Misc:
suture cataracts in heterozygous females


Clinical features from OMIM:

302200

Human phenotypes related to Cataract 40:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 HP:0100018
2 severe vision loss 32 HP:0001141
3 sutural cataract 32 HP:0010695

Drugs & Therapeutics for Cataract 40

Search Clinical Trials , NIH Clinical Center for Cataract 40

Genetic Tests for Cataract 40

Genetic tests related to Cataract 40:

# Genetic test Affiliating Genes
1 Cataract 40 29 NHS

Anatomical Context for Cataract 40

MalaCards organs/tissues related to Cataract 40:

41
Eye, Lung, Breast, T Cells

Publications for Cataract 40

Variations for Cataract 40

ClinVar genetic disease variations for Cataract 40:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NHS NHS, 500-KB TRIPLICATION undetermined variant Pathogenic
2 NHS NHS, 4.8-KB DEL deletion Pathogenic

Expression for Cataract 40

Search GEO for disease gene expression data for Cataract 40.

Pathways for Cataract 40

GO Terms for Cataract 40

Sources for Cataract 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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