Cataract 40 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Oral diseases Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

External Ids:

OMIM ⁵⁷ 302200

Disease Ontology ¹² DOID:0110272

ICD10 ³³ Q12.0

MedGen ⁴² C2752078 C2930878

MeSH ⁴⁴ D002386

SNOMED-CT via HPO ⁶⁹ 397541004 263934009 5361003

UMLS ⁷³ C4049004

Sources

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, and related phenotypes are severe visual impairment and congenital nuclear cataract

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

Description from OMIM: 302200

Sources

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 27)

#	Related Disease	Score
1	suppressor of tumorigenicity 3	11.1
2	cataract, congenital, with microcornea or slight microphthalmia	11.1
3	cataract, total congenital	10.9
4	nance-horan syndrome	10.1
5	cataract	10.1
6	thalassemia	9.9
7	histiocytosis	9.9
8	neuronitis	9.9
9	malignant histiocytosis	9.9
10	autoimmune disease	9.7
11	breast cancer	9.7
12	small cell cancer of the lung	9.7
13	lung cancer	9.7
14	autoimmune disease 1	9.7
15	hepatitis c virus	9.7
16	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	9.7
17	graft-versus-host disease	9.7
18	hepatitis	9.7
19	hereditary sensory neuropathy	9.7
20	myopia	9.7
21	hepatitis c	9.7
22	sensory peripheral neuropathy	9.7
23	vaccinia	9.7
24	influenza	9.7
25	neuropathy	9.7
26	chronic graft versus host disease	9.7
27	pachygyria	9.7

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

Sources

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 Source Accession
1	severe visual impairment ³²	HP:0001141
2	congenital nuclear cataract ³²	HP:0008024
3	sutural cataract ³²	HP:0010695

Sources

Drugs & Therapeutics for Cataract 40

Search Clinical Trials , NIH Clinical Center for Cataract 40

Sources

Genetic Tests for Cataract 40

Genetic tests related to Cataract 40:

#	Genetic test	Affiliating Genes
1	Cataract 40 ²⁹	NHS

Sources

Anatomical Context for Cataract 40

MalaCards organs/tissues related to Cataract 40:

⁴¹

Eye

Sources

Publications for Cataract 40

Articles related to Cataract 40:

#	Title	Authors	Year
1	Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. ( 1969135 )	Lewis R.A....Stambolian D.	1990

Sources

Genes for Cataract 40

Genes related to Cataract 40 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NHS	NHS Actin Remodeling Regulator	Protein Coding	1026.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries (show sections)	11836358 15370543 19414485

Sources

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

Sources

Expression for Cataract 40

Search GEO for disease gene expression data for Cataract 40.

Sources

Pathways for Cataract 40

Sources

GO Terms for Cataract 40

Sources

Sources for Cataract 40

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia