Cone-Rod Dystrophy 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cone-Rod Dystrophy 18

MalaCards integrated aliases for Cone-Rod Dystrophy 18:

Name: Cone-Rod Dystrophy 18 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Cord18 ⁵⁶ ¹² ⁷³

Dystrophy, Cone-Rod, Type 18 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the second decade of life

HPO:

³¹

cone-rod dystrophy 18:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111024

OMIM ⁵⁶ 615374

OMIM Phenotypic Series ⁵⁶ PS120970

MeSH ⁴³ D058499

MedGen ⁴¹ C3809299 CN178852

SNOMED-CT via HPO ⁶⁸ 258211005 28835009 312917007 more

UMLS ⁷¹ C3809299

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Summaries for Cone-Rod Dystrophy 18

UniProtKB/Swiss-Prot : ⁷³ Cone-rod dystrophy 18: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 18, also known as cord18, is related to weyers acrofacial dysostosis and retinitis pigmentosa 28. An important gene associated with Cone-Rod Dystrophy 18 is RAB28 (RAB28, Member RAS Oncogene Family), and among its related pathways/superpathways is Intraflagellar transport. Related phenotypes are foveal atrophy and cone/cone-rod dystrophy

Disease Ontology : ¹² A cone-rod dystrophy that has material basis in homozygous mutation in the RAB28 gene on chromosome 4p15.

More information from OMIM: 615374 PS120970

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Related Diseases for Cone-Rod Dystrophy 18

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1	Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6	Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3	Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13	Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11	Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9	Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16	Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18	Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20	Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 18 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	weyers acrofacial dysostosis	9.9	C5orf49 C4orf47
2	retinitis pigmentosa 28	9.9	RAB28 POC1B
3	van der woude syndrome 1	9.8	CFAP57 C5orf49
4	joubert syndrome 17	9.5	TRAF3IP1 CLUAP1
5	cone-rod dystrophy 16	9.4	TTLL10 RAB28 POC1B CEP78
6	fundus dystrophy	8.8	TTLL10 RAB28 POC1B CLUAP1 CEP78

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 18:

Sources

Symptoms & Phenotypes for Cone-Rod Dystrophy 18

Human phenotypes related to Cone-Rod Dystrophy 18:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	foveal atrophy ³¹	occasional (7.5%)	HP:0025010
2	cone/cone-rod dystrophy ³¹		HP:0000548
3	high myopia ³¹		HP:0011003
4	central scotoma ³¹		HP:0000603
5	foveal hyperpigmentation ³¹		HP:0008001

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
high myopia
central scotoma
foveal hyperpigmentation
decreased visual acuity, rapidly progressive
foveal hyperfluorescence
more

Clinical features from OMIM:

615374

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Drugs & Therapeutics for Cone-Rod Dystrophy 18

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 18

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Genetic Tests for Cone-Rod Dystrophy 18

Genetic tests related to Cone-Rod Dystrophy 18:

#	Genetic test	Affiliating Genes
1	Cone-Rod Dystrophy 18 ²⁹	RAB28

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Anatomical Context for Cone-Rod Dystrophy 18

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Publications for Cone-Rod Dystrophy 18

Articles related to Cone-Rod Dystrophy 18:

#	Title	Authors	PMID	Year
1	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. ⁵⁶ ⁶	Riveiro-Alvarez R...Allikmets R	25356532	2015
2	Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. ⁵⁶ ⁶	Roosing S...den Hollander AI	23746546	2013
3	Cone rod dystrophies. ⁶	Hamel CP	17270046	2007
4	HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. ⁶	Kobayashi A...Inana G	11006213	2000
5	The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium. ⁶¹	Ying G...Baehr W	30228185	2018

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Genes for Cone-Rod Dystrophy 18

Genes related to Cone-Rod Dystrophy 18 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	1025.73	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25356532 23746546
2	CFAP57	Cilia And Flagella Associated Protein 57	Protein Coding	7.1	DISEASES inferred ¹⁵
3	C5orf49	Chromosome 5 Open Reading Frame 49	Protein Coding	6.92	DISEASES inferred ¹⁵
4	TTC25	Tetratricopeptide Repeat Domain 25	Protein Coding	6.75	DISEASES inferred ¹⁵
5	ENKUR	Enkurin, TRPC Channel Interacting Protein	Protein Coding	6.72	DISEASES inferred ¹⁵
6	CEP78	Centrosomal Protein 78	Protein Coding	6.65	DISEASES inferred ¹⁵
7	C4orf47	Chromosome 4 Open Reading Frame 47	Protein Coding	6.5	DISEASES inferred ¹⁵
8	TTLL10	Tubulin Tyrosine Ligase Like 10	Protein Coding	6.49	DISEASES inferred ¹⁵
9	CCDC96	Coiled-Coil Domain Containing 96	Protein Coding	6.49	DISEASES inferred ¹⁵
10	POC1B	POC1 Centriolar Protein B	Protein Coding	6.47	DISEASES inferred ¹⁵
11	ZMYND12	Zinc Finger MYND-Type Containing 12	Protein Coding	6.41	DISEASES inferred ¹⁵
12	CLUAP1	Clusterin Associated Protein 1	Protein Coding	6.39	DISEASES inferred ¹⁵
13	TRAF3IP1	TRAF3 Interacting Protein 1	Protein Coding	6.38	DISEASES inferred ¹⁵

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Variations for Cone-Rod Dystrophy 18

ClinVar genetic disease variations for Cone-Rod Dystrophy 18:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAB28	NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter)	SNV	Pathogenic	60754	rs786200944	4:13378177-13378177	4:13376553-13376553
2	RAB28	NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)	SNV	Pathogenic	60755	rs398123044	4:13383201-13383201	4:13381577-13381577
3	RAB28	NM_001017979.3(RAB28):c.574-1238T>G	SNV	Pathogenic	225879	rs751163782	4:13371512-13371512	4:13369888-13369888
4	RAB28	NM_001017979.3(RAB28):c.172+1G>C	SNV	Pathogenic	225878	rs875989778	4:13481053-13481053	4:13479429-13479429
5	RAB28	NM_001017979.3(RAB28):c.355_356del (p.Glu119fs)	deletion	Likely pathogenic	623218	rs1560141393	4:13462358-13462359	4:13460734-13460735

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Expression for Cone-Rod Dystrophy 18

Search GEO for disease gene expression data for Cone-Rod Dystrophy 18.

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Pathways for Cone-Rod Dystrophy 18

Pathways related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Intraflagellar transport ⁶⁵	10.24	TRAF3IP1 CLUAP1

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GO Terms for Cone-Rod Dystrophy 18

Cellular components related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.7	TTC25 TRAF3IP1 RAB28 POC1B CEP78 CCDC96
2	microtubule organizing center	GO:0005815	9.67	POC1B CEP78 CCDC96 C4orf47
3	centrosome	GO:0005813	9.65	TRAF3IP1 POC1B CLUAP1 CEP78 C4orf47
4	cilium	GO:0005929	9.62	TRAF3IP1 ENKUR CLUAP1 CEP78
5	ciliary tip	GO:0097542	9.43	TRAF3IP1 CLUAP1
6	intraciliary transport particle B	GO:0030992	9.4	TRAF3IP1 CLUAP1
7	ciliary basal body	GO:0036064	9.26	TRAF3IP1 RAB28 POC1B CEP78
8	cell projection	GO:0042995	9.17	TTC25 TRAF3IP1 RAB28 POC1B ENKUR CLUAP1

Biological processes related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intraciliary transport involved in cilium assembly	GO:0035735	9.16	TRAF3IP1 CLUAP1
2	cilium assembly	GO:0060271	9.13	TRAF3IP1 POC1B CLUAP1
3	cell projection organization	GO:0030030	8.92	TRAF3IP1 POC1B CLUAP1 CEP78

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Sources for Cone-Rod Dystrophy 18

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³⁵ IUPHAR

³⁶ KEGG

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⁵⁶ OMIM

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cone-Rod Dystrophy 18 (CORD18)

Aliases & Classifications for Cone-Rod Dystrophy 18

MalaCards integrated aliases for Cone-Rod Dystrophy 18:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cone-Rod Dystrophy 18

Related Diseases for Cone-Rod Dystrophy 18

Diseases in the Cone-Rod Dystrophy 2 family:

Diseases related to Cone-Rod Dystrophy 18 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 18:

Symptoms & Phenotypes for Cone-Rod Dystrophy 18

Human phenotypes related to Cone-Rod Dystrophy 18:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cone-Rod Dystrophy 18

Genetic Tests for Cone-Rod Dystrophy 18

Genetic tests related to Cone-Rod Dystrophy 18:

Anatomical Context for Cone-Rod Dystrophy 18

Publications for Cone-Rod Dystrophy 18

Articles related to Cone-Rod Dystrophy 18:

Genes for Cone-Rod Dystrophy 18

Genes related to Cone-Rod Dystrophy 18 (1 elite genes):

Variations for Cone-Rod Dystrophy 18

ClinVar genetic disease variations for Cone-Rod Dystrophy 18:

Expression for Cone-Rod Dystrophy 18

Pathways for Cone-Rod Dystrophy 18

Pathways related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

GO Terms for Cone-Rod Dystrophy 18

Cellular components related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

Biological processes related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

Sources for Cone-Rod Dystrophy 18