Macular Dystrophy with Central Cone Involvement disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Macular Dystrophy with Central Cone Involvement

MalaCards integrated aliases for Macular Dystrophy with Central Cone Involvement:

Name: Macular Dystrophy with Central Cone Involvement ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Ccmd ⁵⁷ ⁷⁵

Dystrophy, Macular, with Central Cone Involvement ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in third to sixth decade of life

HPO:

³²

macular dystrophy with central cone involvement:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616170

MedGen ⁴² C4015371 CN224989

MeSH ⁴⁴ D005128

SNOMED-CT via HPO ⁶⁹ 258211005 302200001 38950008 more

UMLS ⁷³ C4015371

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Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : ⁷⁵ Macular dystrophy with central cone involvement: An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels.

MalaCards based summary : Macular Dystrophy with Central Cone Involvement, also known as ccmd, is related to borderline personality disorder and personality disorder. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). Affiliated tissues include eye and testes, and related phenotypes are reduced visual acuity and central scotoma

Description from OMIM: 616170

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Related Diseases for Macular Dystrophy with Central Cone Involvement

Diseases related to Macular Dystrophy with Central Cone Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	borderline personality disorder	10.2
2	personality disorder	10.2

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Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
decreased visual acuity
optic disc pallor (rare)
bull's eye maculopathy (in some patients)
profound atrophy in fovea (in some patients)
relative sparing of fovea with surrounding atrophic ring (in some patients)
more

Clinical features from OMIM:

616170

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

³²

#	Description	HPO Frequency	HPO Source Accession
1	reduced visual acuity ³²		HP:0007663
2	central scotoma ³²		HP:0000603
3	optic disc pallor ³²	occasional (7.5%)	HP:0000543
4	macular dystrophy ³²		HP:0007754
5	bull's eye maculopathy ³²	occasional (7.5%)	HP:0011504

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Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy with Central Cone Involvement

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Genetic Tests for Macular Dystrophy with Central Cone Involvement

Genetic tests related to Macular Dystrophy with Central Cone Involvement:

#	Genetic test	Affiliating Genes
1	Macular Dystrophy with Central Cone Involvement ²⁹	MFSD8

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Anatomical Context for Macular Dystrophy with Central Cone Involvement

MalaCards organs/tissues related to Macular Dystrophy with Central Cone Involvement:

⁴¹

Eye, Testes

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Publications for Macular Dystrophy with Central Cone Involvement

Articles related to Macular Dystrophy with Central Cone Involvement:

#	Title	Authors	Year
1	Chinese psychiatrists views on global features of CCMD-III, ICD-10 and DSM-IV. ( 23050999 )	Zou YZ...Fan HZ	2008
2	New insights into the role of CcmC, CcmD and CcmE in the haem delivery pathway during cytochrome c maturation by a complete mutational analysis of the conserved tryptophan-rich motif of CcmC. ( 10998170 )	Schulz H...Th?ny-Meyer L	2000
3	The CCRN-CCMD partnership: advancing the quality of patient care. ( 8226000 )	Spodick DH	1993

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Genes for Macular Dystrophy with Central Cone Involvement

Genes related to Macular Dystrophy with Central Cone Involvement (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	1328.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25227500

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Variations for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy with Central Cone Involvement:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MFSD8	p.Glu336Gln	VAR_072673	rs150418024

ClinVar genetic disease variations for Macular Dystrophy with Central Cone Involvement:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Benign	rs150418024	GRCh38	Chromosome 4, 127921956: 127921956
2	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Benign	rs150418024	GRCh37	Chromosome 4, 128843111: 128843111
3	MFSD8	NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter)	single nucleotide variant	Pathogenic	rs724159970	GRCh38	Chromosome 4, 127921733: 127921733
4	MFSD8	NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter)	single nucleotide variant	Pathogenic	rs724159970	GRCh37	Chromosome 4, 128842888: 128842888
5	MFSD8	NM_152778.2(MFSD8): c.1102G> C (p.Asp368His)	single nucleotide variant	Pathogenic	rs727502800	GRCh38	Chromosome 4, 127921860: 127921860
6	MFSD8	NM_152778.2(MFSD8): c.1102G> C (p.Asp368His)	single nucleotide variant	Pathogenic	rs727502800	GRCh37	Chromosome 4, 128843015: 128843015

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Expression for Macular Dystrophy with Central Cone Involvement

Search GEO for disease gene expression data for Macular Dystrophy with Central Cone Involvement.

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Pathways for Macular Dystrophy with Central Cone Involvement

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GO Terms for Macular Dystrophy with Central Cone Involvement

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Macular Dystrophy with Central Cone Involvement (CCMD)

Aliases & Classifications for Macular Dystrophy with Central Cone Involvement

MalaCards integrated aliases for Macular Dystrophy with Central Cone Involvement:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Macular Dystrophy with Central Cone Involvement

Related Diseases for Macular Dystrophy with Central Cone Involvement

Diseases related to Macular Dystrophy with Central Cone Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

Drugs & Therapeutics for Macular Dystrophy with Central Cone Involvement

Genetic Tests for Macular Dystrophy with Central Cone Involvement

Genetic tests related to Macular Dystrophy with Central Cone Involvement:

Anatomical Context for Macular Dystrophy with Central Cone Involvement

MalaCards organs/tissues related to Macular Dystrophy with Central Cone Involvement:

Publications for Macular Dystrophy with Central Cone Involvement

Articles related to Macular Dystrophy with Central Cone Involvement:

Genes for Macular Dystrophy with Central Cone Involvement

Genes related to Macular Dystrophy with Central Cone Involvement (1 elite genes):

Variations for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy with Central Cone Involvement:

ClinVar genetic disease variations for Macular Dystrophy with Central Cone Involvement:

Expression for Macular Dystrophy with Central Cone Involvement

Pathways for Macular Dystrophy with Central Cone Involvement

GO Terms for Macular Dystrophy with Central Cone Involvement

Sources for Macular Dystrophy with Central Cone Involvement