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 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Ccmd ⁵⁸ ⁷⁶

Dystrophy, Macular, with Central Cone Involvement ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

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 ⁵⁸ 616170

MeSH ⁴⁵ D005128

MedGen ⁴³ C4015371 CN224989

SNOMED-CT via HPO ⁷⁰ 13164000 258211005 302200001 more

UMLS ⁷⁴ C4015371

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Summaries for Macular Dystrophy with Central Cone Involvement

UniProtKB/Swiss-Prot : ⁷⁶ 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 optic disc pallor and bull's eye maculopathy

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	10.1
2	personality disorder	10.1

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Symptoms & Phenotypes for Macular Dystrophy with Central Cone Involvement

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

³³

#	Description	HPO Frequency	HPO Source Accession
1	optic disc pallor ³³	occasional (7.5%)	HP:0000543
2	bull's eye maculopathy ³³	occasional (7.5%)	HP:0011504
3	reduced visual acuity ³³		HP:0007663
4	central scotoma ³³		HP:0000603
5	macular dystrophy ³³		HP:0007754

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰	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:

⁴²

Eye, Testes

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Publications for Macular Dystrophy with Central Cone Involvement

Articles related to Macular Dystrophy with Central Cone Involvement:

(show all 11)

#	Title	Authors	Year
1	Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. ( 25227500 )	Roosing S...Hoyng CB	2015
2	Are DSM-IV-TR borderline personality disorder, ICD-10 emotionally unstable personality disorder, and CCMD-III impulsive personality disorder analogous diagnostic categories across psychiatric nomenclatures? ( 22867506 )	Lai CM...Cheung F	2012
3	Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. ( 19177532 )	Aiello C...Santorelli FM	2009
4	Topology and function of CcmD in cytochrome c maturation. ( 18326572 )	Richard-Fogal CL...Kranz RG	2008
5	Chinese psychiatrists views on global features of CCMD-III, ICD-10 and DSM-IV. ( 23050999 )	Zou YZ...Fan HZ	2008
6	The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. ( 17564970 )	Siintola E...Lehesjoki AE	2007
7	CcmD is involved in complex formation between CcmC and the heme chaperone CcmE during cytochrome c maturation. ( 15513913 )	Ahuja U...Th?ny-Meyer L	2005
8	Chinese classification of mental disorders (CCMD-3): towards integration in international classification. ( 12145505 )	Chen YF	2002
9	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
10	Cultures in psychiatric nosology: the CCMD-2-R and international classification of mental disorders. ( 8989986 )	Lee S	1996
11	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	1328.49	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25227500 17564970 19177532

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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:

⁷⁶

#	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 (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150418024	GRCh38	Chromosome 4, 127921956: 127921956
2	MFSD8	NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	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
7	MFSD8	NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs724159971	GRCh37	Chromosome 4, 128841898: 128841898
8	MFSD8	NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs724159971	GRCh38	Chromosome 4, 127920743: 127920743
9	MFSD8	NM_152778.2(MFSD8): c.863C> T (p.Thr288Ile)	single nucleotide variant	Uncertain significance	rs755384900	GRCh37	Chromosome 4, 128854140: 128854140
10	MFSD8	NM_152778.2(MFSD8): c.863C> T (p.Thr288Ile)	single nucleotide variant	Uncertain significance	rs755384900	GRCh38	Chromosome 4, 127932985: 127932985
11	MFSD8	NM_152778.2(MFSD8): c.677T> C (p.Ile226Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200591471	GRCh37	Chromosome 4, 128861029: 128861029
12	MFSD8	NM_152778.2(MFSD8): c.677T> C (p.Ile226Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200591471	GRCh38	Chromosome 4, 127939874: 127939874
13	MFSD8	NM_152778.2(MFSD8): c.343G> A (p.Val115Met)	single nucleotide variant	Uncertain significance	rs183450731	GRCh38	Chromosome 4, 127943848: 127943848
14	MFSD8	NM_152778.2(MFSD8): c.343G> A (p.Val115Met)	single nucleotide variant	Uncertain significance	rs183450731	GRCh37	Chromosome 4, 128865003: 128865003
15	MFSD8	NM_152778.2(MFSD8): c.5C> T (p.Ala2Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 4, 128886284: 128886284
16	MFSD8	NM_152778.2(MFSD8): c.5C> T (p.Ala2Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 4, 127965129: 127965129

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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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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

Human phenotypes related to Macular Dystrophy with Central Cone Involvement:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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