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	meesmann corneal dystrophy

Disease ID	566
Disease	meesmann corneal dystrophy
Definition	An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.
Synonym	corneal dystrophies, meesmann corneal dystrophy, juvenile epithelial of meesmann corneal dystrophy, juvenile epithelial of meesmann [disease/finding] corneal dystrophy, juvenile epithelial, of meesmann corneal dystrophy, meesmann corneal dystrophy, meesmann epithelial dystrophies, meesmann corneal juv epith cornea dystrph juvenile epithelial corneal dystrophy juvenile epithelial corneal dystrophy (disorder) juvenile epithelial of meesmann corneal dystrophy juvenile hereditary epithelial dystrophy mecd meesman's corneal dystrophy meesman's epithelial corneal dystrophy meesmann corneal dystrophies meesmann corneal epithelial dystrophy meesmann epithelial corneal dystrophy
Orphanet	ORPHANET:98954
OMIM	OMIM:122100
DOID	DOID:0060451
UMLS	C0339277
MeSH	D053559
SNOMED-CT	SNOMEDCT_US_2016_09_01:1674008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3859 \| KRT12 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 3850 \| KRT3 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:15) 176 \| ACAN \| 1.719 \| DISEASES 11176 \| BAZ2A \| 4.204 \| DISEASES 29126 \| CD274 \| 1.277 \| DISEASES 22995 \| CEP152 \| 4.173 \| DISEASES 4166 \| CHST6 \| 3.345 \| DISEASES 54875 \| CNTLN \| 2.922 \| DISEASES 1280 \| COL2A1 \| 1.994 \| DISEASES 2934 \| GSN \| 1.957 \| DISEASES 3850 \| KRT3 \| 6.082 \| DISEASES 26151 \| NAT9 \| 2.412 \| DISEASES 83695 \| RHNO1 \| 1.769 \| DISEASES 6303 \| SAT1 \| 2.639 \| DISEASES 8651 \| SOCS1 \| 1.776 \| DISEASES 4070 \| TACSTD2 \| 2.601 \| DISEASES 7045 \| TGFBI \| 3.181 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) KRT12 \| 17q21.2 KRT3 \| 12q13.13

Disease ID	566
Disease	meesmann corneal dystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0007856 \| Punctate corneal opacities HP:0001131 \| Corneal dystrophy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000613 \| Extreme light sensitivity \| 1

Disease ID	566
Disease	meesmann corneal dystrophy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:22)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs267607431	NA	3850	KRT3	umls:C0339277	CLINVAR	NA	0.481085767	NA	KRT3	12	52791248	T	A
rs28936695	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40866801	A	G
rs28936695	16352477	3859	KRT12	umls:C0339277	UNIPROT	Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.	0.490073144	2005	KRT12;LOC105371777	17	40866801	A	G
rs57218384	9171831	3859	KRT12	umls:C0339277	UNIPROT	Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.	0.490073144	1997	KRT12;LOC105371777	17	40866783	C	G,A
rs57218384	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40866783	C	G,A
rs57872071	NA	3850	KRT3	umls:C0339277	CLINVAR	NA	0.481085767	NA	KRT3	12	52791216	C	T
rs57872071	9171831	3850	KRT3	umls:C0339277	UNIPROT	Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.	0.481085767	1997	KRT3	12	52791216	C	T
rs58038639	12543196	3859	KRT12	umls:C0339277	UNIPROT	Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.	0.490073144	2002	KRT12;LOC105371777	17	40866778	C	G
rs58162394	9399908	3859	KRT12	umls:C0339277	UNIPROT	Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.	0.490073144	1997	KRT12;LOC105371777	17	40863154	A	C
rs58162394	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40863154	A	C
rs58343600	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40866760	C	G,A
rs58343600	18245975	3859	KRT12	umls:C0339277	UNIPROT	A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.	0.490073144	2008	KRT12;LOC105371777	17	40866760	C	G,A
rs58410481	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40866784	T	C
rs58410481	9399908	3859	KRT12	umls:C0339277	UNIPROT	Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.	0.490073144	1997	KRT12;LOC105371777	17	40866784	T	C
rs58864803	10781519	3859	KRT12	umls:C0339277	UNIPROT	A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.	0.490073144	2000	KRT12;LOC105371777	17	40866798	T	G
rs58918655	NA	3859	KRT12	umls:C0339277	CLINVAR	NA	0.490073144	NA	KRT12;LOC105371777	17	40866768	A	C
rs58918655	9399908	3859	KRT12	umls:C0339277	UNIPROT	Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.	0.490073144	1997	KRT12;LOC105371777	17	40866768	A	C
rs59202432	16227835	3859	KRT12	umls:C0339277	UNIPROT	Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.	0.490073144	2005	KRT12;LOC105371777	17	40863153	T	C
rs59350319	16352477	3859	KRT12	umls:C0339277	UNIPROT	Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.	0.490073144	2005	KRT12;LOC105371777	17	40863162	A	C
rs60410063	16227835	3850	KRT3	umls:C0339277	UNIPROT	Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.	0.481085767	2005	KRT3	12	52791233	C	T,G,A
rs60410063	NA	3850	KRT3	umls:C0339277	CLINVAR	NA	0.481085767	NA	KRT3	12	52791233	C	T,G,A
rs61282718	15148206	3859	KRT12	umls:C0339277	UNIPROT	A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.	0.490073144	2004	KRT12;LOC105371777	17	40866782	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007856	Punctate opacification of the cornea	MP:0005543	decreased cornea thickness	decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001131	Corneal dystrophy	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0007856	Punctate opacification of the cornea	MP:0011110	preweaning lethality, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)

Disease ID	566
Disease	meesmann corneal dystrophy
Case	(Waiting for update.)