Amelogenesis Imperfecta Local Hypoplastic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Amelogenesis Imperfecta Local Hypoplastic

MalaCards integrated aliases for Amelogenesis Imperfecta Local Hypoplastic:

Name: Amelogenesis Imperfecta Local Hypoplastic ²⁰ ⁶

Local Hypoplastic Amelogenesis Imperfecta ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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Summaries for Amelogenesis Imperfecta Local Hypoplastic

MalaCards based summary : Amelogenesis Imperfecta Local Hypoplastic, also known as local hypoplastic amelogenesis imperfecta, is related to amelogenesis imperfecta, type ic and hypoplastic amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta Local Hypoplastic is LAMB3 (Laminin Subunit Beta 3).

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Related Diseases for Amelogenesis Imperfecta Local Hypoplastic

Diseases related to Amelogenesis Imperfecta Local Hypoplastic via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	amelogenesis imperfecta, type ic	11.7
2	hypoplastic amelogenesis imperfecta	11.4
3	amelogenesis imperfecta, type ia	10.2
4	amelogenesis imperfecta	10.2

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Symptoms & Phenotypes for Amelogenesis Imperfecta Local Hypoplastic

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Drugs & Therapeutics for Amelogenesis Imperfecta Local Hypoplastic

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta Local Hypoplastic

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Genetic Tests for Amelogenesis Imperfecta Local Hypoplastic

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Anatomical Context for Amelogenesis Imperfecta Local Hypoplastic

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Publications for Amelogenesis Imperfecta Local Hypoplastic

Articles related to Amelogenesis Imperfecta Local Hypoplastic:

#	Title	Authors	PMID	Year
1	Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. ⁶	Poulter JA...Mighell AJ	23632796	2014
2	LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. ⁶	Kim JW...Hu JC	23958762	2013
3	Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. ⁶	Kim JW...Hu JC	16674655	2006
4	Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. ⁶¹	Mardh CK...Forsman-Semb K	11330937	2001
5	Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. ⁶¹	Dong J...MacDougall M	11037750	2000
6	Cloning, characterization and immunolocalization of human ameloblastin. ⁶¹	MacDougall M...Berdal A	10946765	2000
7	Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. ⁶¹	Karrman C...Forsman K	9027503	1997
8	Amelogenesis imperfecta: local hypoplastic type with pulpal calcification. ⁶¹	Gertzman GB...Quinn I	292722	1979

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Genes for Amelogenesis Imperfecta Local Hypoplastic

Genes related to Amelogenesis Imperfecta Local Hypoplastic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LAMB3	Laminin Subunit Beta 3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	23632796 16674655 23958762

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Variations for Amelogenesis Imperfecta Local Hypoplastic

ClinVar genetic disease variations for Amelogenesis Imperfecta Local Hypoplastic:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LAMB3	NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	Deletion	Pathogenic	180675	rs1553275034	1:209788682-209788689	1:209615337-209615344
2	LAMB3	NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)	SNV	Pathogenic	180676	rs869320671	1:209788704-209788704	1:209615359-209615359
3	LAMB3	NM_000228.3(LAMB3):c.3383-1G>A	SNV	Pathogenic	393553	rs1553275070	1:209788753-209788753	1:209615408-209615408
4	LAMB3	NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	SNV	Pathogenic	14539	rs80356682	1:209799066-209799066	1:209625721-209625721
5	LAMB3	NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)	Duplication	Pathogenic	180677	rs786201004	1:209788740-209788741	1:209615395-209615396
6	LAMB3	NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	SNV	Pathogenic	14541	rs80356680	1:209823368-209823368	1:209650023-209650023
7	LAMB3	NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	SNV	Pathogenic	372402	rs774174881	1:209803197-209803197	1:209629852-209629852
8	LAMB3	NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)	SNV	Pathogenic	393554	rs1553275195	1:209789858-209789858	1:209616513-209616513
9	LAMB3	NM_000228.3(LAMB3):c.1288+1G>T	SNV	Likely pathogenic	551396	rs1186161867	1:209801379-209801379	1:209628034-209628034

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Expression for Amelogenesis Imperfecta Local Hypoplastic

Search GEO for disease gene expression data for Amelogenesis Imperfecta Local Hypoplastic.

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Pathways for Amelogenesis Imperfecta Local Hypoplastic

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GO Terms for Amelogenesis Imperfecta Local Hypoplastic

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