Entry - %301201 - AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 - OMIM

 
ICD+
% 301201

AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2


Alternative titles; symbols

AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY; AIH3, FORMERLY
ENAMEL HYPOPLASIA, X-LINKED 2


Cytogenetic location: Xq22-q28     Genomic coordinates (GRCh38): X:99,100,001-156,040,895


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq22-q28 ?Amelogenesis imperfecta, type IE, X-linked 2 301201 XL 2
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- X-linked
HEAD & NECK
Teeth
- Amelogenesis imperfecta, hypoplastic
▲ Close
Amelogenesis imperfecta - PS104500 - 20 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q32.2 Amelogenesis imperfecta, type IA AD 3 104530 LAMB3 150310
2q24.2 Amelogenesis imperfecta, type IH AR 3 616221 ITGB6 147558
4q13.3 ?Amelogenesis imperfecta, type IIIB AD 3 617607 AMTN 610912
4q13.3 Amelogenesis imperfecta, type IF AR 3 616270 AMBN 601259
4q13.3 Amelogenesis imperfecta, type IC AR 3 204650 ENAM 606585
4q13.3 Amelogenesis imperfecta, type IB AD 3 104500 ENAM 606585
4q21.1 Amelogenesis imperfecta, type IIA4 AR 3 614832 ODAPH 614829
8q24.3 Amelogenesis imperfecta, type IIIA AD 3 130900 FAM83H 611927
11q13.4 Amelogenesis imperfecta, type IIIC AR 3 618386 RELT 611211
11q22.2 Amelogenesis imperfecta, type IIA2 AR 3 612529 MMP20 604629
14q32.11 Amelogenesis imperfecta, hypomaturation type, IIA6 AR 3 617217 GPR68 601404
14q32.12 Amelogenesis imperfecta, type IIA5 AR 3 615887 SLC24A4 609840
15q21.3 Amelogenesis imperfecta, type IIA3 AR 3 613211 WDR72 613214
17q21.32 Amelogenesis imperfecta, type IK AD 3 620104 SP6 608613
17q21.33 Amelogenesis imperfecta, type IV AD 3 104510 DLX3 600525
17q24.2 Amelogenesis imperfecta, type IG (enamel-renal syndrome) AR 3 204690 FAM20A 611062
19q13.33 Amelogenesis imperfecta, type IJ AR 3 617297 ACP4 606362
19q13.41 Amelogenesis imperfecta, type IIA1 AR 3 204700 KLK4 603767
Xp22.2 Amelogenesis imperfecta, type 1E XLD 3 301200 AMELX 300391
Xq22-q28 ?Amelogenesis imperfecta, type IE, X-linked 2 XL 2 301201 AI1E2 301201
▲ Close

▼ TEXT

For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see 301200.

▼ Mapping

See 301200 for description of findings in a family suggesting that one form of amelogenesis imperfecta is determined by a mutation in a gene in the Xq22-q28 region (Aldred et al., 1992). This gene may be another reflection of homeology of portions of the 2 arms of the X chromosome resulting from an ancient duplication.


▼ REFERENCES

  1. Aldred, M. J., Crawford, P. J. M., Roberts, E., Gillespie, C. M., Thomas, N. S. T., Fenton, I., Sandkuijl, L. A., Harper, P. S. Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 14: 567-573, 1992. [PubMed: 1358807, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 11/5/1992
Edit History:
carol : 04/12/2024
carol : 04/05/2012
carol : 3/23/2006
carol : 3/17/2006
joanna : 3/17/2006
carol : 3/18/2004
dkim : 7/17/1998
carol : 5/11/1994
mimadm : 2/27/1994
carol : 11/6/1992
carol : 11/5/1992

% 301201

AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2


Alternative titles; symbols

AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY; AIH3, FORMERLY
ENAMEL HYPOPLASIA, X-LINKED 2


ORPHA: 100031, 88661;   DO: 0110059;  


Cytogenetic location: Xq22-q28     Genomic coordinates (GRCh38): X:99,100,001-156,040,895


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq22-q28 ?Amelogenesis imperfecta, type IE, X-linked 2 301201 X-linked 2

TEXT

For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see 301200.

Mapping

See 301200 for description of findings in a family suggesting that one form of amelogenesis imperfecta is determined by a mutation in a gene in the Xq22-q28 region (Aldred et al., 1992). This gene may be another reflection of homeology of portions of the 2 arms of the X chromosome resulting from an ancient duplication.


REFERENCES

  1. Aldred, M. J., Crawford, P. J. M., Roberts, E., Gillespie, C. M., Thomas, N. S. T., Fenton, I., Sandkuijl, L. A., Harper, P. S. Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 14: 567-573, 1992. [PubMed: 1358807] [Full Text: https://doi.org/10.1016/s0888-7543(05)80153-3]


Creation Date:
Victor A. McKusick : 11/5/1992

Edit History:
carol : 04/12/2024
carol : 04/05/2012
carol : 3/23/2006
carol : 3/17/2006
joanna : 3/17/2006
carol : 3/18/2004
dkim : 7/17/1998
carol : 5/11/1994
mimadm : 2/27/1994
carol : 11/6/1992
carol : 11/5/1992



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 28, 2024