Entry - %610753 - ALOPECIA AREATA 2; AA2 - OMIM - (OMIM.ORG)

 
ICD+
% 610753

"V体育平台登录" ALOPECIA AREATA 2; AA2


Cytogenetic location: 16q11-q22   Genomic coordinates (GRCh38) : 16:36,800,001-74,100,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16q11-q22 Alopecia areata 2 610753 AD, AR 2
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE - Autosomal dominant [SNOMEDCT: 263681008, 771269000] [UMLS: C1867440, C0443147 HPO: HP:0000006] [HPO: HP:0000006] - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007] SKIN, NAILS, & HAIR Hair - Well-circumscribed patches of hair loss on scalp [UMLS: C4315007] - Alopecia universalis [SNOMEDCT: 86166000] [ICD10CM: L63. 1] [UMLS: C0263505 HPO: HP:0002289] [HPO: HP:0002289] - Selective loss of pigmented hair [UMLS: C4315006] MISCELLANEOUS - Incomplete penetrance [UMLS: C1836598 HPO: HP:0003829] [HPO: HP:0003829] - Autosomal dominant and recessive models are under consideration - Onset of disease can be sudden and the progression of the disorder unpredictable ▲ Close Alopecia, isolated - PS203655 - 8 Entries Location Phenotype Inheritance Phenotypemapping key PhenotypeMIM number Gene/Locus Gene/LocusMIM number 3q26 Alopecia, androgenetic, 1 AD 2 109200 AGA1 109200 8p21. 3 Alopecia universalis AR 3 203655 HR 602302 16q11-q22 Alopecia areata 2 AD, AR 2 610753 AA2 610753 18p11. 3-p11 V体育官网. 2 Alopecia areata 1 Mu 2 104000 AA1 104000 20p11. 22 Alopecia, androgenetic, 3 2 612421 AGA3 612421 Xq11-q12 Alopecia, androgenetic, 2 2 300710 AGA2 300710 Not Mapped Alopecia, focal AD 104110 ALPF 104110 Not Mapped Alopecia, congenital XL 300042 ALPC 300042 ▲ Close ▼ TEXT For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see 104000.


▼ Mapping

In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel. The analysis revealed evidence of at least 4 susceptibility loci on chromosome 6, 10, 16, and 18 using several different statistical approaches VSports手机版. Fine-mapping analysis with additional families yielded a maximum multipoint lod score of 3. 93 on chromosome 18 (AA1; 104000), a 2-point affected sib pair (ASP) lod score of 3. 11 on chromosome 16 at marker D16S415 (AA2), several ASP lod scores greater than 2. 00 on chromosome 6q, and a haplotype-based relative risk lod of 2. 00 on chromosome 6p, in the major histocompatibility complex locus. .

▼ REFERENCES

Martinez-Mir, A. , Zlotogorski, A. , Gordon, D. , Petukhova, L. , Mo, J. , Gilliam, T. C. , Londono, D. , Haynes, C. , Ott, J. , Hordinsky, M. , Nanova, K. , Norris, D. , Price, V. , Duvic, M V体育安卓版. , Christiano, A. M. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am. J. Hum. Genet. 80: 316-328, 2007. [PubMed: 17236136, images, related citations] [Full Text] .


Creation Date:
Victor A. McKusick : 2/12/2007
Edit History:
carol : 03/25/2015
alopez : 9/29/2010
terry : 9/27/2010
alopez : 2/12/2007
alopez : 2/12/2007

% 610753

ALOPECIA AREATA 2; AA2


ORPHA: 700, 701;   DO: 986;   MONDO: 0012551;  


Cytogenetic location: 16q11-q22   Genomic coordinates (GRCh38) : 16:36,800,001-74,100,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16q11-q22 Alopecia areata 2 610753 Autosomal dominant; Autosomal recessive 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see 104000.

Mapping

In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel. The analysis revealed evidence of at least 4 susceptibility loci on chromosome 6, 10, 16, and 18 using several different statistical approaches. Fine-mapping analysis with additional families yielded a maximum multipoint lod score of 3. 93 on chromosome 18 (AA1; 104000), a 2-point affected sib pair (ASP) lod score of 3. 11 on chromosome 16 at marker D16S415 (AA2), several ASP lod scores greater than 2. 00 on chromosome 6q, and a haplotype-based relative risk lod of 2. 00 on chromosome 6p, in the major histocompatibility complex locus. VSports注册入口.

REFERENCES

Martinez-Mir, A. , Zlotogorski, A. , Gordon, D. , Petukhova, L. , Mo, J. , Gilliam, T. C. , Londono, D. , Haynes, C V体育官网入口. , Ott, J. , Hordinsky, M. , Nanova, K. , Norris, D. , Price, V. , Duvic, M. , Christiano, A. M. Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am. J. Hum. Genet. 80: 316-328, 2007. [PubMed: 17236136] [Full Text: https://doi. org/10. 1086/511442] .


Creation Date:
Victor A. McKusick : 2/12/2007

Edit History:
carol : 03/25/2015
alopez : 9/29/2010
terry : 9/27/2010
alopez : 2/12/2007
alopez : 2/12/2007



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