Entry - #614284 - STICKLER SYNDROME, TYPE V; STL5 - OMIM - (OMIM.ORG) <sup dir="rByKAyk"></sup>

 
ICD+
# 614284

STICKLER SYNDROME, TYPE V; STL5 (VSports)


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1p34.2 ?Stickler syndrome, type V 614284 AR 3 COL9A2 120260
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005] [UMLS: C0441748 HPO: HP:0000007] [HPO: HP:0000007] GROWTH Height - Short stature in childhood [SNOMEDCT: 735643002] [UMLS: C2674444] - Adult height, average [UMLS: C3280343] HEAD & NECK Ears - Hearing loss, sensorineural, mild to moderate [UMLS: C1860299] [SNOMEDCT: 60700002] [ICD10CM: H90. 5] [ICD9CM: 389. 1, 389. 10] [HPO: HP:0000407] Eyes - High myopia [SNOMEDCT: 34187009] [UMLS: C0271183 HPO: HP:0011003] [HPO: HP:0011003] - Vitreoretinal degeneration [SNOMEDCT: 247182006] [UMLS: C0344290 HPO: HP:0007773] [HPO: HP:0007773] - Retinal detachment [SNOMEDCT: 42059000] [ICD10CM: H33. 2] [ICD9CM: 361. 9] [UMLS: C0035305 HPO: HP:0000541] [HPO: HP:0000541] MOLECULAR BASIS - Caused by mutation in the alpha-2 subunit of collagen type IX gene (COL9A2, 120260. 0006) ▲ Close Stickler syndrome - PS108300 - 6 Entries Location Phenotype Inheritance Phenotypemapping key PhenotypeMIM number Gene/Locus Gene/LocusMIM number 1p34. 2 . Stickler syndrome, type V AR 3 614284 COL9A2 120260 1p21 VSports app下载. 1 Stickler syndrome, type II AD 3 604841 COL11A1 120280 6q13 Stickler syndrome, type IV AR 3 614134 COL9A1 120210 12q13. 11 Stickler syndrome, type I AD 3 108300 COL2A1 120140 12q13. 11 Stickler syndrome, type I, nonsyndromic ocular AD 3 609508 COL2A1 120140 20q13. 33 Stickler syndrome, type VI AR 3 620022 COL9A3 120270 ▲ Close ▼ TEXT A number sign (#) is used with this entry because of evidence that Stickler syndrome type V (STL5) is caused by homozygous mutation in the COL9A2 gene (120260) on chromosome 1p34. One such family has been reported.

For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300.


▼ Clinical Features

Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome. Affected family members had high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. None of the family members was known to have cleft palate, and although there was short stature in childhood, adult height was thought to be appropriate for this family VSports手机版. .

▼ Molecular Genetics

In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260 V体育安卓版. 0006) in an affected sister and brother. The deletion was present in heterozygosity in the unaffected brother and parents. .

▼ REFERENCES

Baker, S. , Booth, C V体育ios版. , Fillman, C. , Shapiro, M. , Blair, M. P. , Hyland, J. C. , Ala-Kokko, L. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. Am. J. Med. Genet. 155A: 1668-1672, 2011. [PubMed: 21671392, related citations] [Full Text] .


Creation Date:
Marla J. F. O'Neill : 10/7/2011
Edit History:
carol : 07/13/2017
carol : 01/05/2015
joanna : 10/10/2011
alopez : 10/7/2011

# 614284

VSports手机版 - STICKLER SYNDROME, TYPE V; STL5


ORPHA: 250984, 828;   MONDO: 0013666;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1p34.2 ?Stickler syndrome, type V 614284 Autosomal recessive 3 COL9A2 120260

TEXT

A number sign (#) is used with this entry because of evidence that Stickler syndrome type V (STL5) is caused by homozygous mutation in the COL9A2 gene (120260) on chromosome 1p34 V体育平台登录. One such family has been reported.

For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300.

Clinical Features

Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome V体育官网入口. Affected family members had high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. None of the family members was known to have cleft palate, and although there was short stature in childhood, adult height was thought to be appropriate for this family. .

Molecular Genetics

In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260. 0006) in an affected sister and brother. The deletion was present in heterozygosity in the unaffected brother and parents VSports在线直播. .

REFERENCES

Baker, S. , Booth, C. , Fillman, C. , Shapiro, M. , Blair, M. P. , Hyland, J. C. , Ala-Kokko, L V体育2025版. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. Am. J. Med. Genet. 155A: 1668-1672, 2011. [PubMed: 21671392] [Full Text: https://doi. org/10. 1002/ajmg. a. 34071] .


Creation Date:
Marla J. F. O'Neill : 10/7/2011

Edit History:
carol : 07/13/2017
carol : 01/05/2015
joanna : 10/10/2011
alopez : 10/7/2011



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