STL5
MCID: STC011
MIFTS: 21

Stickler Syndrome, Type V (STL5)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stickler Syndrome, Type V

MalaCards integrated aliases for Stickler Syndrome, Type V:

Name: Stickler Syndrome, Type V 56 13 39 71
Stickler Syndrome, Type 5 29 6
Stl5 56 73
Stickler Syndrome 5 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
stickler syndrome, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614284
OMIM Phenotypic Series 56 PS108300
MeSH 43 D003240
UMLS 71 C3280342

Summaries for Stickler Syndrome, Type V

UniProtKB/Swiss-Prot : 73 Stickler syndrome 5: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence.

MalaCards based summary : Stickler Syndrome, Type V, is also known as stickler syndrome, type 5. An important gene associated with Stickler Syndrome, Type V is COL9A2 (Collagen Type IX Alpha 2 Chain). Affiliated tissues include bone, and related phenotypes are short stature and sensorineural hearing impairment

More information from OMIM: 614284 PS108300

Related Diseases for Stickler Syndrome, Type V

Symptoms & Phenotypes for Stickler Syndrome, Type V

Human phenotypes related to Stickler Syndrome, Type V:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 sensorineural hearing impairment 31 HP:0000407
3 retinal detachment 31 HP:0000541
4 high myopia 31 HP:0011003
5 vitreoretinopathy 31 HP:0007773

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinal detachment
vitreoretinal degeneration
high myopia

Growth Height:
short stature in childhood
adult height, average

Head And Neck Ears:
hearing loss, sensorineural, mild to moderate

Clinical features from OMIM:

614284

Drugs & Therapeutics for Stickler Syndrome, Type V

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type V

Genetic Tests for Stickler Syndrome, Type V

Genetic tests related to Stickler Syndrome, Type V:

# Genetic test Affiliating Genes
1 Stickler Syndrome, Type 5 29

Anatomical Context for Stickler Syndrome, Type V

MalaCards organs/tissues related to Stickler Syndrome, Type V:

40
Bone

Publications for Stickler Syndrome, Type V

Articles related to Stickler Syndrome, Type V:

# Title Authors PMID Year
1
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 6 56
21671392 2011
2
Stickler Syndrome 6
20301479 2000

Variations for Stickler Syndrome, Type V

ClinVar genetic disease variations for Stickler Syndrome, Type V:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL9A2 NM_001852.4(COL9A2):c.843_846+4deldeletion Pathogenic 29645 rs606231376 1:40775606-40775613 1:40309934-40309941
2 COL9A2 NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)SNV Uncertain significance 283517 rs565855414 1:40770060-40770060 1:40304388-40304388
3 COL9A2 NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)SNV Uncertain significance 297297 rs373264436 1:40769480-40769480 1:40303808-40303808
4 COL9A2 NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)SNV Uncertain significance 297302 rs375476174 1:40770504-40770504 1:40304832-40304832
5 COL9A2 NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)SNV Uncertain significance 417900 rs201847956 1:40766865-40766865 1:40301193-40301193
6 COL9A2 NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)SNV Uncertain significance 547939 rs77937237 1:40777347-40777347 1:40311675-40311675
7 COL9A2 NM_001852.4(COL9A2):c.1242del (p.Gly415fs)deletion Uncertain significance 632106 rs756694568 1:40770036-40770037 1:40304371-40304371

Expression for Stickler Syndrome, Type V

Search GEO for disease gene expression data for Stickler Syndrome, Type V.

Pathways for Stickler Syndrome, Type V

GO Terms for Stickler Syndrome, Type V

Sources for Stickler Syndrome, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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