STL5
MCID: STC011
MIFTS: 20

Stickler Syndrome, Type V (STL5)

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

Aliases & Classifications for Stickler Syndrome, Type V

MalaCards integrated aliases for Stickler Syndrome, Type V:

Name: Stickler Syndrome, Type V 57 13 39 70
Stickler Syndrome, Type 5 29 6
Stl5 57 72
Stickler Syndrome 5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
stickler syndrome, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614284
OMIM Phenotypic Series 57 PS108300
MeSH 44 D003240
UMLS 70 C3280342

Summaries for Stickler Syndrome, Type V

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are sensorineural hearing impairment and short stature

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 sensorineural hearing impairment 31 HP:0000407
2 short stature 31 HP:0004322
3 retinal detachment 31 HP:0000541
4 high myopia 31 HP:0011003
5 vitreoretinopathy 31 HP:0007773

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 COL9A2

Anatomical Context for Stickler Syndrome, Type V

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

40
Eye

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 57
21671392 2011

Variations for Stickler Syndrome, Type V

ClinVar genetic disease variations for Stickler Syndrome, Type V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL9A2 NM_001852.4(COL9A2):c.843_846+4del Deletion Pathogenic 29645 rs606231376 GRCh37: 1:40775606-40775613
GRCh38: 1:40309934-40309941
2 COL9A2 NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) SNV Uncertain significance 417900 rs201847956 GRCh37: 1:40766865-40766865
GRCh38: 1:40301193-40301193
3 COL9A2 NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) SNV Uncertain significance 547939 rs77937237 GRCh37: 1:40777347-40777347
GRCh38: 1:40311675-40311675
4 COL9A2 NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) SNV Uncertain significance 297297 rs373264436 GRCh37: 1:40769480-40769480
GRCh38: 1:40303808-40303808
5 COL9A2 NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) SNV Uncertain significance 283517 rs565855414 GRCh37: 1:40770060-40770060
GRCh38: 1:40304388-40304388
6 COL9A2 NM_001852.4(COL9A2):c.1242del (p.Gly415fs) Deletion Uncertain significance 632106 rs756694568 GRCh37: 1:40770037-40770037
GRCh38: 1:40304365-40304365
7 COL9A2 NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) SNV Likely benign 689606 rs201985170 GRCh37: 1:40770042-40770042
GRCh38: 1:40304370-40304370
8 COL9A2 NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) SNV not provided 297302 rs375476174 GRCh37: 1:40770504-40770504
GRCh38: 1:40304832-40304832

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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