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 57 13 40 72
Stickler Syndrome, Type 5 29 6
Stl5 57 74
Stickler Syndrome 5 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
stickler syndrome, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D003240
UMLS 72 C3280342

Summaries for Stickler Syndrome, Type V

UniProtKB/Swiss-Prot : 74 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 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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 short stature 32 HP:0004322
3 retinal detachment 32 HP:0000541
4 high myopia 32 HP:0011003
5 vitreoretinopathy 32 HP:0007773

Symptoms via clinical synopsis from OMIM:

57
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 COL9A2

Anatomical Context for Stickler Syndrome, Type V

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

41
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. 8 71
21671392 2011
2
Stickler Syndrome 71
20301479 2000

Variations for Stickler Syndrome, Type V

ClinVar genetic disease variations for Stickler Syndrome, Type V:

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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