STL5
MCID: STC011
MIFTS: 19

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 58 13 41 74
Stickler Syndrome, Type 5 30 6
Stl5 58 76
Stickler Syndrome 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
stickler syndrome, type v:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Stickler Syndrome, Type V

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 614284

Related Diseases for Stickler Syndrome, Type V

Symptoms & Phenotypes for Stickler Syndrome, Type V

Human phenotypes related to Stickler Syndrome, Type V:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 short stature 33 HP:0004322
3 retinal detachment 33 HP:0000541
4 vitreoretinopathy 33 HP:0007773
5 high myopia 33 HP:0011003

Symptoms via clinical synopsis from OMIM:

58
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 30 COL9A2

Anatomical Context for Stickler Syndrome, Type V

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

42
Bone

Publications for Stickler Syndrome, Type V

Variations for Stickler Syndrome, Type V

ClinVar genetic disease variations for Stickler Syndrome, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A2 NM_001852.3(COL9A2): c.843_846+4del8 (p.Asp281GlnfsTer70) deletion Pathogenic rs606231376 GRCh38 Chromosome 1, 40309934: 40309941
2 COL9A2 NM_001852.3(COL9A2): c.843_846+4del8 (p.Asp281GlnfsTer70) deletion Pathogenic rs606231376 GRCh37 Chromosome 1, 40775606: 40775613
3 COL9A2 NM_001852.3(COL9A2): c.1123C> G (p.Arg375Gly) single nucleotide variant Uncertain significance rs375476174 GRCh38 Chromosome 1, 40304832: 40304832
4 COL9A2 NM_001852.3(COL9A2): c.1123C> G (p.Arg375Gly) single nucleotide variant Uncertain significance rs375476174 GRCh37 Chromosome 1, 40770504: 40770504
5 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh38 Chromosome 1, 40301193: 40301193
6 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh37 Chromosome 1, 40766865: 40766865
7 COL9A2 NM_001852.3(COL9A2): c.458C> T (p.Pro153Leu) single nucleotide variant Uncertain significance rs77937237 GRCh38 Chromosome 1, 40311675: 40311675
8 COL9A2 NM_001852.3(COL9A2): c.458C> T (p.Pro153Leu) single nucleotide variant Uncertain significance rs77937237 GRCh37 Chromosome 1, 40777347: 40777347

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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