STL4
MCID: STC012
MIFTS: 22

Stickler Syndrome, Type Iv (STL4)

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

Aliases & Classifications for Stickler Syndrome, Type Iv

MalaCards integrated aliases for Stickler Syndrome, Type Iv:

Name: Stickler Syndrome, Type Iv 57 13 39 70
Stickler Syndrome, Type 4 29 6
Stl4 57 72
Stickler Syndrome 4 72

Characteristics:

HPO:

31
stickler syndrome, type iv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614134
OMIM Phenotypic Series 57 PS108300
MeSH 44 D003240
UMLS 70 C3279941

Summaries for Stickler Syndrome, Type Iv

UniProtKB/Swiss-Prot : 72 Stickler syndrome 4: 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. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

MalaCards based summary : Stickler Syndrome, Type Iv, is also known as stickler syndrome, type 4. An important gene associated with Stickler Syndrome, Type Iv is COL9A1 (Collagen Type IX Alpha 1 Chain). Affiliated tissues include tongue, and related phenotypes are sensorineural hearing impairment and genu valgum

More information from OMIM: 614134 PS108300

Related Diseases for Stickler Syndrome, Type Iv

Symptoms & Phenotypes for Stickler Syndrome, Type Iv

Human phenotypes related to Stickler Syndrome, Type Iv:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 genu valgum 31 very rare (1%) HP:0002857
3 flat face 31 very rare (1%) HP:0012368
4 astigmatism 31 very rare (1%) HP:0000483
5 flat capital femoral epiphysis 31 very rare (1%) HP:0003370
6 irregular capital femoral epiphysis 31 very rare (1%) HP:0005041
7 short stature 31 HP:0004322
8 epiphyseal dysplasia 31 HP:0002656
9 high myopia 31 HP:0011003
10 degenerative vitreoretinopathy 31 HP:0007964

Clinical features from OMIM®:

614134 (Updated 05-Apr-2021)

Drugs & Therapeutics for Stickler Syndrome, Type Iv

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

Genetic Tests for Stickler Syndrome, Type Iv

Genetic tests related to Stickler Syndrome, Type Iv:

# Genetic test Affiliating Genes
1 Stickler Syndrome, Type 4 29 COL9A1

Anatomical Context for Stickler Syndrome, Type Iv

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

40
Tongue

Publications for Stickler Syndrome, Type Iv

Articles related to Stickler Syndrome, Type Iv:

# Title Authors PMID Year
1
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. 6 57
21421862 2011
2
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 6 57
16909383 2006
3
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
4
A fully digital approach to replicate functional and aesthetic parameters in implant-supported full-arch rehabilitation. 61
29191608 2018
5
Adaptive immunity restricts replication of novel murine astroviruses. 61
22951832 2012
6
Carrier detection by DNA linkage analysis in eighty Thai hemophilia A families. 61
12403227 2002
7
Psychrotolerant sulfate-reducing bacteria from an oxic freshwater sediment, description of Desulfovibrio cuneatus sp. nov. and Desulfovibrio litoralis sp. nov. 61
9704109 1998

Variations for Stickler Syndrome, Type Iv

ClinVar genetic disease variations for Stickler Syndrome, Type Iv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL9A1 NM_001851.5(COL9A1):c.1519C>T (p.Arg507Ter) SNV Pathogenic 161449 rs189754995 GRCh37: 6:70965078-70965078
GRCh38: 6:70255375-70255375
2 COL9A1 NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) SNV Pathogenic 17195 rs121912931 GRCh37: 6:70990736-70990736
GRCh38: 6:70281033-70281033
3 COL9A1 NM_001851.5(COL9A1):c.876+2T>A SNV Pathogenic 374336 rs149830493 GRCh37: 6:70991091-70991091
GRCh38: 6:70281388-70281388
4 COL9A1 NM_001851.5(COL9A1):c.626G>A (p.Arg209Lys) SNV Uncertain significance 499848 rs571441243 GRCh37: 6:71003940-71003940
GRCh38: 6:70294237-70294237
5 COL9A1 NM_001851.5(COL9A1):c.1634G>A (p.Arg545His) SNV Uncertain significance 282983 rs145698301 GRCh37: 6:70964697-70964697
GRCh38: 6:70254994-70254994
6 COL9A1 NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter) SNV Uncertain significance 930660 GRCh37: 6:71004214-71004214
GRCh38: 6:70294511-70294511
7 COL9A1 NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala) SNV Uncertain significance 931840 GRCh37: 6:70944582-70944582
GRCh38: 6:70234879-70234879
8 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
9 COL9A1 NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 449774 rs143848379 GRCh37: 6:71004213-71004213
GRCh38: 6:70294510-70294510

Expression for Stickler Syndrome, Type Iv

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

Pathways for Stickler Syndrome, Type Iv

GO Terms for Stickler Syndrome, Type Iv

Sources for Stickler Syndrome, Type Iv

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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