STL4
MCID: STC012
MIFTS: 21

Stickler Syndrome, Type Iv (STL4)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic 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 40 73
Stickler Syndrome, Type 4 29 6
Stl4 57 75
Stickler Syndrome 4 75

Characteristics:

HPO:

32
stickler syndrome, type iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Stickler Syndrome, Type Iv

UniProtKB/Swiss-Prot : 75 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 bone, tongue and eye, and related phenotypes are genu valgum and sensorineural hearing impairment

Description from OMIM: 614134

Related Diseases for Stickler Syndrome, Type Iv

Symptoms & Phenotypes for Stickler Syndrome, Type Iv

Clinical features from OMIM:

614134

Human phenotypes related to Stickler Syndrome, Type Iv:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 very rare (1%) HP:0002857
2 sensorineural hearing impairment 32 HP:0000407
3 short stature 32 HP:0004322
4 epiphyseal dysplasia 32 HP:0002656
5 flat face 32 very rare (1%) HP:0012368
6 astigmatism 32 very rare (1%) HP:0000483
7 flat capital femoral epiphysis 32 very rare (1%) HP:0003370
8 high myopia 32 HP:0011003
9 degenerative vitreoretinopathy 32 HP:0007964
10 irregular capital femoral epiphysis 32 very rare (1%) HP:0005041

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:

41
Bone, Tongue, Eye

Publications for Stickler Syndrome, Type Iv

Variations for Stickler Syndrome, Type Iv

ClinVar genetic disease variations for Stickler Syndrome, Type Iv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A1 NM_001851.4(COL9A1): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs121912931 GRCh37 Chromosome 6, 70990736: 70990736
2 COL9A1 NM_001851.4(COL9A1): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs121912931 GRCh38 Chromosome 6, 70281033: 70281033
3 COL9A1 NM_001851.4(COL9A1): c.1519C> T (p.Arg507Ter) single nucleotide variant Pathogenic rs189754995 GRCh38 Chromosome 6, 70255375: 70255375
4 COL9A1 NM_001851.4(COL9A1): c.1519C> T (p.Arg507Ter) single nucleotide variant Pathogenic rs189754995 GRCh37 Chromosome 6, 70965078: 70965078
5 COL9A1 NM_001851.4(COL9A1): c.953_961delAGCCTGGCA (p.Lys318_Gly320del) deletion Uncertain significance rs755136585 GRCh38 Chromosome 6, 70280826: 70280834
6 COL9A1 NM_001851.4(COL9A1): c.953_961delAGCCTGGCA (p.Lys318_Gly320del) deletion Uncertain significance rs755136585 GRCh37 Chromosome 6, 70990529: 70990537
7 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
8 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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