MCID: STL007
MIFTS: 27

Steel Syndrome

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Steel Syndrome

MalaCards integrated aliases for Steel Syndrome:

Name: Steel Syndrome 57 59 75 29 6 73
Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, and Short Stature 57 75
Stls 57 75
Bilateral Hip and Radial Head Dislocations-Short Stature-Scoliosis-Carpal Coalitions-Pes Cavus-Facial Dysmorphism Syndrome 59
Hip Dislocation 44

Characteristics:

Orphanet epidemiological data:

59
steel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mutation found in 1 puerto rican family (last curated august 2014)


HPO:

32
steel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615155
Orphanet 59 ORPHA438117
ICD10 via Orphanet 34 Q87.5
ICD10 33 S73.0
UMLS 73 C3554594

Summaries for Steel Syndrome

OMIM : 57 Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010). (615155)

MalaCards based summary : Steel Syndrome, also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature, is related to dwarfism, proportionate, with hip dislocation and larsen syndrome. An important gene associated with Steel Syndrome is COL27A1 (Collagen Type XXVII Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are hypertelorism and wide nasal bridge

UniProtKB/Swiss-Prot : 75 Steel syndrome: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge.

Related Diseases for Steel Syndrome

Graphical network of the top 20 diseases related to Steel Syndrome:



Diseases related to Steel Syndrome

Symptoms & Phenotypes for Steel Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
cervical spine anomalies

Skeletal Limbs:
dislocated radial heads

Skeletal Feet:
bilateral talipes cavus

Head And Neck Face:
prominent forehead
long, oval-shaped face

Head And Neck Nose:
broad nasal bridge

Skeletal Pelvis:
congenital hip dislocations, resistant to surgical treatment

Skeletal Hands:
carpal coalition (fusion of carpal bones)


Clinical features from OMIM:

615155

Human phenotypes related to Steel Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 wide nasal bridge 32 HP:0000431
3 scoliosis 32 HP:0002650
4 dislocated radial head 32 HP:0003083
5 short stature 32 HP:0004322
6 prominent forehead 32 HP:0011220

Drugs & Therapeutics for Steel Syndrome

Search Clinical Trials , NIH Clinical Center for Steel Syndrome

Cochrane evidence based reviews: hip dislocation

Genetic Tests for Steel Syndrome

Genetic tests related to Steel Syndrome:

# Genetic test Affiliating Genes
1 Steel Syndrome 29 COL27A1

Anatomical Context for Steel Syndrome

MalaCards organs/tissues related to Steel Syndrome:

41
Bone

Publications for Steel Syndrome

Articles related to Steel Syndrome:

# Title Authors Year
1
Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. ( 28276056 )
2017
2
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. ( 28322503 )
2017
3
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. ( 24986830 )
2014
4
Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. ( 20357596 )
2010

Variations for Steel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Steel Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 COL27A1 p.Gly697Arg VAR_072564 rs140950220

ClinVar genetic disease variations for Steel Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL27A1 NM_032888.3(COL27A1): c.2089G> C (p.Gly697Arg) single nucleotide variant Pathogenic rs140950220 GRCh37 Chromosome 9, 116958257: 116958257
2 COL27A1 NM_032888.3(COL27A1): c.2089G> C (p.Gly697Arg) single nucleotide variant Pathogenic rs140950220 GRCh38 Chromosome 9, 114195977: 114195977
3 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic

Expression for Steel Syndrome

Search GEO for disease gene expression data for Steel Syndrome.

Pathways for Steel Syndrome

GO Terms for Steel Syndrome

Sources for Steel Syndrome

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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