SCDO4
MCID: SPN215
MIFTS: 22

Spondylocostal Dysostosis 4, Autosomal Recessive (SCDO4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spondylocostal Dysostosis 4, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 4, Autosomal Recessive:

Name: Spondylocostal Dysostosis 4, Autosomal Recessive 57 20 72 29 13 6 70
Scdo4 57 20 72
Dysostosis, Spondylocostal, Autosomal Recessive, Type 4 39
Spondylocostal Dysostosis 4 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spondylocostal dysostosis 4, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613686
OMIM Phenotypic Series 57 PS277300
MeSH 44 D004413
MedGen 41 C3150942
UMLS 70 C3150942

Summaries for Spondylocostal Dysostosis 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spondylocostal dysostosis 4, autosomal recessive: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.

MalaCards based summary : Spondylocostal Dysostosis 4, Autosomal Recessive, also known as scdo4, is related to spondylocostal dysostosis 5. An important gene associated with Spondylocostal Dysostosis 4, Autosomal Recessive is HES7 (Hes Family BHLH Transcription Factor 7). Related phenotypes are short stature and short thorax

More information from OMIM: 613686 PS277300

Related Diseases for Spondylocostal Dysostosis 4, Autosomal Recessive

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 6, Autosomal Recessive

Diseases related to Spondylocostal Dysostosis 4, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 11.3

Symptoms & Phenotypes for Spondylocostal Dysostosis 4, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis 4, Autosomal Recessive:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 short thorax 31 HP:0010306
3 hemivertebrae 31 HP:0002937
4 spina bifida occulta 31 HP:0003298
5 rib fusion 31 HP:0000902
6 missing ribs 31 HP:0000921
7 block vertebrae 31 HP:0003305
8 situs inversus totalis 31 HP:0001696
9 myelomeningocele 31 HP:0002475
10 restrictive ventilatory defect 31 HP:0002091
11 abnormality of the odontoid process 31 HP:0003310
12 unilateral vertebral artery hypoplasia 31 HP:0030323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Skeletal Spine:
hemivertebrae
vertebral fusion
block vertebrae
abnormal odontoid process
vertebral segmentation defects

Cardiovascular Heart:
dextrocardia

Chest:
situs inversus

Cardiovascular Vascular:
vertebral artery hypoplasia, unilateral

Chest External Features:
short thorax

Neurologic Central Nervous System:
spina bifida occulta
myelomeningocele

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies
rib number reduced
rib fusion at multiple points

Abdomen:
situs inversus

Respiratory Lung:
restrictive ventilatory defect, moderate

Clinical features from OMIM®:

613686 (Updated 20-May-2021)

Drugs & Therapeutics for Spondylocostal Dysostosis 4, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 4, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 4, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis 4, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 4, Autosomal Recessive 29 HES7

Anatomical Context for Spondylocostal Dysostosis 4, Autosomal Recessive

Publications for Spondylocostal Dysostosis 4, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 4, Autosomal Recessive:

(showing 3, show less)
# Title Authors PMID Year
1
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 61 57
20087400 2010
2
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 57
23897666 2013
3
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 57
18775957 2008

Variations for Spondylocostal Dysostosis 4, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis 4, Autosomal Recessive:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HES7 NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) SNV Pathogenic 30696 rs113994160 GRCh37: 17:8026414-8026414
GRCh38: 17:8123096-8123096
2 HES7 NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) SNV Likely pathogenic 559880 rs1332109041 GRCh37: 17:8026401-8026401
GRCh38: 17:8123083-8123083

UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 4, Autosomal Recessive:

72 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 HES7 p.Arg25Trp VAR_064921 rs113994160
2 HES7 p.Ile58Val VAR_064922 rs387906979
3 HES7 p.Asp186Tyr VAR_064923 rs387906978

Expression for Spondylocostal Dysostosis 4, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 4, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 4, Autosomal Recessive

GO Terms for Spondylocostal Dysostosis 4, Autosomal Recessive

Sources for Spondylocostal Dysostosis 4, Autosomal Recessive

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