SCDO6
MCID: SPN417
MIFTS: 21

Spondylocostal Dysostosis 6, Autosomal Recessive (SCDO6)

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

Aliases & Classifications for Spondylocostal Dysostosis 6, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 6, Autosomal Recessive:

Name: Spondylocostal Dysostosis 6, Autosomal Recessive 57 20 72 29 6
Scdo6 57 20 72
Spondylocostal Dysostosis 6 57 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 affected brothers in 1 family (last curated october 2015)


HPO:

31
spondylocostal dysostosis 6, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616566
OMIM Phenotypic Series 57 PS277300
MeSH 44 D004413

Summaries for Spondylocostal Dysostosis 6, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spondylocostal dysostosis 6, autosomal recessive: A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

MalaCards based summary : Spondylocostal Dysostosis 6, Autosomal Recessive, is also known as scdo6. An important gene associated with Spondylocostal Dysostosis 6, Autosomal Recessive is RIPPLY2 (Ripply Transcriptional Repressor 2). Affiliated tissues include bone and spinal cord, and related phenotypes are scoliosis and hemivertebrae

More information from OMIM: 616566 PS277300

Related Diseases for Spondylocostal Dysostosis 6, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 6, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis 6, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 hemivertebrae 31 HP:0002937
3 spinal canal stenosis 31 HP:0003416
4 butterfly vertebrae 31 HP:0003316
5 cervical kyphosis 31 HP:0002947

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Skull:
spinal canal stenosis
descent of occipital bone

Neurologic Central Nervous System:
compression of spinal cord

Skeletal Spine:
cervical kyphosis
absence of posterior elements of upper cervical vertebrae
hemivertebrae in cervical and thoracic spine
butterfly vertebrae in thoracic spine
mild thoracic scoliosis

Clinical features from OMIM®:

616566 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylocostal Dysostosis 6, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 6, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 6, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis 6, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 6, Autosomal Recessive 29 RIPPLY2

Anatomical Context for Spondylocostal Dysostosis 6, Autosomal Recessive

MalaCards organs/tissues related to Spondylocostal Dysostosis 6, Autosomal Recessive:

40
Bone, Spinal Cord

Publications for Spondylocostal Dysostosis 6, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 6, Autosomal Recessive:

# Title Authors PMID Year
1
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 6 57
25343988 2015
2
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6. 61
33410135 2021
3
A Cryptic Cause of Cardiac Arrest. 61
30420309 2019

Variations for Spondylocostal Dysostosis 6, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis 6, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIPPLY2 NM_001009994.2(RIPPLY2):c.240-4T>G SNV Pathogenic 221272 rs370933531 GRCh37: 6:84566957-84566957
GRCh38: 6:83857238-83857238
2 RIPPLY2 NM_001009994.2(RIPPLY2):c.238A>T (p.Arg80Ter) SNV Pathogenic 221271 rs201419367 GRCh37: 6:84563879-84563879
GRCh38: 6:83854160-83854160
3 RIPPLY2 NM_001009994.2(RIPPLY2):c.2T>C (p.Met1Thr) SNV Pathogenic 1034360 GRCh37: 6:84563137-84563137
GRCh38: 6:83853418-83853418

Expression for Spondylocostal Dysostosis 6, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 6, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 6, Autosomal Recessive

GO Terms for Spondylocostal Dysostosis 6, Autosomal Recessive

Sources for Spondylocostal Dysostosis 6, 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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