MCID: SPN417
MIFTS: 18

Spondylocostal Dysostosis 6, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Metabolic 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 53 75 29 6
Scdo6 57 53 75
Spondylocostal Dysostosis 6 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spondylocostal dysostosis 6, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616566
MeSH 44 D004413
SNOMED-CT via HPO 69 258211005 298393001

Summaries for Spondylocostal Dysostosis 6, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 spinal cord and bone, and related phenotypes are cervical kyphosis and spinal canal stenosis

Description from OMIM: 616566

Related Diseases for Spondylocostal Dysostosis 6, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 6, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
descent of occipital bone
spinal canal stenosis

Neurologic Central Nervous System:
compression of spinal cord

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


Clinical features from OMIM:

616566

Human phenotypes related to Spondylocostal Dysostosis 6, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 cervical kyphosis 32 HP:0002947
2 spinal canal stenosis 32 HP:0003416

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:

41
Spinal Cord, Bone

Publications for Spondylocostal Dysostosis 6, Autosomal Recessive

Variations for Spondylocostal Dysostosis 6, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIPPLY2 NM_001009994.2(RIPPLY2): c.238A> T (p.Arg80Ter) single nucleotide variant Uncertain significance rs201419367 GRCh38 Chromosome 6, 83854160: 83854160
2 RIPPLY2 NM_001009994.2(RIPPLY2): c.238A> T (p.Arg80Ter) single nucleotide variant Uncertain significance rs201419367 GRCh37 Chromosome 6, 84563879: 84563879
3 RIPPLY2 NM_001009994.2(RIPPLY2): c.240-4T> G single nucleotide variant Pathogenic rs370933531 GRCh37 Chromosome 6, 84566957: 84566957
4 RIPPLY2 NM_001009994.2(RIPPLY2): c.240-4T> G single nucleotide variant Pathogenic rs370933531 GRCh38 Chromosome 6, 83857238: 83857238

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 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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