MCID: SPN215
MIFTS: 21

Spondylocostal Dysostosis 4, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Metabolic 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 75 29 13 6 73
Scdo4 57 75
Dysostosis, Spondylocostal, Autosomal Recessive, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondylocostal dysostosis 4, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylocostal Dysostosis 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 4. An important gene associated with Spondylocostal Dysostosis 4, Autosomal Recessive is HES7 (Hes Family BHLH Transcription Factor 7). Affiliated tissues include testes, and related phenotypes are rib fusion and missing ribs

Description from OMIM: 613686

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
Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 4

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

# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 4 11.4

Symptoms & Phenotypes for Spondylocostal Dysostosis 4, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Central Nervous System:
spina bifida occulta
myelomeningocele

Cardiovascular Heart:
dextrocardia

Chest:
situs inversus

Cardiovascular Vascular:
vertebral artery hypoplasia, unilateral

Chest External Features:
short thorax

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

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

Human phenotypes related to Spondylocostal Dysostosis 4, Autosomal Recessive:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 rib fusion 32 HP:0000902
2 missing ribs 32 HP:0000921
3 situs inversus totalis 32 HP:0001696
4 restrictive deficit on pulmonary function testing 32 HP:0002111
5 myelomeningocele 32 HP:0002475
6 hemivertebrae 32 HP:0002937
7 spina bifida occulta 32 HP:0003298
8 block vertebrae 32 HP:0003305
9 abnormality of the odontoid process 32 HP:0003310
10 short stature 32 HP:0004322
11 short thorax 32 HP:0010306
12 unilateral vertebral artery hypoplasia 32 HP:0030323

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

MalaCards organs/tissues related to Spondylocostal Dysostosis 4, Autosomal Recessive:

41
Testes

Publications for Spondylocostal Dysostosis 4, Autosomal Recessive

Variations for Spondylocostal Dysostosis 4, Autosomal Recessive

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HES7 NM_032580.3(HES7): c.73C> T (p.Arg25Trp) single nucleotide variant Pathogenic rs113994160 GRCh37 Chromosome 17, 8026414: 8026414
2 HES7 NM_032580.3(HES7): c.73C> T (p.Arg25Trp) single nucleotide variant Pathogenic rs113994160 GRCh38 Chromosome 17, 8123096: 8123096

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 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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