MCID: SCR035
MIFTS: 19

Sacral Agenesis with Vertebral Anomalies

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sacral Agenesis with Vertebral Anomalies

MalaCards integrated aliases for Sacral Agenesis with Vertebral Anomalies:

Name: Sacral Agenesis with Vertebral Anomalies 54 71 29 69
Spinal Diseases 42 69
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 56
Sava 71

Characteristics:

Orphanet epidemiological data:

56
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

54
Miscellaneous:
early death may occur
onset in utero

Inheritance:
autosomal recessive


HPO:

32
sacral agenesis with vertebral anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 615709
Orphanet 56 ORPHA397927
ICD10 via Orphanet 34 Q87.5
MeSH 42 D013122
ICD10 33 G12.9 M42.9

Summaries for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot : 71 Sacral agenesis with vertebral anomalies: A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.

MalaCards based summary : Sacral Agenesis with Vertebral Anomalies, also known as spinal diseases, is related to spinal disease and substance abuse, and has symptoms including abnormality of the vertebrae, back pain and sciatica. An important gene associated with Sacral Agenesis with Vertebral Anomalies is T (T Brachyury Transcription Factor).

Description from OMIM: 615709

Related Diseases for Sacral Agenesis with Vertebral Anomalies

Diseases related to Sacral Agenesis with Vertebral Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spinal disease 12.0
2 substance abuse 9.9
3 back pain 9.3
4 psoriatic arthritis 9.3
5 arthritis 9.3
6 coccidioidomycosis 9.3
7 cervicitis 9.3
8 plexopathy 9.3
9 spondylitis 9.3

Graphical network of the top 20 diseases related to Sacral Agenesis with Vertebral Anomalies:



Diseases related to Sacral Agenesis with Vertebral Anomalies

Symptoms & Phenotypes for Sacral Agenesis with Vertebral Anomalies

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
defective ossification of the vertebral bodies
persistent notochordal canal
vertical clefting of the vertebral bodies
sacral agenesis


Clinical features from OMIM:

615709

Human phenotypes related to Sacral Agenesis with Vertebral Anomalies:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of the vertebrae 32 HP:0003468

UMLS symptoms related to Sacral Agenesis with Vertebral Anomalies:


back pain, sciatica, acute back pain

Drugs & Therapeutics for Sacral Agenesis with Vertebral Anomalies

Search Clinical Trials , NIH Clinical Center for Sacral Agenesis with Vertebral Anomalies

Cochrane evidence based reviews: spinal diseases

Genetic Tests for Sacral Agenesis with Vertebral Anomalies

Genetic tests related to Sacral Agenesis with Vertebral Anomalies:

id Genetic test Affiliating Genes
1 Sacral Agenesis with Vertebral Anomalies 29

Anatomical Context for Sacral Agenesis with Vertebral Anomalies

Publications for Sacral Agenesis with Vertebral Anomalies

Variations for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

71
id Symbol AA change Variation ID SNP ID
1 T p.His171Arg VAR_071251 rs587777303

ClinVar genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 T NM_003181.3(T): c.512A> G (p.His171Arg) single nucleotide variant Pathogenic rs587777303 GRCh37 Chromosome 6, 166579288: 166579288

Expression for Sacral Agenesis with Vertebral Anomalies

Search GEO for disease gene expression data for Sacral Agenesis with Vertebral Anomalies.

Pathways for Sacral Agenesis with Vertebral Anomalies

GO Terms for Sacral Agenesis with Vertebral Anomalies

Sources for Sacral Agenesis with Vertebral Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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