MCID: ANX001
MIFTS: 27

Anauxetic Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Anauxetic Dysplasia

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Anauxetic Dysplasia, also known as spondyloepimetaphyseal dysplasia, anauxetic type, is related to cartilage-hair hypoplasia and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders. An important gene associated with Anauxetic Dysplasia is RMRP (RNA component of mitochondrial RNA processing endoribonuclease). Affiliated tissues include bone.

Description from OMIM:48 607095

Aliases & Classifications for Anauxetic Dysplasia

About this section
Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
anauxetic dysplasia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

anauxetic dysplasia 9 10 44 21 23 48 50 63
spondyloepimetaphyseal dysplasia, anauxetic type 50
spondylometaepiphyseal dysplasia anauxetic type 44
spondyloepimetaphyseal dysplasia, menger type 50
spondylometaepiphyseal dysplasia menger type 44


External Ids:

Disease Ontology9 DOID:0050640
OMIM48 607095
MESH via Orphanet37 C538256
ICD10 via Orphanet27 Q77.7
UMLS via Orphanet64 C1846796

Related Diseases for Anauxetic Dysplasia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Anauxetic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia30.7RMRP
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders10.5
3dwarfism10.2

Symptoms for Anauxetic Dysplasia

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

607095

Clinical features from OMIM:

607095

Drugs & Therapeutics for Anauxetic Dysplasia

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Anauxetic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Anauxetic Dysplasia

Search NIH Clinical Center for Anauxetic Dysplasia

Search CenterWatch for Anauxetic Dysplasia

Genetic Tests for Anauxetic Dysplasia

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Anauxetic Dysplasia:

id Genetic test Affiliating Genes
1 Anauxetic Dysplasia21 23 RMRP

Anatomical Context for Anauxetic Dysplasia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Anauxetic Dysplasia:

34
Bone

Animal Models for Anauxetic Dysplasia or affiliated genes

About this section

Publications for Anauxetic Dysplasia

About this section
Sources:
53PubMed
See all sources

Articles related to Anauxetic Dysplasia:

idTitleAuthorsYear
1
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. (22528854)
2012
2
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
3
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
4
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (11370632)
2001
5
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders (22420014)
1993

Variations for Anauxetic Dysplasia

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Anauxetic Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1RMRPRMRP: n.91_92delAGinsGCindelPathogenicrs387906533GRCh37Chr 9, 35657924: 35657925

Expression for genes affiliated with Anauxetic Dysplasia

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Anauxetic Dysplasia

Search GEO for disease gene expression data for Anauxetic Dysplasia.

Pathways for genes affiliated with Anauxetic Dysplasia

About this section

Compounds for genes affiliated with Anauxetic Dysplasia

About this section

GO Terms for genes affiliated with Anauxetic Dysplasia

About this section

Products for genes affiliated with Anauxetic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anauxetic Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet