MCID: ANX001
MIFTS: 27

Anauxetic Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Anauxetic Dysplasia

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Sources:
47OMIM, 33MalaCards
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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:47 607095

Aliases & Classifications for Anauxetic Dysplasia

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
anauxetic dysplasia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

anauxetic dysplasia 8 9 43 20 22 47 49 62
spondyloepimetaphyseal dysplasia, anauxetic type 49
spondylometaepiphyseal dysplasia anauxetic type 43
spondyloepimetaphyseal dysplasia, menger type 49
spondylometaepiphyseal dysplasia menger type 43


External Ids:

Disease Ontology8 DOID:0050640
OMIM47 607095
MESH via Orphanet36 C538256
ICD10 via Orphanet26 Q77.7
UMLS via Orphanet63 C1846796

Related Diseases for Anauxetic Dysplasia

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Sources:
17GeneCards, 18GeneDecks
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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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

607095

Clinical features from OMIM:

607095

Drugs & Therapeutics for Anauxetic Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Anauxetic Dysplasia

Search NIH Clinical Center for Anauxetic Dysplasia

Genetic Tests for Anauxetic Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Anauxetic Dysplasia:

id Genetic test Affiliating Genes
1 Anauxetic Dysplasia20 22 RMRP

Anatomical Context for Anauxetic Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Anauxetic Dysplasia:

33
Bone

Animal Models for Anauxetic Dysplasia or affiliated genes

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Publications for Anauxetic Dysplasia

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Sources:
52PubMed
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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

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Anauxetic Dysplasia

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GO Terms for genes affiliated with Anauxetic Dysplasia

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Products for genes affiliated with Anauxetic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anauxetic Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet