MCID: ANX001
MIFTS: 26

Anauxetic Dysplasia malady

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

Summaries for Anauxetic Dysplasia

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MalaCards based summary: Anauxetic Dysplasia, also known as spondyloepimetaphyseal dysplasia, anauxetic type, is related to cartilage-hair hypoplasia and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including autosomal recessive inheritance, hypertelorism and short neck. An important gene associated with Anauxetic Dysplasia is RMRP (RNA component of mitochondrial RNA processing endoribonuclease). Affiliated tissues include bone.

Description from OMIM:45 607095

Aliases & Classifications for Anauxetic Dysplasia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Anauxetic Dysplasia, Aliases & Descriptions:

Name: Anauxetic Dysplasia 45 9 10 41 20 47 22 60
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 41 47
Spondyloepimetaphyseal Dysplasia, Menger Type 41 47
 
Spondylometaepiphyseal Dysplasia Anauxetic Type 41
Spondylometaepiphyseal Dysplasia Menger Type 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
anauxetic dysplasia:
Inheritance: Autosomal recessive


External Ids:

OMIM45 607095
Disease Ontology9 DOID:0050640
Orphanet47 93347
MESH via Orphanet34 C538256
ICD10 via Orphanet26 Q77.7
UMLS via Orphanet61 C1846796

Related Diseases for Anauxetic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia31.0RMRP
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders10.6
3dwarfism10.2

Symptoms for Anauxetic Dysplasia

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Symptoms by clinical synopsis from OMIM:

607095

Clinical features from OMIM:

607095

HPO human phenotypes related to Anauxetic Dysplasia:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypertelorism HP:0000316
3 short neck HP:0000470
4 hypodontia HP:0000668
5 platyspondyly HP:0000926
6 hypoplastic ilia HP:0000946
7 delayed ossification of carpal bones HP:0001216
8 intellectual disability HP:0001249
9 short toe HP:0001831
10 cervical cord compression HP:0002341
11 j-shaped sella turcica HP:0002680
12 flared metaphyses HP:0003015
13 cervical subluxation HP:0003308
14 rhizomelia HP:0008905
15 short finger HP:0009381
16 small epiphyses HP:0010585

Drugs & Therapeutics for Anauxetic Dysplasia

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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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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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MalaCards organs/tissues related to Anauxetic Dysplasia:

31
Bone

Animal Models for Anauxetic Dysplasia or affiliated genes

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Publications for Anauxetic Dysplasia

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Articles related to Anauxetic Dysplasia:

idTitleAuthorsYear
1
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
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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Clinvar genetic disease variations for Anauxetic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RMRPRMRP, 14-BP INS, NT111insertionPathogenic
2RMRPRMRP, 14G-Asingle nucleotide variantPathogenic
3RMRPRMRP: n.91_92delAGinsGCindelPathogenicrs387906533GRCh37Chr 9, 35657924: 35657925
4RMRPRMRP, 254C-Gsingle nucleotide variantPathogenic
5RMRPRMRP, 10-BP DEL, NT254deletionPathogenic

Expression for genes affiliated with Anauxetic Dysplasia

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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
  • Proteins
  • Kits and Assays

Sources for Anauxetic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet