MCID: ANX001
MIFTS: 29

Anauxetic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Anauxetic Dysplasia

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Anauxetic Dysplasia:

Name: Anauxetic Dysplasia 50 11 46 23 13 52 25 12 66
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 52
Spondylometaepiphyseal Dysplasia Anauxetic Type 46
 
Spondyloepimetaphyseal Dysplasia, Menger Type 52
Spondylometaepiphyseal Dysplasia Menger Type 46

Characteristics:

Orphanet epidemiological data:

52
anauxetic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

62
anauxetic dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 607095
Disease Ontology11 DOID:0050640
Orphanet52 ORPHA93347
ICD10 via Orphanet29 Q77.7
MESH via Orphanet38 C538256
UMLS via Orphanet67 C1846796

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 - anauxetic dysplasia spectrum disorders and cartilage-hair hypoplasia, and has symptoms including hypertelorism, short neck and hypodontia. An important gene associated with Anauxetic Dysplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include bone.

Description from OMIM:50 607095

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 hypoplasia - anauxetic dysplasia spectrum disorders12.3
2cartilage-hair hypoplasia10.3
3dwarfism10.0
4metaphyseal dysplasia without hypotrichosis9.5LAMA2, RMRP
5caveolinopathies9.2LAMA2, RMRP
6otosclerosis 88.3CCNB2, LAMA2, POP1, RMRP

Graphical network of diseases related to Anauxetic Dysplasia:



Diseases related to anauxetic dysplasia

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 hypertelorism HP:0000316
2 short neck HP:0000470
3 hypodontia HP:0000668
4 platyspondyly HP:0000926
5 hypoplastic ilia HP:0000946
6 brachydactyly syndrome HP:0001156
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 metaphysis 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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Interventional clinical trials:

Search ClinicalTrials, 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 Dysplasia25 23 RMRP

Anatomical Context for Anauxetic Dysplasia

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MalaCards organs/tissues related to Anauxetic Dysplasia:

34
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
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. (27380734)
2016
2
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
3
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. (22528854)
2012
4
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
5
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
6
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (11370632)
2001
7
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders (22420014)
1993

Variations for Anauxetic Dysplasia

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Clinvar genetic disease variations for Anauxetic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RMRPRMRP, 14-BP INS, NT111insertionPathogenic
2RMRPRMRP, 14G-Asingle nucleotide variantPathogenic
3RMRPNR_003051.3(RMRP): 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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Pathways related to Anauxetic Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3POP1, RMRP

GO Terms for genes affiliated with Anauxetic Dysplasia

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Sources for Anauxetic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet