MCID: ANX001
MIFTS: 28

Anauxetic Dysplasia malady

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

Aliases & Classifications for Anauxetic Dysplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Anauxetic Dysplasia:

Name: Anauxetic Dysplasia 49 10 11 45 22 12 51 24 65
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 51
Spondylometaepiphyseal Dysplasia Anauxetic Type 45
 
Spondyloepimetaphyseal Dysplasia, Menger Type 51
Spondylometaepiphyseal Dysplasia Menger Type 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
anauxetic dysplasia:
Inheritance: Autosomal recessive


External Ids:

OMIM49 607095
Disease Ontology10 DOID:0050640
Orphanet51 93347
UMLS via Orphanet66 C1846796
ICD10 via Orphanet28 Q77.7
MESH via Orphanet37 C538256

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), and among its related pathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include bone.

Description from OMIM:49 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 hypoplasia30.4LAMA2, RMRP
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders10.6
3dwarfism10.2
4catecholaminergic polymorphic ventricular tachycardia9.6LAMA2, RMRP
5anauxetic dysplasia9.3CCNB2, 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 17)
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 brachydactyly syndrome HP:0001156
8 delayed ossification of carpal bones HP:0001216
9 intellectual disability HP:0001249
10 short toe HP:0001831
11 cervical cord compression HP:0002341
12 j-shaped sella turcica HP:0002680
13 flared metaphysis HP:0003015
14 cervical subluxation HP:0003308
15 rhizomelia HP:0008905
16 short finger HP:0009381
17 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 Dysplasia22 24 RMRP

Anatomical Context for Anauxetic Dysplasia

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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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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
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. (22528854)
2012
3
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
4
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
5
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (11370632)
2001
6
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
3RMRPNM_174923.2(CCDC107): c.-453_-452delCTinsGCindelPathogenicrs387906533GRCh37Chr 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 pathways (with members indented)ScoreTop 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet