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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anauxetic Dysplasia:

Name: Anauxetic Dysplasia 52 48 24 54 27 12 68
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 54
Spondylometaepiphyseal Dysplasia Anauxetic Type 48
 
Spondyloepimetaphyseal Dysplasia, Menger Type 54
Spondylometaepiphyseal Dysplasia Menger Type 48

Characteristics:

Orphanet epidemiological data:

54
anauxetic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

64
anauxetic dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 607095
Orphanet54 ORPHA93347
MESH via Orphanet40 C538256
UMLS via Orphanet69 C1846796
ICD10 via Orphanet31 Q77.7

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 anauxetic dysplasia 1, 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 are Ribosome biogenesis in eukaryotes and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include bone.

Description from OMIM:52 607095

Related Diseases for Anauxetic Dysplasia

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Diseases in the Anauxetic Dysplasia family:

Anauxetic Dysplasia 1

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 disorders12.1
2anauxetic dysplasia 112.0
3cartilage-hair hypoplasia10.2
4atelosteogenesis9.9CCNB2, RMRP
5dwarfism9.9
6charcot-marie-tooth neuropathy x type 59.8LAMA2, RMRP
7ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9.4CCNB2, LAMA2, POP1, RMRP

Graphical network of diseases related to Anauxetic Dysplasia:



Diseases related to anauxetic dysplasia

Symptoms & Phenotypes for Anauxetic Dysplasia

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Symptoms by clinical synopsis from OMIM:

607095

Clinical features from OMIM:

607095

Human phenotypes related to Anauxetic Dysplasia:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hypertelorism64 HP:0000316
2 short neck64 HP:0000470
3 hypodontia64 HP:0000668
4 platyspondyly64 HP:0000926
5 hypoplastic ilia64 HP:0000946
6 brachydactyly syndrome64 HP:0001156
7 delayed ossification of carpal bones64 HP:0001216
8 intellectual disability64 HP:0001249
9 short toe64 HP:0001831
10 cervical cord compression64 HP:0002341
11 j-shaped sella turcica64 HP:0002680
12 flared metaphysis64 HP:0003015
13 cervical subluxation64 HP:0003308
14 rhizomelia64 HP:0008905
15 short finger64 HP:0009381
16 small epiphyses64 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 Dysplasia27 24 RMRP

Anatomical Context for Anauxetic Dysplasia

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MalaCards organs/tissues related to Anauxetic Dysplasia:

36
Bone

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-ASNVPathogenic
3RMRPNR_ 003051.3(RMRP): n.91_ 92delAGinsGCindelPathogenicrs387906533GRCh37Chr 9, 35657924: 35657925
4RMRPRMRP, 254C-GSNVPathogenic
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
2
Show member pathways
9.1CCNB2, LAMA2

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet