MCID: ANX001
MIFTS: 28

Anauxetic Dysplasia malady

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

Aliases & Classifications for Anauxetic Dysplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anauxetic Dysplasia:

Name: Anauxetic Dysplasia 51 11 47 24 53 26 12 13 67
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 53
Spondylometaepiphyseal Dysplasia Anauxetic Type 47
 
Spondyloepimetaphyseal Dysplasia, Menger Type 53
Spondylometaepiphyseal Dysplasia Menger Type 47

Characteristics:

Orphanet epidemiological data:

53
anauxetic dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

63
anauxetic dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 607095
Disease Ontology11 DOID:0050640
Orphanet53 ORPHA93347
MESH via Orphanet39 C538256
UMLS via Orphanet68 C1846796
ICD10 via Orphanet30 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 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:51 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 disorders12.1
2cartilage-hair hypoplasia10.2
3dwarfism9.9
4metaphyseal dysplasia without hypotrichosis9.5LAMA2, RMRP
5caveolinopathies9.2LAMA2, RMRP
6otosclerosis 88.5CCNB2, 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

Human phenotypes related to Anauxetic Dysplasia:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hypertelorism63 HP:0000316
2 short neck63 HP:0000470
3 hypodontia63 HP:0000668
4 platyspondyly63 HP:0000926
5 hypoplastic ilia63 HP:0000946
6 brachydactyly syndrome63 HP:0001156
7 delayed ossification of carpal bones63 HP:0001216
8 intellectual disability63 HP:0001249
9 short toe63 HP:0001831
10 cervical cord compression63 HP:0002341
11 j-shaped sella turcica63 HP:0002680
12 flared metaphysis63 HP:0003015
13 cervical subluxation63 HP:0003308
14 rhizomelia63 HP:0008905
15 short finger63 HP:0009381
16 small epiphyses63 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 Dysplasia26 24 RMRP

Anatomical Context for Anauxetic Dysplasia

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MalaCards organs/tissues related to Anauxetic Dysplasia:

35
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, NT111insertionPathogenicChr na, -1: -1
2RMRPRMRP, 14G-ASNVPathogenicChr na, -1: -1
3RMRPNR_003051.3(RMRP): n.91_92delAGinsGCindelPathogenicrs387906533GRCh37Chr 9, 35657924: 35657925
4RMRPRMRP, 254C-GSNVPathogenicChr na, -1: -1
5RMRPRMRP, 10-BP DEL, NT254deletionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet