MCID: ANX001
MIFTS: 29

Anauxetic Dysplasia malady

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

Aliases & Classifications for Anauxetic Dysplasia

Aliases & Descriptions for Anauxetic Dysplasia:

Name: Anauxetic Dysplasia 54 50 24 56 29 13 69
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 56
Spondylometaepiphyseal Dysplasia Anauxetic Type 50
Spondyloepimetaphyseal Dysplasia, Menger Type 56
Spondylometaepiphyseal Dysplasia Menger Type 50

Characteristics:

Orphanet epidemiological data:

56
anauxetic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
anauxetic dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607095
Orphanet 56 ORPHA93347
MESH via Orphanet 43 C538256
UMLS via Orphanet 70 C1846796
ICD10 via Orphanet 34 Q77.7

Summaries for Anauxetic Dysplasia

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 intellectual disability. An important gene associated with Anauxetic Dysplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Ribosome biogenesis in eukaryotes. Affiliated tissues include bone.

Description from OMIM: 607095

Related Diseases for Anauxetic Dysplasia

Diseases in the Anauxetic Dysplasia family:

Anauxetic Dysplasia 1

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

id Related Disease Score Top Affiliating Genes
1 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.1
2 anauxetic dysplasia 1 12.0
3 cartilage-hair hypoplasia 10.2
4 atelosteogenesis 9.9 CCNB2 RMRP
5 dwarfism 9.9
6 charcot-marie-tooth neuropathy x type 5 9.8 LAMA2 RMRP
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.4 CCNB2 LAMA2 POP1 RMRP

Graphical network of the top 20 diseases related to Anauxetic Dysplasia:



Diseases related to Anauxetic Dysplasia

Symptoms & Phenotypes for Anauxetic Dysplasia

Symptoms by clinical synopsis from OMIM:

607095

Clinical features from OMIM:

607095

Human phenotypes related to Anauxetic Dysplasia:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 intellectual disability 32 HP:0001249
4 platyspondyly 32 HP:0000926
5 short toe 32 HP:0001831
6 rhizomelia 32 HP:0008905
7 brachydactyly syndrome 32 HP:0001156
8 hypodontia 32 HP:0000668
9 short finger 32 HP:0009381
10 hypoplastic ilia 32 HP:0000946
11 small epiphyses 32 HP:0010585
12 flared metaphysis 32 HP:0003015
13 j-shaped sella turcica 32 HP:0002680
14 delayed ossification of carpal bones 32 HP:0001216
15 cervical cord compression 32 HP:0002341
16 cervical subluxation 32 HP:0003308

Drugs & Therapeutics for Anauxetic Dysplasia

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia

Genetic Tests for Anauxetic Dysplasia

Genetic tests related to Anauxetic Dysplasia:

id Genetic test Affiliating Genes
1 Anauxetic Dysplasia 29 24 RMRP

Anatomical Context for Anauxetic Dysplasia

MalaCards organs/tissues related to Anauxetic Dysplasia:

39
Bone

Publications for Anauxetic Dysplasia

Articles related to Anauxetic Dysplasia:

id Title Authors Year
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

ClinVar genetic disease variations for Anauxetic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RMRP RMRP, 14-BP INS, NT111 insertion Pathogenic
2 RMRP RMRP, 14G-A single nucleotide variant Pathogenic
3 RMRP NR_003051.3(RMRP): n.91_92delAGinsGC indel Pathogenic rs387906533 GRCh37 Chromosome 9, 35657924: 35657925
4 RMRP RMRP, 254C-G single nucleotide variant Pathogenic
5 RMRP RMRP, 10-BP DEL, NT254 deletion Pathogenic

Expression for Anauxetic Dysplasia

Search GEO for disease gene expression data for Anauxetic Dysplasia.

Pathways for Anauxetic Dysplasia

Pathways related to Anauxetic Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 CCNB2 LAMA2
2 10.65 POP1 RMRP

GO Terms for Anauxetic Dysplasia

Sources for Anauxetic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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