ANXD1
MCID: ANX007
MIFTS: 41

Anauxetic Dysplasia 1 (ANXD1)

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

Aliases & Classifications for Anauxetic Dysplasia 1

MalaCards integrated aliases for Anauxetic Dysplasia 1:

Name: Anauxetic Dysplasia 1 58 12 30 6 15
Anauxetic Dysplasia 58 54 26 60 38 13 6 41 74
Spondylometaepiphyseal Dysplasia, Menger Type 58 12 26
Spondylometaepiphyseal Dysplasia, Anauxetic Type 58 26
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 58 60
Spondylometaepiphyseal Dysplasia Anauxetic Type 54
Spondyloepimetaphyseal Dysplasia, Menger Type 60
Spondylometaepiphyseal Dysplasia Menger Type 54
Anauxetic Dysplasia; Anxd 58
Anxd1 58
Anxd 58
Ad 26

Characteristics:

Orphanet epidemiological data:

60
anauxetic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
anauxetic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050640
OMIM 58 607095
KEGG 38 H01967
MESH via Orphanet 46 C538256
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C1846796
Orphanet 60 ORPHA93347
MedGen 43 C4551965
UMLS 74 C1846796

Summaries for Anauxetic Dysplasia 1

OMIM : 58 Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005). Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH; 250250) and metaphyseal dysplasia without hypotrichosis (250460). (607095)

MalaCards based summary : Anauxetic Dysplasia 1, also known as anauxetic dysplasia, is related to cartilage-hair hypoplasia and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders. An important gene associated with Anauxetic Dysplasia 1 is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include bone, heart and liver, and related phenotypes are hypertelorism and short neck

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.

Genetics Home Reference : 26 Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.

Related Diseases for Anauxetic Dysplasia 1

Diseases in the Anauxetic Dysplasia 1 family:

Anauxetic Dysplasia 2

Diseases related to Anauxetic Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 938)
# Related Disease Score Top Affiliating Genes
1 cartilage-hair hypoplasia 30.2 POP1 RMRP
2 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.3
3 alzheimer disease 12.2
4 hyper-ige recurrent infection syndrome 1, autosomal dominant 11.9
5 immunodeficiency 27b 11.8
6 myopathy, centronuclear, 1 11.7
7 renal tubular acidosis, distal, autosomal dominant 11.7
8 hypocalcemia, autosomal dominant 1 11.6
9 alzheimer disease 2 11.5
10 alzheimer disease 3 11.4
11 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.3
12 dermatitis, atopic 11.3
13 frontotemporal dementia 11.2
14 early-onset, autosomal dominant alzheimer disease 11.2
15 parkinson disease, late-onset 11.2
16 keratomalacia 11.2
17 posterior cortical atrophy 11.2
18 eosinophilic granulomatosis with polyangiitis 11.2
19 hyper ige syndrome 11.2
20 anauxetic dysplasia 2 11.2
21 epidermolysis bullosa dystrophica, autosomal dominant 11.1
22 familial mediterranean fever, autosomal dominant 11.1
23 palmoplantar keratoderma i, striate, focal, or diffuse 11.1
24 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.1
25 slowed nerve conduction velocity, autosomal dominant 11.1
26 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.1
27 renal tubular acidosis, distal 11.1
28 immunodeficiency 27a 11.0
29 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.0
30 alzheimer disease 6 11.0
31 immunodeficiency 31a 11.0
32 spinal muscular atrophy 11.0
33 brachyolmia 11.0
34 polycystic liver disease 11.0
35 adjustment disorder 11.0
36 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.0
37 alzheimer disease mitochondrial 11.0
38 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.0
39 acute disseminated encephalomyelitis 11.0
40 autosomal dominant proximal renal tubular acidosis 11.0
41 anemia, congenital dyserythropoietic, type iii 10.9
42 dementia, lewy body 10.9
43 heinz body anemias 10.9
44 parkinson disease 1, autosomal dominant 10.9
45 pick disease of brain 10.9
46 spinocerebellar ataxia 2 10.9
47 vasculopathy, retinal, with cerebral leukodystrophy 10.9
48 epidermolysis bullosa junctionalis with pyloric atresia 10.9
49 fanconi anemia, complementation group a 10.9
50 fructose intolerance, hereditary 10.9

Graphical network of the top 20 diseases related to Anauxetic Dysplasia 1:



Diseases related to Anauxetic Dysplasia 1

Symptoms & Phenotypes for Anauxetic Dysplasia 1

Human phenotypes related to Anauxetic Dysplasia 1:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 short neck 33 HP:0000470
3 intellectual disability 33 HP:0001249
4 platyspondyly 33 HP:0000926
5 short toe 33 HP:0001831
6 rhizomelia 33 HP:0008905
7 brachydactyly 33 HP:0001156
8 hypodontia 33 HP:0000668
9 short finger 33 HP:0009381
10 hypoplastic ilia 33 HP:0000946
11 small epiphyses 33 HP:0010585
12 flared metaphysis 33 HP:0003015
13 j-shaped sella turcica 33 HP:0002680
14 delayed ossification of carpal bones 33 HP:0001216
15 cervical subluxation 33 HP:0003308
16 cervical cord compression 33 HP:0002341

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Skeletal Hands:
brachydactyly
delayed carpal bone age

Head And Neck Teeth:
hypodontia

Skeletal Limbs:
small epiphyses
rhizomelic shortening
metaphyseal flaring

Head And Neck Neck:
short
cervical subluxation

Growth Height:
severely disproportionate short stature

Skeletal Spine:
platyspondyly
cervical subluxation

Skeletal Feet:
brachydactyly

Skeletal Pelvis:
hypoplastic ilia
slanting acetabular roots

Neurologic Central Nervous System:
mental retardation
cervical cord compression

Skeletal Skull:
j-shaped sella

Laboratory Abnormalities:
abnormal columnization of chondrocytes
dilated rough endoplasmic reticulum (rer)

Clinical features from OMIM:

607095

Drugs & Therapeutics for Anauxetic Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia 1

Genetic Tests for Anauxetic Dysplasia 1

Genetic tests related to Anauxetic Dysplasia 1:

# Genetic test Affiliating Genes
1 Anauxetic Dysplasia 1 30 RMRP

Anatomical Context for Anauxetic Dysplasia 1

MalaCards organs/tissues related to Anauxetic Dysplasia 1:

42
Bone, Heart, Liver, Prostate, Kidney, Skin, Thyroid

Publications for Anauxetic Dysplasia 1

Articles related to Anauxetic Dysplasia 1:

# Title Authors Year
1
Anauxetic dysplasia: A rare clinical entity. ( 30102486 )
2018
2
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. ( 27380734 )
2016
3
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? ( 25596067 )
2015
4
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. ( 22528854 )
2014
5
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. ( 21396580 )
2011
6
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. ( 17701897 )
2007
7
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. ( 16252239 )
2005
8
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. ( 11370632 )
2001
9
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. ( 8723091 )
1996

Variations for Anauxetic Dysplasia 1

ClinVar genetic disease variations for Anauxetic Dysplasia 1:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 RMRP RMRP: n.71A> G single nucleotide variant Pathogenic rs199476103 GRCh37 Chromosome 9, 35657945: 35657945
2 RMRP RMRP: n.71A> G single nucleotide variant Pathogenic rs199476103 GRCh38 Chromosome 9, 35657948: 35657948
3 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Likely pathogenic rs727502776 GRCh38 Chromosome 9, 35658028: 35658042
4 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Likely pathogenic rs727502776 GRCh37 Chromosome 9, 35658025: 35658039
5 RMRP NR_003051.3(RMRP): n.195dupT duplication Uncertain significance rs796065036 GRCh37 Chromosome 9, 35657821: 35657821
6 RMRP NR_003051.3(RMRP): n.195dupT duplication Uncertain significance rs796065036 GRCh38 Chromosome 9, 35657824: 35657824
7 RMRP RMRP, 14-BP INS, NT111 insertion Pathogenic
8 RMRP RMRP, 14G-A single nucleotide variant Pathogenic
9 RMRP NR_003051.3(RMRP): n.91_92delAGinsGC indel Pathogenic rs387906533 GRCh37 Chromosome 9, 35657924: 35657925
10 RMRP NR_003051.3(RMRP): n.91_92delAGinsGC indel Pathogenic rs387906533 GRCh38 Chromosome 9, 35657927: 35657928
11 RMRP RMRP, 254C-G single nucleotide variant Pathogenic
12 RMRP RMRP, 10-BP DEL, NT254 deletion Pathogenic
13 RMRP NR_003051.3(RMRP): n.-57T> C single nucleotide variant Benign rs3829077 GRCh37 Chromosome 9, 35658072: 35658072
14 RMRP NR_003051.3(RMRP): n.-57T> C single nucleotide variant Benign rs3829077 GRCh38 Chromosome 9, 35658075: 35658075
15 RMRP NR_003051.3(RMRP): n.-55A> G single nucleotide variant Benign rs12551232 GRCh37 Chromosome 9, 35658070: 35658070
16 RMRP NR_003051.3(RMRP): n.-55A> G single nucleotide variant Benign rs12551232 GRCh38 Chromosome 9, 35658073: 35658073
17 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Likely pathogenic rs786204684 GRCh37 Chromosome 9, 35657952: 35657952
18 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Likely pathogenic rs786204684 GRCh38 Chromosome 9, 35657955: 35657955
19 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh37 Chromosome 9, 35657869: 35657869
20 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh38 Chromosome 9, 35657872: 35657872
21 RMRP NR_003051.3(RMRP): n.-7A> G single nucleotide variant Likely benign rs111909453 GRCh37 Chromosome 9, 35658022: 35658022
22 RMRP NR_003051.3(RMRP): n.-7A> G single nucleotide variant Likely benign rs111909453 GRCh38 Chromosome 9, 35658025: 35658025
23 RMRP NR_003051.3(RMRP): n.-23C> G single nucleotide variant Benign/Likely benign rs188660894 GRCh37 Chromosome 9, 35658038: 35658038
24 RMRP NR_003051.3(RMRP): n.-23C> G single nucleotide variant Benign/Likely benign rs188660894 GRCh38 Chromosome 9, 35658041: 35658041
25 RMRP NR_003051.3(RMRP): n.124C> A single nucleotide variant Uncertain significance rs758130879 GRCh37 Chromosome 9, 35657892: 35657892
26 RMRP NR_003051.3(RMRP): n.124C> A single nucleotide variant Uncertain significance rs758130879 GRCh38 Chromosome 9, 35657895: 35657895
27 RMRP NR_003051.3(RMRP): n.140A> G single nucleotide variant Conflicting interpretations of pathogenicity rs578091934 GRCh37 Chromosome 9, 35657876: 35657876
28 RMRP NR_003051.3(RMRP): n.140A> G single nucleotide variant Conflicting interpretations of pathogenicity rs578091934 GRCh38 Chromosome 9, 35657879: 35657879
29 RMRP NR_003051.3(RMRP): n.180dup duplication Uncertain significance rs940080676 GRCh37 Chromosome 9, 35657836: 35657836
30 RMRP NR_003051.3(RMRP): n.257_266delCAGCGCGGCT deletion Uncertain significance rs1383432106 GRCh37 Chromosome 9, 35657750: 35657759
31 RMRP NR_003051.3(RMRP): n.257_266delCAGCGCGGCT deletion Uncertain significance rs1383432106 GRCh38 Chromosome 9, 35657753: 35657762
32 RMRP NR_003051.3(RMRP): n.180dup duplication Uncertain significance rs940080676 GRCh38 Chromosome 9, 35657839: 35657839
33 RMRP NR_003051.3(RMRP): n.128G> C single nucleotide variant Likely benign rs74810894 GRCh37 Chromosome 9, 35657888: 35657888
34 RMRP NR_003051.3(RMRP): n.128G> C single nucleotide variant Likely benign rs74810894 GRCh38 Chromosome 9, 35657891: 35657891
35 RMRP NR_003051.3(RMRP): n.54C> T single nucleotide variant Likely benign rs193117694 GRCh37 Chromosome 9, 35657962: 35657962
36 RMRP NR_003051.3(RMRP): n.54C> T single nucleotide variant Likely benign rs193117694 GRCh38 Chromosome 9, 35657965: 35657965
37 RMRP NR_003051.3(RMRP): n.-25_-13dup duplication Likely pathogenic rs1554651508 GRCh37 Chromosome 9, 35658028: 35658040
38 RMRP NR_003051.3(RMRP): n.-25_-13dup duplication Likely pathogenic rs1554651508 GRCh38 Chromosome 9, 35658031: 35658043
39 RMRP NR_003051.3(RMRP): n.97_98dup duplication Likely pathogenic rs1340624774 GRCh37 Chromosome 9, 35657918: 35657919
40 RMRP NR_003051.3(RMRP): n.97_98dup duplication Likely pathogenic rs1340624774 GRCh38 Chromosome 9, 35657921: 35657922
41 RMRP NR_003051.3(RMRP): n.66A> G single nucleotide variant Uncertain significance rs530883024 GRCh37 Chromosome 9, 35657950: 35657950
42 RMRP NR_003051.3(RMRP): n.66A> G single nucleotide variant Uncertain significance rs530883024 GRCh38 Chromosome 9, 35657953: 35657953
43 RMRP NR_003051.3(RMRP): n.-21_-9dup duplication Likely pathogenic rs751921616 GRCh37 Chromosome 9, 35658024: 35658036
44 RMRP NR_003051.3(RMRP): n.-21_-9dup duplication Likely pathogenic rs751921616 GRCh38 Chromosome 9, 35658027: 35658039
45 RMRP NR_003051.3(RMRP): n.181G> C single nucleotide variant Uncertain significance rs1004469515 GRCh37 Chromosome 9, 35657835: 35657835
46 RMRP NR_003051.3(RMRP): n.181G> C single nucleotide variant Uncertain significance rs1004469515 GRCh38 Chromosome 9, 35657838: 35657838
47 RMRP NR_003051.3(RMRP): n.-5delins17 indel Likely pathogenic GRCh37 Chromosome 9, 35658020: 35658020
48 RMRP NR_003051.3(RMRP): n.-5delins17 indel Likely pathogenic GRCh38 Chromosome 9, 35658023: 35658023
49 RMRP NR_003051.3(RMRP): n.268T> C single nucleotide variant Likely benign rs572399988 GRCh37 Chromosome 9, 35657748: 35657748
50 RMRP NR_003051.3(RMRP): n.268T> C single nucleotide variant Likely benign rs572399988 GRCh38 Chromosome 9, 35657751: 35657751

Expression for Anauxetic Dysplasia 1

Search GEO for disease gene expression data for Anauxetic Dysplasia 1.

Pathways for Anauxetic Dysplasia 1

Pathways related to Anauxetic Dysplasia 1 according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Anauxetic Dysplasia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 POP1 RMRP

GO Terms for Anauxetic Dysplasia 1

Cellular components related to Anauxetic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease MRP complex GO:0000172 8.62 POP1 RMRP

Biological processes related to Anauxetic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA phosphodiester bond hydrolysis GO:0090501 8.62 POP1 RMRP

Molecular functions related to Anauxetic Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease MRP activity GO:0000171 8.62 POP1 RMRP

Sources for Anauxetic Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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