MCID: ANX007
MIFTS: 36

Anauxetic Dysplasia 1

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

Aliases & Classifications for Anauxetic Dysplasia 1

MalaCards integrated aliases for Anauxetic Dysplasia 1:

Name: Anauxetic Dysplasia 1 57 12 29 6
Anauxetic Dysplasia 57 53 25 59 37 13 6 15 40 73
Spondylometaepiphyseal Dysplasia, Menger Type 57 12 25
Anauxetic Dysplasia; Anxd; Spondylometaepiphyseal Dysplasia, Anauxetic Type 57
Spondylometaepiphyseal Dysplasia, Anauxetic Type 25
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 59
Spondylometaepiphyseal Dysplasia Anauxetic Type 53
Spondyloepimetaphyseal Dysplasia, Menger Type 59
Spondylometaepiphyseal Dysplasia Menger Type 53
Anxd1 57
Anxd 57
Ad 25

Characteristics:

Orphanet epidemiological data:

59
anauxetic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
anauxetic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607095
Disease Ontology 12 DOID:0050640
Orphanet 59 ORPHA93347
MESH via Orphanet 45 C538256
UMLS via Orphanet 74 C1846796
ICD10 via Orphanet 34 Q77.7
MedGen 42 C1846796
KEGG 37 H01967
UMLS 73 C1846796

Summaries for Anauxetic Dysplasia 1

OMIM : 57 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 alzheimer disease and dopa-responsive dystonia; segawa syndrome ad. 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, 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 : 25 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 542)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 12.0
2 dopa-responsive dystonia; segawa syndrome ad 11.9
3 hyper-ige recurrent infection syndrome, autosomal dominant 11.7
4 immunodeficiency 27b 11.6
5 myopathy, centronuclear, 1 11.5
6 renal tubular acidosis, distal, autosomal dominant 11.5
7 hypocalcemia, autosomal dominant 1 11.4
8 alzheimer disease 2 11.4
9 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.2
10 frontotemporal dementia 11.2
11 dermatitis, atopic 11.1
12 early-onset, autosomal dominant alzheimer disease 11.1
13 posterior cortical atrophy 11.0
14 eosinophilic granulomatosis with polyangiitis 11.0
15 hyper ige syndrome 11.0
16 anauxetic dysplasia 2 11.0
17 immunodeficiency 31a 10.9
18 renal tubular acidosis, distal 10.9
19 epidermolysis bullosa dystrophica, autosomal dominant 10.9
20 familial mediterranean fever, autosomal dominant 10.9
21 palmoplantar keratoderma i, striate, focal, or diffuse 10.9
22 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 10.9
23 slowed nerve conduction velocity, autosomal dominant 10.9
24 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.9
25 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 10.9
26 immunodeficiency 27a 10.9
27 hyper-ige recurrent infection syndrome, autosomal recessive 10.9
28 alzheimer disease 6 10.9
29 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9
30 brachyolmia 10.9
31 polycystic liver disease 10.9
32 adjustment disorder 10.9
33 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.8
34 alzheimer disease mitochondrial 10.8
35 alzheimer disease 3 10.8
36 mitochondrial dna depletion syndrome 12a , autosomal dominant 10.8
37 acute disseminated encephalomyelitis 10.8
38 autosomal dominant proximal renal tubular acidosis 10.8
39 anemia, congenital dyserythropoietic, type iii 10.7
40 dementia, lewy body 10.7
41 heinz body anemias 10.7
42 parkinson disease, late-onset 10.7
43 parkinson disease 1, autosomal dominant 10.7
44 pick disease of brain 10.7
45 spinocerebellar ataxia 2 10.7
46 vasculopathy, retinal, with cerebral leukodystrophy 10.7
47 epidermolysis bullosa junctionalis with pyloric atresia 10.7
48 fanconi anemia, complementation group a 10.7
49 fructose intolerance, hereditary 10.7
50 hypoascorbemia 10.7

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



Diseases related to Anauxetic Dysplasia 1

Symptoms & Phenotypes for Anauxetic Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Anauxetic Dysplasia 1:

32 (show all 16)
# 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 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 cervical subluxation 32 HP:0003308
15 cervical cord compression 32 HP:0002341
16 delayed ossification of carpal bones 32 HP:0001216

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 29 RMRP

Anatomical Context for Anauxetic Dysplasia 1

MalaCards organs/tissues related to Anauxetic Dysplasia 1:

41
Bone

Publications for Anauxetic Dysplasia 1

Articles related to Anauxetic Dysplasia 1:

# 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 1

ClinVar genetic disease variations for Anauxetic Dysplasia 1:

6
(show top 50) (show all 68)
# 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 RMRP, 14-BP INS, NT111 insertion Pathogenic
4 RMRP RMRP, 14G-A single nucleotide variant Pathogenic
5 RMRP NR_003051.3(RMRP): n.91_92delAGinsGC indel Pathogenic rs387906533 GRCh37 Chromosome 9, 35657924: 35657925
6 RMRP NR_003051.3(RMRP): n.91_92delAGinsGC indel Pathogenic rs387906533 GRCh38 Chromosome 9, 35657927: 35657928
7 RMRP RMRP, 254C-G single nucleotide variant Pathogenic
8 RMRP RMRP, 10-BP DEL, NT254 deletion Pathogenic
9 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh37 Chromosome 9, 35657869: 35657869
10 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh38 Chromosome 9, 35657872: 35657872
11 RMRP NR_003051.3(RMRP): n.-7A> G single nucleotide variant Likely benign rs111909453 GRCh37 Chromosome 9, 35658022: 35658022
12 RMRP NR_003051.3(RMRP): n.-7A> G single nucleotide variant Likely benign rs111909453 GRCh38 Chromosome 9, 35658025: 35658025
13 RMRP NR_003051.3(RMRP): n.-23C> G single nucleotide variant Benign/Likely benign rs188660894 GRCh37 Chromosome 9, 35658038: 35658038
14 RMRP NR_003051.3(RMRP): n.-23C> G single nucleotide variant Benign/Likely benign rs188660894 GRCh38 Chromosome 9, 35658041: 35658041
15 RMRP NR_003051.3(RMRP): n.257_266delCAGCGCGGCT deletion Uncertain significance GRCh38 Chromosome 9, 35657753: 35657762
16 RMRP NR_003051.3(RMRP): n.257_266delCAGCGCGGCT deletion Uncertain significance GRCh37 Chromosome 9, 35657750: 35657759
17 RMRP NR_003051.3(RMRP): n.180dup duplication Uncertain significance GRCh38 Chromosome 9, 35657839: 35657839
18 RMRP NR_003051.3(RMRP): n.180dup duplication Uncertain significance GRCh37 Chromosome 9, 35657836: 35657836
19 RMRP NR_003051.3(RMRP): n.128G> C single nucleotide variant Likely benign rs74810894 GRCh38 Chromosome 9, 35657891: 35657891
20 RMRP NR_003051.3(RMRP): n.128G> C single nucleotide variant Likely benign rs74810894 GRCh37 Chromosome 9, 35657888: 35657888
21 RMRP NR_003051.3(RMRP): n.54C> T single nucleotide variant Likely benign rs193117694 GRCh38 Chromosome 9, 35657965: 35657965
22 RMRP NR_003051.3(RMRP): n.54C> T single nucleotide variant Likely benign rs193117694 GRCh37 Chromosome 9, 35657962: 35657962
23 RMRP NR_003051.3(RMRP): n.-25_-13dup duplication Likely pathogenic GRCh38 Chromosome 9, 35658031: 35658043
24 RMRP NR_003051.3(RMRP): n.-25_-13dup duplication Likely pathogenic GRCh37 Chromosome 9, 35658028: 35658040
25 RMRP NR_003051.3(RMRP): n.97_98dup duplication Likely pathogenic GRCh38 Chromosome 9, 35657921: 35657922
26 RMRP NR_003051.3(RMRP): n.97_98dup duplication Likely pathogenic GRCh37 Chromosome 9, 35657918: 35657919
27 RMRP NR_003051.3(RMRP): n.66A> G single nucleotide variant Uncertain significance rs530883024 GRCh38 Chromosome 9, 35657953: 35657953
28 RMRP NR_003051.3(RMRP): n.66A> G single nucleotide variant Uncertain significance rs530883024 GRCh37 Chromosome 9, 35657950: 35657950
29 RMRP NR_003051.3(RMRP): n.-21_-9dup duplication Likely pathogenic GRCh38 Chromosome 9, 35658027: 35658039
30 RMRP NR_003051.3(RMRP): n.-21_-9dup duplication Likely pathogenic GRCh37 Chromosome 9, 35658024: 35658036
31 RMRP NR_003051.3(RMRP): n.181G> C single nucleotide variant Uncertain significance rs1004469515 GRCh37 Chromosome 9, 35657835: 35657835
32 RMRP NR_003051.3(RMRP): n.181G> C single nucleotide variant Uncertain significance rs1004469515 GRCh38 Chromosome 9, 35657838: 35657838
33 RMRP NR_003051.3(RMRP): n.-5delins17 indel Likely pathogenic GRCh38 Chromosome 9, 35658023: 35658023
34 RMRP NR_003051.3(RMRP): n.-5delins17 indel Likely pathogenic GRCh37 Chromosome 9, 35658020: 35658020
35 RMRP NR_003051.3(RMRP): n.268T> C single nucleotide variant Likely benign rs572399988 GRCh38 Chromosome 9, 35657751: 35657751
36 RMRP NR_003051.3(RMRP): n.268T> C single nucleotide variant Likely benign rs572399988 GRCh37 Chromosome 9, 35657748: 35657748
37 RMRP NR_003051.3(RMRP): n.264G> A single nucleotide variant Uncertain significance rs578123788 GRCh38 Chromosome 9, 35657755: 35657755
38 RMRP NR_003051.3(RMRP): n.264G> A single nucleotide variant Uncertain significance rs578123788 GRCh37 Chromosome 9, 35657752: 35657752
39 RMRP NR_003051.3(RMRP): n.176G> A single nucleotide variant Likely benign rs377566038 GRCh37 Chromosome 9, 35657840: 35657840
40 RMRP NR_003051.3(RMRP): n.176G> A single nucleotide variant Likely benign rs377566038 GRCh38 Chromosome 9, 35657843: 35657843
41 RMRP NR_003051.3(RMRP): n.46T> A single nucleotide variant Likely benign rs529328233 GRCh37 Chromosome 9, 35657970: 35657970
42 RMRP NR_003051.3(RMRP): n.46T> A single nucleotide variant Likely benign rs529328233 GRCh38 Chromosome 9, 35657973: 35657973
43 RMRP NR_003051.3(RMRP): n.7T> G single nucleotide variant Uncertain significance rs587781140 GRCh38 Chromosome 9, 35658012: 35658012
44 RMRP NR_003051.3(RMRP): n.7T> G single nucleotide variant Uncertain significance rs587781140 GRCh37 Chromosome 9, 35658009: 35658009
45 RMRP NR_003051.3(RMRP): n.-9T> G single nucleotide variant Likely benign rs12552387 GRCh37 Chromosome 9, 35658024: 35658024
46 RMRP NR_003051.3(RMRP): n.-9T> G single nucleotide variant Likely benign rs12552387 GRCh38 Chromosome 9, 35658027: 35658027
47 RMRP NR_003051.3(RMRP): n.111G> A single nucleotide variant Uncertain significance rs1031995271 GRCh37 Chromosome 9, 35657905: 35657905
48 RMRP NR_003051.3(RMRP): n.111G> A single nucleotide variant Uncertain significance rs1031995271 GRCh38 Chromosome 9, 35657908: 35657908
49 RMRP NR_003051.3(RMRP): n.26A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35657990: 35657990
50 RMRP NR_003051.3(RMRP): n.26A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 35657993: 35657993

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:

37
# 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

Sources for Anauxetic Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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