MCID: ANX007
MIFTS: 34

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 54 12 29
Anauxetic Dysplasia 50 24 25 56 13 14 69
Spondylometaepiphyseal Dysplasia, Menger Type 12 25
Spondylometaepiphyseal Dysplasia, Anauxetic Type 25
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 56
Spondylometaepiphyseal Dysplasia Anauxetic Type 50
Spondyloepimetaphyseal Dysplasia, Menger Type 56
Spondylometaepiphyseal Dysplasia Menger Type 50
Ad 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
anauxetic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607095
Disease Ontology 12 DOID:0050640
Orphanet 56 ORPHA93347
MESH via Orphanet 43 C538256
UMLS via Orphanet 70 C1846796
ICD10 via Orphanet 34 Q77.7

Summaries for Anauxetic Dysplasia 1

OMIM : 54
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 anauxetic dysplasia 2 and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including brachydactyly, hypertelorism and platyspondyly. 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.

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.

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.

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 459)
id Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 2 12.3
2 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.1
3 immunodeficiency 27b, mycobacteriosis, ad 12.0
4 renal tubular acidosis, distal, ad 12.0
5 alzheimer disease 11.9
6 keratosis palmoplantaris striata i, ad 11.8
7 emery-dreifuss muscular dystrophy 7, ad 11.7
8 epidermolysis bullosa dystrophica, ad 11.7
9 slowed nerve conduction velocity, ad 11.7
10 familial mediterranean fever, ad 11.7
11 spinal muscular atrophy, lower extremity-predominant, 2, ad 11.7
12 emery-dreifuss muscular dystrophy 2, ad 11.7
13 spinal muscular atrophy, lower extremity-predominant 1, ad 11.7
14 dopa-responsive dystonia; segawa syndrome ad 11.7
15 mitochondrial dna depletion syndrome 12a ad 11.7
16 hyper-ige recurrent infection syndrome 11.6
17 alzheimer disease-2 11.4
18 centronuclear myopathy, autosomal, modifier of 11.4
19 hypocalcemia, autosomal dominant 11.3
20 atopic dermatitis 11.0
21 early-onset, autosomal dominant alzheimer disease 11.0
22 posterior cortical atrophy 11.0
23 hyper ige syndrome 10.9
24 pick disease 10.9
25 renal tubular acidosis, distal 10.9
26 immunodeficiency 31a, mycobacteriosis, autosomal dominant 10.9
27 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.8
28 immunodeficiency 27a, mycobacteriosis, ar 10.8
29 brachyolmia 10.8
30 dementia, frontotemporal 10.8
31 polycystic liver disease 10.8
32 adjustment disorder 10.8
33 hyper-ige recurrent infection syndrome, autosomal recessive 10.8
34 alzheimer disease 6 10.8
35 alzheimer disease mitochondrial 10.7
36 alzheimer disease type 1 10.7
37 alzheimer disease-4 10.7
38 alzheimer disease, type 3 10.7
39 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.7
40 acute disseminated encephalomyelitis 10.7
41 tmem43-related emery-dreifuss muscular dystrophy, autosomal 10.7
42 autosomal dominant proximal renal tubular acidosis 10.7
43 alzheimer's disease 5 10.7
44 dnm2-related intermediate charcot-marie-tooth neuropathy 10.7
45 dyserythropoietic anemia, congenital, type iii 10.6
46 rohhad 10.6
47 spinocerebellar ataxia 2 10.6
48 auditory neuropathy 10.6
49 semantic dementia 10.6
50 camurati-engelmann disease 10.6

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:

54

Skeletal- Feet:
brachydactyly

Neurologic- Central Nervous System:
mental retardation
cervical cord compression

Skeletal- Spine:
platyspondyly
cervical subluxation

Skeletal- Pelvis:
hypoplastic ilia
slanting acetabular roots

Head And Neck- Neck:
cervical subluxation
short

Growth- Height:
severely disproportionate short stature

Skeletal- Hands:
brachydactyly
delayed carpal bone age

Head And Neck- Eyes:
hypertelorism

Skeletal- Limbs:
rhizomelic shortening
metaphyseal flaring
small epiphyses

Head And Neck- Teeth:
hypodontia

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

id Genetic test Affiliating Genes
1 Anauxetic Dysplasia 1 29
2 Anauxetic Dysplasia 24 RMRP

Anatomical Context for Anauxetic Dysplasia 1

MalaCards organs/tissues related to Anauxetic Dysplasia 1:

39
Bone

Publications for Anauxetic Dysplasia 1

Variations for Anauxetic Dysplasia 1

ClinVar genetic disease variations for Anauxetic Dysplasia 1:

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 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.65 POP1 RMRP

GO Terms for Anauxetic Dysplasia 1

Sources for Anauxetic Dysplasia 1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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