ANXD1
MCID: ANX007
MIFTS: 45

Anauxetic Dysplasia 1 (ANXD1)

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

Aliases & Classifications for Anauxetic Dysplasia 1

MalaCards integrated aliases for Anauxetic Dysplasia 1:

Name: Anauxetic Dysplasia 1 57 12 29 6 15
Anauxetic Dysplasia 57 53 25 59 37 13 6 40 72
Spondylometaepiphyseal Dysplasia, Menger Type 57 12 25
Spondylometaepiphyseal Dysplasia, Anauxetic Type 57 25
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 57 59
Spondylometaepiphyseal Dysplasia Anauxetic Type 53
Spondyloepimetaphyseal Dysplasia, Menger Type 59
Spondylometaepiphyseal Dysplasia Menger Type 53
Anauxetic Dysplasia; Anxd 57
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:

Disease Ontology 12 DOID:0050640
KEGG 37 H01967
MESH via Orphanet 45 C538256
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C1846796
Orphanet 59 ORPHA93347
MedGen 42 C4551965
UMLS 72 C1846796

Summaries for Anauxetic Dysplasia 1

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. People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can also occur in this disorder, and may cause pinching (compression) of the spinal cord. As a result, affected individuals may experience neurological symptoms including pain, tingling, numbness, coordination problems, weakness, and paralysis. In severe cases, the spinal cord compression may lead to paralysis of the muscles needed for breathing, which can be life-threatening during early childhood. Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest and a rounded upper back that also curves to the side (kyphoscoliosis). Without surgical correction, the kyphoscoliosis can constrict the lungs and cause difficulty breathing. People with anauxetic dysplasia can also have an exaggerated curvature of the lower back (hyperlordosis), dislocation of the hips, and soles of the feet that are rounded outward (rocker-bottom feet). Typical facial features in anauxetic dysplasia include closely spaced eyes (hypotelorism), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin (prognathism). Affected individuals can also have fewer teeth than normal (hypodontia).

MalaCards based summary : Anauxetic Dysplasia 1, also known as anauxetic dysplasia, is related to metaphyseal dysplasia without hypotrichosis and cartilage-hair hypoplasia. 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. The drugs Ethanol and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and tongue, 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.

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)

KEGG : 37
Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex.

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 1545)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia without hypotrichosis 29.9 RMRP CCDC107
2 cartilage-hair hypoplasia 29.8 RMRP POP1
3 pyle disease 29.3 RMRP POP1
4 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.5
5 alzheimer disease 12.4
6 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.1
7 immunodeficiency 27b 11.9
8 myopathy, centronuclear, 1 11.9
9 early-onset, autosomal dominant alzheimer disease 11.7
10 alzheimer disease 2 11.7
11 hypocalcemia, autosomal dominant 1 11.7
12 alcohol dependence 11.6
13 dermatitis, atopic 11.6
14 alzheimer disease 3 11.6
15 alzheimer disease 6 11.5
16 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.5
17 polycystic liver disease 11.5
18 acute disseminated encephalomyelitis 11.4
19 renal tubular acidosis, distal, autosomal dominant 11.4
20 frontotemporal dementia 11.4
21 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.3
22 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.3
23 parkinson disease, late-onset 11.3
24 posterior cortical atrophy 11.3
25 pick disease of brain 11.3
26 dementia, lewy body 11.3
27 keratomalacia 11.3
28 hypoascorbemia 11.3
29 rickets 11.3
30 eosinophilic granulomatosis with polyangiitis 11.3
31 hyper ige syndrome 11.3
32 semantic dementia 11.3
33 anauxetic dysplasia 2 11.3
34 epidermolysis bullosa dystrophica, autosomal dominant 11.2
35 familial mediterranean fever, autosomal dominant 11.2
36 palmoplantar keratoderma i, striate, focal, or diffuse 11.2
37 slowed nerve conduction velocity, autosomal dominant 11.2
38 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.2
39 distal renal tubular acidosis 11.2
40 immunodeficiency 27a 11.2
41 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.2
42 immunodeficiency 31a 11.2
43 brachyolmia 11.2
44 spinal muscular atrophy 11.2
45 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.1
46 alzheimer disease mitochondrial 11.1
47 autosomal dominant spastic ataxia 11.1
48 autosomal dominant proximal renal tubular acidosis 11.1
49 anemia, congenital dyserythropoietic, type iii 11.0
50 heinz body anemias 11.0

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:

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 delayed ossification of carpal bones 32 HP:0001216
15 cervical cord compression 32 HP:0002341
16 cervical subluxation 32 HP:0003308

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:
cervical subluxation
short

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:
cervical cord compression
mental retardation

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

Drugs for Anauxetic Dysplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2 Central Nervous System Depressants
3 Anti-Infective Agents, Local
4 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physiological Stress Reactivity as a Determinant in Co-occurring Alcohol Use and Anxiety Disorder: Diagnosis and Alcohol Use Outcomes Recruiting NCT03056872

Search 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, Lung, Tongue, Eye, Spinal Cord

Publications for Anauxetic Dysplasia 1

Articles related to Anauxetic Dysplasia 1:

(show all 13)
# Title Authors PMID Year
1
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 38 8 71
16252239 2005
2
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. 38 8 71
11370632 2001
3
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. 8 71
8723091 1996
4
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders 38 71
22420014 2012
5
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 38 71
17701897 2007
6
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 38
31250547 2019
7
Anauxetic dysplasia: A rare clinical entity. 38
30102486 2018
8
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. 38
28067412 2017
9
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. 38
27380734 2016
10
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? 38
25596067 2015
11
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. 38
22528854 2014
12
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 38
21455487 2011
13
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 38
21396580 2011

Variations for Anauxetic Dysplasia 1

ClinVar genetic disease variations for Anauxetic Dysplasia 1:

6 (show top 50) (show all 106)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RMRP NR_003051.3(RMRP): n.71A> G single nucleotide variant Pathogenic rs199476103 9:35657945-35657945 9:35657948-35657948
2 RMRP RMRP, 14-BP INS, NT111 insertion Pathogenic
3 RMRP RMRP, 14G-A single nucleotide variant Pathogenic
4 RMRP NR_003051.3(RMRP): n.91_92delinsGC indel Pathogenic rs387906533 9:35657924-35657925 9:35657927-35657928
5 RMRP RMRP, 254C-G single nucleotide variant Pathogenic
6 RMRP RMRP, 10-BP DEL, NT254 deletion Pathogenic
7 RMRP NR_003051.3(RMRP): n.219A> G single nucleotide variant Pathogenic 9:35657797-35657797 9:35657800-35657800
8 RMRP NR_003051.3(RMRP): n.196C> T single nucleotide variant Pathogenic/Likely pathogenic 9:35657820-35657820 9:35657823-35657823
9 RMRP NR_003051.3(RMRP): n.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 9:35657869-35657869 9:35657872-35657872
10 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Pathogenic/Likely pathogenic rs786204684 9:35657952-35657952 9:35657955-35657955
11 RMRP NR_003051.3(RMRP): n.-24_-18dupACTACTC duplication Pathogenic/Likely pathogenic rs1554651543 9:35658032-35658032 9:35658036-35658042
12 RMRP NR_003051.3(RMRP): n.-33_3dup duplication Likely pathogenic 9:35658013-35658048 9:35658016-35658051
13 RMRP NR_003051.3(RMRP): n.-22_-1dup duplication Likely pathogenic 9:35658015-35658016 9:35658019-35658040
14 RMRP NR_003051.3(RMRP): n.-30_-7dup duplication Likely pathogenic 9:35658021-35658022 9:35658025-35658048
15 RMRP NR_003051.3(RMRP): n.-20_2dup duplication Likely pathogenic 9:35658013-35658014 9:35658017-35658038
16 RMRP NR_003051.3(RMRP): n.-22_-14dup duplication Likely pathogenic 9:35658028-35658029 9:35658032-35658040
17 RMRP NR_003051.3(RMRP): n.-24_-17dup duplication Likely pathogenic 9:35658031-35658032 9:35658035-35658042
18 RMRP NR_003051.3(RMRP): n.-15_-8dup duplication Likely pathogenic 9:35658022-35658023 9:35658026-35658033
19 RMRP NR_003051.3(RMRP): n.-25_-13dup duplication Likely pathogenic rs1554651508 9:35658028-35658040 9:35658031-35658043
20 RMRP NR_003051.3(RMRP): n.97_98dup duplication Likely pathogenic rs1340624774 9:35657918-35657919 9:35657921-35657922
21 RMRP NR_003051.3(RMRP): n.-21_-9dupACTCTGTGAAGCT duplication Likely pathogenic rs751921616 9:35658024-35658036 9:35658027-35658039
22 RMRP NR_003051.3(RMRP): n.243A> G single nucleotide variant Likely pathogenic rs551450545 9:35657773-35657773 9:35657776-35657776
23 RMRP NR_003051.3(RMRP): n.-5delins17 indel Likely pathogenic 9:35658020-35658020 9:35658023-35658023
24 RMRP NR_003051.3(RMRP): n.-23_-10dup14 duplication Likely pathogenic rs1554651489 9:35658024-35658024 9:35658028-35658041
25 RMRP NR_003051.3(RMRP): n.-13_-6dupAAGCTGAG duplication Likely pathogenic 9:35658021-35658028 9:35658024-35658031
26 RMRP NR_003051.3(RMRP): n.-22_-13dup duplication Likely pathogenic rs1554651507 9:35658028-35658037 9:35658031-35658040
27 RMRP NR_003051.3(RMRP): n.-24_-10dup duplication Likely pathogenic rs727502776 9:35658025-35658039 9:35658028-35658042
28 RMRP NR_003051.3(RMRP): n.-20_-2dup19 duplication Likely pathogenic rs1554651404 9:35658016-35658016 9:35658020-35658038
29 RMRP NR_003051.3(RMRP): n.-24_-12dup13 duplication Likely pathogenic rs781730798 9:35658026-35658026 9:35658030-35658042
30 RMRP NR_003051.3(RMRP): n.-25_-3dup23 duplication Likely pathogenic rs1554651413 9:35658017-35658017 9:35658021-35658043
31 RMRP NR_003051.3(RMRP): n.5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs772443941 9:35658011-35658011 9:35658014-35658014
32 RMRP NR_003051.3(RMRP): n.-7_1dupAAGACGTG duplication Conflicting interpretations of pathogenicity rs752934195 9:35658015-35658022 9:35658018-35658025
33 RMRP NR_003051.3(RMRP): n.146C> T single nucleotide variant Conflicting interpretations of pathogenicity rs757576534 9:35657870-35657870 9:35657873-35657873
34 RMRP NR_003051.3(RMRP): n.140A> G single nucleotide variant Conflicting interpretations of pathogenicity rs578091934 9:35657876-35657876 9:35657879-35657879
35 RMRP NR_003051.3(RMRP): n.257_266del deletion Uncertain significance rs1383432106 9:35657750-35657759 9:35657753-35657762
36 RMRP NR_003051.3(RMRP): n.180dup duplication Uncertain significance rs940080676 9:35657836-35657836 9:35657839-35657839
37 RMRP NR_003051.3(RMRP): n.124C> A single nucleotide variant Uncertain significance rs758130879 9:35657892-35657892 9:35657895-35657895
38 RMRP NR_003051.3(RMRP): n.181G> C single nucleotide variant Uncertain significance rs1004469515 9:35657835-35657835 9:35657838-35657838
39 RMRP NR_003051.3(RMRP): n.66A> G single nucleotide variant Uncertain significance rs530883024 9:35657950-35657950 9:35657953-35657953
40 RMRP NR_003051.3(RMRP): n.-21_-19dupACT short repeat Uncertain significance rs1029136594 9:35658033-35658033 9:35658037-35658039
41 RMRP NR_003051.3(RMRP): n.-54T> A single nucleotide variant Uncertain significance rs181777676 9:35658069-35658069 9:35658072-35658072
42 RMRP NR_003051.3(RMRP): n.238_241delACCA short repeat Uncertain significance rs1554651108 9:35657774-35657778 9:35657778-35657781
43 RMRP NR_003051.3(RMRP): n.7T> G single nucleotide variant Uncertain significance rs587781140 9:35658009-35658009 9:35658012-35658012
44 RMRP NR_003051.3(RMRP): n.111G> A single nucleotide variant Uncertain significance rs1031995271 9:35657905-35657905 9:35657908-35657908
45 RMRP NR_003051.3(RMRP): n.26A> G single nucleotide variant Uncertain significance rs1554651331 9:35657990-35657990 9:35657993-35657993
46 RMRP NR_003051.3(RMRP): n.1G> A single nucleotide variant Uncertain significance rs773520232 9:35658015-35658015 9:35658018-35658018
47 RMRP NR_003051.3(RMRP): n.159A> G single nucleotide variant Uncertain significance rs535595484 9:35657857-35657857 9:35657860-35657860
48 RMRP NR_003051.3(RMRP): n.145C> T single nucleotide variant Uncertain significance rs759632477 9:35657871-35657871 9:35657874-35657874
49 RMRP NR_003051.3(RMRP): n.36C> T single nucleotide variant Uncertain significance rs549085067 9:35657980-35657980 9:35657983-35657983
50 RMRP NR_003051.3(RMRP): n.-26_1dup duplication Uncertain significance rs1554651385 9:35658015-35658041 9:35658018-35658044

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 RMRP POP1

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 RMRP POP1

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 RMRP POP1

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 RMRP POP1

Sources for Anauxetic Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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