ANXD1
MCID: ANX007
MIFTS: 44

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 56 12 29 6 15
Anauxetic Dysplasia 56 52 25 58 36 13 6 39 71
Spondylometaepiphyseal Dysplasia, Menger Type 56 12 25
Spondylometaepiphyseal Dysplasia, Anauxetic Type 56 25
Spondyloepimetaphyseal Dysplasia, Anauxetic Type 56 58
Spondylometaepiphyseal Dysplasia Anauxetic Type 52
Spondyloepimetaphyseal Dysplasia, Menger Type 58
Spondylometaepiphyseal Dysplasia Menger Type 52
Anauxetic Dysplasia; Anxd 56
Anxd1 56
Anxd 56
Ad 25

Characteristics:

Orphanet epidemiological data:

58
anauxetic dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
anauxetic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050640
OMIM 56 607095
OMIM Phenotypic Series 56 PS607095
KEGG 36 H01967
MESH via Orphanet 44 C538256
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C1846796
Orphanet 58 ORPHA93347
MedGen 41 C4551965
UMLS 71 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 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders and alzheimer disease. 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, heart and lung, 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 : 56 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 : 36 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 1554)
# Related Disease Score Top Affiliating Genes
1 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.5
2 alzheimer disease 12.4
3 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.1
4 immunodeficiency 27b 11.9
5 myopathy, centronuclear, 1 11.9
6 renal tubular acidosis, distal, autosomal dominant 11.8
7 hypocalcemia, autosomal dominant 1 11.7
8 early-onset, autosomal dominant alzheimer disease 11.7
9 alzheimer disease 2 11.7
10 alcohol dependence 11.6
11 dermatitis, atopic 11.6
12 alzheimer disease 3 11.6
13 adenocarcinoma 11.5
14 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.5
15 alzheimer disease 6 11.5
16 polycystic liver disease 11.5
17 acute disseminated encephalomyelitis 11.4
18 frontotemporal dementia 11.4
19 alcohol use disorder 11.3
20 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.3
21 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.3
22 rickets 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 hyper ige syndrome 11.3
30 churg-strauss syndrome 11.3
31 esophagitis, eosinophilic, 1 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 11.1
41 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.1
42 immunodeficiency 31a 11.1
43 brachyolmia 11.1
44 spinal muscular atrophy 11.1
45 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.1
46 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.1
47 alzheimer disease mitochondrial 11.1
48 autosomal dominant spastic ataxia 11.1
49 autosomal dominant proximal renal tubular acidosis 11.1
50 anemia, congenital dyserythropoietic, type iii 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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 short neck 31 HP:0000470
3 intellectual disability 31 HP:0001249
4 brachydactyly 31 HP:0001156
5 platyspondyly 31 HP:0000926
6 short toe 31 HP:0001831
7 rhizomelia 31 HP:0008905
8 hypodontia 31 HP:0000668
9 short finger 31 HP:0009381
10 hypoplastic ilia 31 HP:0000946
11 small epiphyses 31 HP:0010585
12 flared metaphysis 31 HP:0003015
13 j-shaped sella turcica 31 HP:0002680
14 delayed ossification of carpal bones 31 HP:0001216
15 cervical cord compression 31 HP:0002341
16 cervical subluxation 31 HP:0003308

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Skeletal Feet:
brachydactyly

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 Hands:
brachydactyly
delayed carpal bone age

Skeletal Spine:
platyspondyly
cervical subluxation

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

Anatomical Context for Anauxetic Dysplasia 1

MalaCards organs/tissues related to Anauxetic Dysplasia 1:

40
Bone, Heart, Lung, Thyroid, 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. 61 56 6
16252239 2005
2
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. 61 56 6
11370632 2001
3
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. 56 6
8723091 1996
4
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders 61 6
22420014 2012
5
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 61 6
17701897 2007
6
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. 61
31250547 2019
7
Anauxetic dysplasia: A rare clinical entity. 61
30102486 2018
8
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. 61
28067412 2017
9
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. 61
27380734 2016
10
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? 61
25596067 2015
11
Axial correction of the lower limb deformities in a girl with anauxetic dysplasia. 61
22528854 2014
12
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. 61
21455487 2011
13
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 61
21396580 2011

Variations for Anauxetic Dysplasia 1

ClinVar genetic disease variations for Anauxetic Dysplasia 1:

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RMRP RMRP, 10-BP DEL, NT254deletion Pathogenic 14229
2 RMRP NR_003051.3(RMRP):n.91_92delinsGCindel Pathogenic 14227 rs387906533 9:35657924-35657925 9:35657927-35657928
3 RMRP RMRP, 254C-GSNV Pathogenic 14228
4 RMRP NR_003051.3(RMRP):n.71A>GSNV Pathogenic 14208 rs199476103 9:35657945-35657945 9:35657948-35657948
5 RMRP RMRP, 14-BP INS, NT111insertion Pathogenic 14225
6 RMRP RMRP, 14G-ASNV Pathogenic 14226
7 RMRP NR_003051.3(RMRP):n.219A>GSNV Pathogenic 580378 rs936059863 9:35657797-35657797 9:35657800-35657800
8 RMRP NR_003051.3(RMRP):n.196C>TSNV Pathogenic/Likely pathogenic 633393 rs948931144 9:35657820-35657820 9:35657823-35657823
9 RMRP NR_003051.3(RMRP):n.147G>ASNV Pathogenic/Likely pathogenic 379208 rs753874439 9:35657869-35657869 9:35657872-35657872
10 RMRP NR_003051.3(RMRP):n.64C>TSNV Pathogenic/Likely pathogenic 189086 rs786204684 9:35657952-35657952 9:35657955-35657955
11 RMRP NR_003051.3(RMRP):n.-24_-18dupduplication Pathogenic/Likely pathogenic 553917 rs1554651543 9:35658032-35658033 9:35658035-35658036
12 RMRP NR_003051.3(RMRP):n.-15_-8dupduplication Likely pathogenic 664682 9:35658022-35658023 9:35658025-35658026
13 RMRP NR_003051.3(RMRP):n.-25_-3dupduplication Likely pathogenic 551723 rs1554651413 9:35658017-35658018 9:35658020-35658021
14 RMRP NR_003051.3(RMRP):n.-20_-2dupduplication Likely pathogenic 554533 rs1554651404 9:35658016-35658017 9:35658019-35658020
15 RMRP NR_003051.3(RMRP):n.-24_-12dupduplication Likely pathogenic 551654 rs781730798 9:35658026-35658027 9:35658029-35658030
16 RMRP NR_003051.3(RMRP):n.-23_-10dupduplication Likely pathogenic 555707 rs1554651489 9:35658024-35658025 9:35658027-35658028
17 RMRP NR_003051.3(RMRP):n.243A>GSNV Likely pathogenic 487451 rs551450545 9:35657773-35657773 9:35657776-35657776
18 RMRP NR_003051.3(RMRP):n.-22_-13dupduplication Likely pathogenic 14210 rs1554651507 9:35658027-35658028 9:35658030-35658031
19 RMRP NR_003051.3(RMRP):n.-24_-10dupduplication Likely pathogenic 14211 rs727502776 9:35658024-35658025 9:35658027-35658028
20 RMRP NR_003051.3(RMRP):n.-25_-13dupduplication Likely pathogenic 465207 rs1554651508 9:35658027-35658028 9:35658030-35658031
21 RMRP NR_003051.3(RMRP):n.97_98dupduplication Likely pathogenic 465213 rs1340624774 9:35657917-35657918 9:35657920-35657921
22 RMRP NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCTduplication Likely pathogenic 465205 rs751921616 9:35658023-35658024 9:35658026-35658027
23 RMRP NR_003051.3(RMRP):n.-5delins17indel Likely pathogenic 465211 9:35658020-35658020 9:35658023-35658023
24 RMRP NR_003051.3(RMRP):n.-13_-6dupduplication Likely pathogenic 633394 rs1563907946 9:35658020-35658021 9:35658023-35658024
25 RMRP NR_003051.3(RMRP):n.-33_3dupduplication Likely pathogenic 580379 rs1563907686 9:35658012-35658013 9:35658015-35658016
26 RMRP NR_003051.3(RMRP):n.-22_-1dupduplication Likely pathogenic 641782 9:35658015-35658016 9:35658018-35658019
27 RMRP NR_003051.3(RMRP):n.-30_-7dupduplication Likely pathogenic 663295 9:35658021-35658022 9:35658024-35658025
28 RMRP NR_003051.3(RMRP):n.-20_2dupduplication Likely pathogenic 660541 9:35658013-35658014 9:35658016-35658017
29 RMRP NR_003051.3(RMRP):n.-22_-14dupduplication Likely pathogenic 647397 9:35658028-35658029 9:35658031-35658032
30 RMRP NR_003051.3(RMRP):n.-24_-17dupduplication Likely pathogenic 658771 9:35658031-35658032 9:35658034-35658035
31 RMRP NR_003051.3(RMRP):n.146C>TSNV Conflicting interpretations of pathogenicity 383542 rs757576534 9:35657870-35657870 9:35657873-35657873
32 RMRP NR_003051.3(RMRP):n.-7_1dupduplication Conflicting interpretations of pathogenicity 487440 rs752934195 9:35658014-35658015 9:35658017-35658018
33 RMRP NR_003051.3(RMRP):n.5C>TSNV Conflicting interpretations of pathogenicity 552477 rs772443941 9:35658011-35658011 9:35658014-35658014
34 RMRP NR_003051.3(RMRP):n.-21_-19dupshort repeat Uncertain significance 550929 rs1029136594 9:35658033-35658034 9:35658036-35658037
35 RMRP NR_003051.3(RMRP):n.-54T>ASNV Uncertain significance 550381 rs181777676 9:35658069-35658069 9:35658072-35658072
36 RMRP NR_003051.3(RMRP):n.238_241delshort repeat Uncertain significance 558471 rs1554651108 9:35657775-35657778 9:35657778-35657781
37 RMRP NR_003051.3(RMRP):n.121_123dupduplication Uncertain significance 550782 rs1240755048 9:35657892-35657893 9:35657895-35657896
38 RMRP NR_003051.3(RMRP):n.7T>GSNV Uncertain significance 533767 rs587781140 9:35658009-35658009 9:35658012-35658012
39 RMRP NR_003051.3(RMRP):n.111G>ASNV Uncertain significance 533759 rs1031995271 9:35657905-35657905 9:35657908-35657908
40 RMRP NR_003051.3(RMRP):n.26A>GSNV Uncertain significance 533764 rs1554651331 9:35657990-35657990 9:35657993-35657993
41 RMRP NR_003051.3(RMRP):n.1G>ASNV Uncertain significance 533765 rs773520232 9:35658015-35658015 9:35658018-35658018
42 RMRP NR_003051.3(RMRP):n.159A>GSNV Uncertain significance 533766 rs535595484 9:35657857-35657857 9:35657860-35657860
43 RMRP NR_003051.3(RMRP):n.145C>TSNV Uncertain significance 533762 rs759632477 9:35657871-35657871 9:35657874-35657874
44 RMRP NR_003051.3(RMRP):n.36C>TSNV Uncertain significance 533761 rs549085067 9:35657980-35657980 9:35657983-35657983
45 RMRP NR_003051.3(RMRP):n.-26_1dupduplication Uncertain significance 533763 rs1554651385 9:35658014-35658015 9:35658017-35658018
46 RMRP NR_003051.3(RMRP):n.62G>ASNV Uncertain significance 533760 rs544069410 9:35657954-35657954 9:35657957-35657957
47 RMRP NR_003051.3(RMRP):n.36C>ASNV Uncertain significance 533768 rs549085067 9:35657980-35657980 9:35657983-35657983
48 RMRP NR_003051.3(RMRP):n.-2G>ASNV Uncertain significance 533770 rs958637129 9:35658017-35658017 9:35658020-35658020
49 RMRP NR_003051.3(RMRP):n.66A>GSNV Uncertain significance 465212 rs530883024 9:35657950-35657950 9:35657953-35657953
50 RMRP NR_003051.3(RMRP):n.264G>ASNV Uncertain significance 465209 rs578123788 9:35657752-35657752 9:35657755-35657755

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:

36
# 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 nucleolus GO:0005730 8.62 POP1 NEPRO

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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