MCID: ACR016
MIFTS: 35

Acromesomelic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acromesomelic Dysplasia

MalaCards integrated aliases for Acromesomelic Dysplasia:

Name: Acromesomelic Dysplasia 12 73 20 58 6 15
Acromesomelic Dysplasia Hunter-Thompson Type 70
Acromesomelic Dwarfism 20

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080049
MESH via Orphanet 45 C535658
UMLS via Orphanet 71 C0265278
Orphanet 58 ORPHA93437
UMLS 70 C2930970

Summaries for Acromesomelic Dysplasia

GARD : 20 Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type

MalaCards based summary : Acromesomelic Dysplasia, also known as acromesomelic dysplasia hunter-thompson type, is related to acromesomelic dysplasia, hunter-thompson type and chondrodysplasia, grebe type. An important gene associated with Acromesomelic Dysplasia is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Visual Cycle in Retinal Rods. Affiliated tissues include bone and kidney, and related phenotypes are Decreased cell migration and Decreased human cytomegalovirus (HCMV) strain AD169 replication

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mesomelia and acromelia, which results in short limb dwarfism.

Wikipedia : 73 Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development,... more...

Related Diseases for Acromesomelic Dysplasia

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia, hunter-thompson type 32.6 NPR2 LOC109461476 GDF5-AS1 GDF5 BMPR1B
2 chondrodysplasia, grebe type 32.1 NPR2 GDF5-AS1 GDF5 COL2A1 BMPR1B
3 du pan syndrome 31.5 GDF5-AS1 GDF5 COL10A1 BMPR1B
4 acromesomelic dysplasia, maroteaux type 31.4 SPAG8 SHOX NPR3 NPR2 NPPC GDF5
5 epiphyseal chondrodysplasia, miura type 30.4 SPAG8 NPR2 NPPC
6 brachydactyly, type c 30.2 GDF5-AS1 GDF5 BMPR1B
7 achondrogenesis, type ii 29.3 GDF5-AS1 GDF5 COL2A1 COL10A1
8 brachydactyly 29.2 NPR2 LOC109461476 GDF5-AS1 GDF5 FGFR3 COL2A1
9 osteochondrodysplasia 29.1 SHOX NPR2 NPPC GDF5 FGFR3 COL2A1
10 acromesomelic dysplasia, demirhan type 11.7
11 acromesomelic dysplasia campailla martinelli type 11.3
12 dwarfism 10.4
13 klippel-feil syndrome 1 10.3 GDF5 BMPR1B
14 sugarman brachydactyly 10.3 GDF5 BMPR1B
15 epilepsy, familial focal, with variable foci 2 10.3 SPAG8 NPR2
16 symphalangism, proximal, 1b 10.3 GDF5-AS1 GDF5
17 synostoses, tarsal, carpal, and digital 10.3 GDF5 BMPR1B
18 paraphimosis 10.3 NPR2 NPPC
19 brachydactyly, type a1, b 10.3 GDF5 BMPR1B
20 brachydactyly, type a1, c 10.3 GDF5-AS1 GDF5
21 autosomal recessive disease 10.3
22 acrocapitofemoral dysplasia 10.2 NPR2 GDF5
23 proximal symphalangism 10.2 GDF5-AS1 GDF5 BMPR1B
24 brachydactyly, type a1 10.2 GDF5-AS1 GDF5 BMPR1B
25 multiple synostoses syndrome 2 10.2 LOC109461476 GDF5-AS1 GDF5
26 brachydactyly, type a2 10.2 GDF5-AS1 GDF5 BMPR1B
27 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.1 NPPC FGFR3
28 hydrocephalus 10.1
29 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.1 NPR2 NPPC FGFR3
30 thanatophoric dysplasia, type i 10.1 NPR2 NPPC FGFR3
31 osteochondroma 10.0 FGFR3 BMPR1B
32 chromosome 2q35 duplication syndrome 10.0 GDF5 FGFR3 BMPR1B
33 chondromyxoid fibroma 10.0 FGFR3 COL10A1
34 leri-weill dyschondrosteosis 10.0 SHOX NPR2 FGFR3
35 apnea, obstructive sleep 10.0
36 chiari malformation type i 10.0
37 pseudoachondroplasia 10.0
38 syringomyelia, noncommunicating isolated 10.0
39 chiari malformation type ii 10.0
40 hypomagnesemia 1, intestinal 10.0
41 alacrima, achalasia, and mental retardation syndrome 10.0
42 short stature with nonspecific skeletal abnormalities 10.0
43 tooth agenesis 10.0
44 sleep apnea 10.0
45 acrodysostosis 10.0
46 cystic kidney disease 10.0
47 syringomyelia 10.0
48 myopathy 10.0
49 infertility 10.0
50 nephrolithiasis 10.0

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia:



Diseases related to Acromesomelic Dysplasia

Symptoms & Phenotypes for Acromesomelic Dysplasia

GenomeRNAi Phenotypes related to Acromesomelic Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.46 FGFR3 NPR1 NPR2 PRKG2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.26 BMPR1B FGFR3 GUCY2F PRKG2
3 Decreased substrate adherent cell growth GR00193-A-3 8.92 FGFR3 NPR1 NPR2
4 Decreased substrate adherent cell growth GR00193-A-4 8.92 NPR1

MGI Mouse Phenotypes related to Acromesomelic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.76 BMPR1B COL10A1 COL2A1 FGFR3 NPPC NPR2
2 limbs/digits/tail MP:0005371 9.61 BMPR1B COL10A1 COL2A1 FGFR3 GDF5 NPPC
3 skeleton MP:0005390 9.28 BMPR1B COL10A1 COL2A1 FGFR3 GDF5 NPPC

Drugs & Therapeutics for Acromesomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Acromesomelic Dysplasia

Genetic Tests for Acromesomelic Dysplasia

Anatomical Context for Acromesomelic Dysplasia

MalaCards organs/tissues related to Acromesomelic Dysplasia:

40
Bone, Kidney

Publications for Acromesomelic Dysplasia

Articles related to Acromesomelic Dysplasia:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. 61
33288834 2020
2
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. 61
32720985 2020
3
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. 61
33106379 2020
4
A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan). 61
32506268 2020
5
An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs 61
31339259 2020
6
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. 61
32694885 2020
7
Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings. 61
33238275 2020
8
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. 61
30359775 2019
9
Acromesomelic dysplasia Maroteaux-type in patients from Vietnam. 61
31077548 2019
10
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux. 61
30016695 2018
11
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. 61
29581481 2018
12
Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. 61
29503224 2018
13
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. 61
29322508 2018
14
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. 61
30622824 2018
15
New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type. 61
28736064 2017
16
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families. 61
27577507 2017
17
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. 61
27994189 2016
18
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. 61
26275437 2016
19
Genetics of human isolated acromesomelic dysplasia. 61
26926249 2016
20
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. 61
26567084 2016
21
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population. 61
26870132 2015
22
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. 61
25959430 2015
23
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 61
26105076 2015
24
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. 61
25703509 2015
25
Accommodating difference in the prehistoric past: Revisiting the case of Romito 2 from a bioarchaeology of care perspective. 61
29539484 2015
26
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. 61
25387261 2015
27
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. 61
26349192 2015
28
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). 61
25319082 2014
29
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. 61
24471569 2014
30
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. 61
24259409 2014
31
Role of the natriuretic peptide system in normal growth and growth disorders. 61
25196103 2014
32
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. 61
24001744 2013
33
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. 61
24249999 2013
34
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. 61
23065701 2013
35
Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome? 61
23610868 2013
36
The privileged burial of the Pava Pieve (Siena, 8th Century AD). 61
22976205 2012
37
Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy. 61
22526432 2012
38
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. 61
22691581 2012
39
Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases. 61
21185863 2011
40
Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias. 61
20567091 2010
41
[Hormones and osteoporosis update. Effects of natriuretic peptides on endochondral bone growth]. 61
19567998 2009
42
Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome. 61
19449465 2009
43
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 61
18945719 2009
44
Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia. 61
19209615 2008
45
C-natriuretic peptide: an important regulator of cartilage. 61
17681481 2007
46
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. 61
17652215 2007
47
C-type natriuretic peptide in growth: a new paradigm. 61
16716628 2006
48
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. 61
16384845 2006
49
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 61
16291870 2006
50
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. 61
16222676 2005

Variations for Acromesomelic Dysplasia

ClinVar genetic disease variations for Acromesomelic Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-30C>A SNV Uncertain significance 338324 rs375024998 GRCh37: 20:34025738-34025738
GRCh38: 20:35437958-35437958
2 NPR2 NM_003995.3(NPR2):c.2712+11_2712+19del Deletion Benign 366792 rs58759471 GRCh37: 9:35807402-35807410
GRCh38: 9:35807405-35807413

Expression for Acromesomelic Dysplasia

Search GEO for disease gene expression data for Acromesomelic Dysplasia.

Pathways for Acromesomelic Dysplasia

Pathways related to Acromesomelic Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 PRKG2 NPR2 NPR1 NPPC
2 11.41 NPR2 NPR1 GUCY2F
3 11.13 PRKG2 NPR2 NPR1 GUCY2F
4 10.94 FGFR3 COL2A1 COL10A1

GO Terms for Acromesomelic Dysplasia

Biological processes related to Acromesomelic Dysplasia according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.88 PRKG2 NPR2 NPR1 GUCY2F FGFR3 BMPR1B
2 ossification GO:0001503 9.73 NPR2 NPPC COL2A1
3 cartilage development GO:0051216 9.7 GDF5 COL2A1 BMPR1B
4 regulation of blood pressure GO:0008217 9.69 NPR3 NPR2 NPR1
5 regulation of cardiac conduction GO:1903779 9.67 NPR2 NPR1 NPPC
6 chondrocyte differentiation GO:0002062 9.63 FGFR3 COL2A1 BMPR1B
7 skeletal system development GO:0001501 9.63 SHOX NPR3 FGFR3 COL2A1 COL10A1 BMPR1B
8 negative regulation of smooth muscle cell proliferation GO:0048662 9.61 NPR3 NPR1
9 endochondral ossification GO:0001958 9.61 FGFR3 COL2A1
10 regulation of multicellular organism growth GO:0040014 9.6 NPPC GDF5
11 limb morphogenesis GO:0035108 9.59 COL2A1 BMPR1B
12 cartilage condensation GO:0001502 9.58 COL2A1 BMPR1B
13 positive regulation of chondrocyte differentiation GO:0032332 9.58 GDF5 BMPR1B
14 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.57 GDF5 BMPR1B
15 cGMP-mediated signaling GO:0019934 9.56 NPR2 NPR1 NPPC GUCY2F
16 positive regulation of urine volume GO:0035810 9.55 NPR3 NPR1
17 reproductive process GO:0022414 9.54 NPR2 NPPC
18 cyclic nucleotide biosynthetic process GO:0009190 9.54 NPR2 NPR1 GUCY2F
19 positive regulation of cGMP-mediated signaling GO:0010753 9.5 NPR2 NPR1 NPPC
20 negative regulation of meiotic cell cycle GO:0051447 9.48 NPR2 NPPC
21 negative regulation of oocyte maturation GO:1900194 9.43 NPR2 NPPC
22 cGMP biosynthetic process GO:0006182 9.26 NPR2 NPR1 NPPC GUCY2F
23 receptor guanylyl cyclase signaling pathway GO:0007168 8.92 NPR2 NPR1 NPPC GUCY2F

Molecular functions related to Acromesomelic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.98 PRKG2 NPR3 NPR2 GUCY2F GDF5 FGFR3
2 ATP binding GO:0005524 9.95 PRKG2 NPR2 NPR1 GUCY2F FGFR3 BMPR1B
3 protein kinase activity GO:0004672 9.85 PRKG2 NPR2 NPR1 GUCY2F FGFR3 BMPR1B
4 lyase activity GO:0016829 9.63 NPR2 NPR1 GUCY2F
5 peptide hormone binding GO:0017046 9.58 NPR3 NPR2 NPR1
6 phosphorus-oxygen lyase activity GO:0016849 9.5 NPR2 NPR1 GUCY2F
7 hormone binding GO:0042562 9.43 NPR3 NPR2 NPR1
8 guanylate cyclase activity GO:0004383 9.33 NPR2 NPR1 GUCY2F
9 peptide receptor activity GO:0001653 9.13 NPR2 NPR1 GUCY2F
10 natriuretic peptide receptor activity GO:0016941 8.8 NPR3 NPR2 NPR1

Sources for Acromesomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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