MCID: ACR016
MIFTS: 33

Acromesomelic Dysplasia

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Acromesomelic Dysplasia

MalaCards integrated aliases for Acromesomelic Dysplasia:

Name: Acromesomelic Dysplasia 12 72 49 14
Acromesomelic Dysplasia Hunter-Thompson Type 69
Acromesomelic Dwarfism 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0080049
UMLS 69 C2930970

Summaries for Acromesomelic Dysplasia

NIH Rare Diseases : 49 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 recessivetrait.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 typeAcromesomelic dysplasia, Hunter-Thompson typeAcromesomelic dysplasia, Grebe type Last updated: 6/28/2011

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 is TGF-beta signaling pathway (KEGG). Affiliated tissues include bone and kidney, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

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

Wikipedia : 72 Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development,... more...

Related Diseases for Acromesomelic Dysplasia

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.8 MAPK1 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-3 9.8 NPR1 FGFR3 MAPK1 NPR2
3 Decreased substrate adherent cell growth GR00193-A-4 9.8 MAPK1 NPR1 BMPR1B
4 Increased transferrin (TF) endocytosis GR00363-A 9.4 BMPR1B GBA HLA-DMB MAPK1 NPR1 NPR2

MGI Mouse Phenotypes related to Acromesomelic Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 BMPR1B GBA GHR GUCA2A MAPK1 NPPC
2 limbs/digits/tail MP:0005371 9.7 GHR NPPC NPR2 NPR3 BMPR1B FGFR3
3 reproductive system MP:0005389 9.65 BMPR1B FGFR3 GDF5 GHR MAPK1 NPPC
4 skeleton MP:0005390 9.28 BMPR1B FGFR3 GBA GDF5 GHR MAPK1

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:

38
Bone, Kidney

Publications for Acromesomelic Dysplasia

Articles related to Acromesomelic Dysplasia:

(show all 34)
# Title Authors Year
1
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. ( 29322508 )
2018
2
New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type. ( 28736064 )
2017
3
Novel Homozygous Sequence Variants in the GDF5 Gene Underlie Acromesomelic Dysplasia type-Grebe (AMDG) in Consanguineous Families. ( 27577507 )
2016
4
Genetics of human isolated acromesomelic dysplasia. ( 26926249 )
2016
5
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. ( 27994189 )
2016
6
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. ( 26349192 )
2015
7
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. ( 25959430 )
2015
8
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. ( 26567084 )
2015
9
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. ( 26105076 )
2015
10
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. ( 26275437 )
2015
11
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). ( 25319082 )
2014
12
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. ( 24249999 )
2013
13
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. ( 23065701 )
2013
14
Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome? ( 23610868 )
2013
15
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. ( 22691581 )
2012
16
Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy. ( 22526432 )
2012
17
Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome. ( 19449465 )
2009
18
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. ( 18945719 )
2009
19
Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia. ( 19209615 )
2008
20
Acromesomelic dysplasia with bronchiectasis. ( 15832960 )
2005
21
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. ( 15146390 )
2004
22
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. ( 12900894 )
2003
23
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. ( 10633136 )
2000
24
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping. ( 10845568 )
2000
25
Acromesomelic dysplasia associated with mild lumbar spine stenosis. ( 9933391 )
1999
26
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. ( 9634515 )
1998
27
Ocular findings in acromesomelic dysplasia. ( 7977608 )
1994
28
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. ( 8281387 )
1993
29
Acromesomelic dysplasia of the Maroteaux type. ( 2131316 )
1990
30
Report of a case: acromesomelic dysplasia: radiologic, clinical, and pathological study. ( 2801778 )
1989
31
Acromesomelic dysplasia in a father and son: autosomal dominant inheritance. ( 2515739 )
1989
32
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. ( 2703235 )
1989
33
A boy with acromesomelic dysplasia. Growth course and growth hormone release. ( 3910617 )
1985
34
Acromesomelic dysplasia. ( 7433666 )
1980

Variations for Acromesomelic Dysplasia

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 10.72 BMPR1B GDF5 MAPK1

GO Terms for Acromesomelic Dysplasia

Cellular components related to Acromesomelic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.7 BMPR1B FGFR3 GHR NPR1 NPR2 NPR3
2 extracellular region GO:0005576 9.28 FGFR3 GCA GDF5 GHR GUCA2A MAPK1
3 guanylate cyclase complex, soluble GO:0008074 8.96 NPR1 NPR2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 BMPR1B FGFR3 MAPK1 NPR1 NPR2
2 skeletal system development GO:0001501 9.73 BMPR1B FGFR3 NPR3 SHOX
3 regulation of blood pressure GO:0008217 9.67 NPR1 NPR2 NPR3
4 regulation of cardiac conduction GO:1903779 9.63 NPPC NPR1 NPR2
5 positive regulation of chondrocyte differentiation GO:0032332 9.58 BMPR1B GDF5
6 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 BMPR1B GDF5
7 chondrocyte differentiation GO:0002062 9.58 BMPR1B FGFR3 GDF5
8 cyclic nucleotide biosynthetic process GO:0009190 9.57 NPR1 NPR2
9 regulation of blood vessel size GO:0050880 9.56 NPPC NPR1
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.55 GHR MAPK1
11 positive regulation of urine volume GO:0035810 9.54 NPR1 NPR3
12 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.52 MAPK1 NPR2
13 reproductive process GO:0022414 9.51 NPPC NPR2
14 endochondral bone growth GO:0003416 9.48 FGFR3 OSTN
15 regulation of multicellular organism growth GO:0040014 9.43 GDF5 GHR NPPC
16 negative regulation of meiotic cell cycle GO:0051447 9.37 NPPC NPR2
17 cGMP biosynthetic process GO:0006182 9.33 NPPC NPR1 NPR2
18 negative regulation of oocyte maturation GO:1900194 9.32 NPPC NPR2
19 positive regulation of cGMP biosynthetic process GO:0030828 9.13 NPPC NPR1 OSTN
20 receptor guanylyl cyclase signaling pathway GO:0007168 8.8 NPPC NPR1 NPR2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.97 FGFR3 GDF5 GHR MAPK1 NPR2 STOM
2 protein kinase activity GO:0004672 9.72 BMPR1B FGFR3 MAPK1 NPR1 NPR2
3 receptor binding GO:0005102 9.65 GBA GDF5 NPPC OSTN STOML2
4 hormone activity GO:0005179 9.58 GUCA2A NPPC OSTN
5 phosphorus-oxygen lyase activity GO:0016849 9.48 NPR1 NPR2
6 G-protein coupled peptide receptor activity GO:0008528 9.46 NPR1 NPR3
7 adenylate cyclase activity GO:0004016 9.43 NPR1 NPR2
8 guanylate cyclase activity GO:0004383 9.37 NPR1 NPR2
9 hormone binding GO:0042562 9.33 NPR1 NPR2 NPR3
10 peptide hormone binding GO:0017046 9.26 GHR NPR1 NPR2 NPR3
11 natriuretic peptide receptor activity GO:0016941 8.8 NPR1 NPR2 NPR3

Sources for Acromesomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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