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 76 53 6 15
Acromesomelic Dysplasia Hunter-Thompson Type 73
Acromesomelic Dwarfism 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0080049
UMLS 73 C2930970

Summaries for Acromesomelic Dysplasia

NIH Rare Diseases : 53 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

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 Cardiac conduction and Hippo signaling pathway. 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 : 76 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.17 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-3 9.17 NPR1 NPR2
3 Decreased substrate adherent cell growth GR00193-A-4 9.17 BMPR1B NPR1

MGI Mouse Phenotypes related to Acromesomelic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.62 NPR2 BMPR1B NPPC NPR1
2 limbs/digits/tail MP:0005371 9.56 BMPR1B GDF5 NPPC NPR2
3 mortality/aging MP:0010768 9.55 BMPR1B GDF5 NPPC NPR1 NPR2
4 reproductive system MP:0005389 9.35 BMPR1B GDF5 NPPC NPR1 NPR2
5 skeleton MP:0005390 8.92 BMPR1B GDF5 NPPC NPR2

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:

41
Bone, Kidney

Publications for Acromesomelic Dysplasia

Articles related to Acromesomelic Dysplasia:

(show all 35)
# Title Authors Year
1
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. ( 29322508 )
2018
2
Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. ( 29503224 )
2018
3
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
4
Genetics of human isolated acromesomelic dysplasia. ( 26926249 )
2016
5
Novel Homozygous Sequence Variants in the GDF5 Gene Underlie Acromesomelic Dysplasia type-Grebe (AMDG) in Consanguineous Families. ( 27577507 )
2016
6
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. ( 27994189 )
2016
7
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. ( 26567084 )
2015
8
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. ( 26349192 )
2015
9
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. ( 26275437 )
2015
10
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. ( 25959430 )
2015
11
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. ( 26105076 )
2015
12
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). ( 25319082 )
2014
13
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. ( 24249999 )
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
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
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
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. ( 22691581 )
2012
18
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. ( 18945719 )
2009
19
Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome. ( 19449465 )
2009
20
Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia. ( 19209615 )
2008
21
Acromesomelic dysplasia with bronchiectasis. ( 15832960 )
2005
22
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. ( 15146390 )
2004
23
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. ( 12900894 )
2003
24
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. ( 10633136 )
2000
25
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping. ( 10845568 )
2000
26
Acromesomelic dysplasia associated with mild lumbar spine stenosis. ( 9933391 )
1999
27
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. ( 9634515 )
1998
28
Ocular findings in acromesomelic dysplasia. ( 7977608 )
1994
29
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. ( 8281387 )
1993
30
Acromesomelic dysplasia of the Maroteaux type. ( 2131316 )
1990
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
Report of a case: acromesomelic dysplasia: radiologic, clinical, and pathological study. ( 2801778 )
1989
34
A boy with acromesomelic dysplasia. Growth course and growth hormone release. ( 3910617 )
1985
35
Acromesomelic dysplasia. ( 7433666 )
1980

Variations for Acromesomelic Dysplasia

ClinVar genetic disease variations for Acromesomelic Dysplasia:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh38 Chromosome 20, 35434398: 35434398
2 GDF5 NM_000557.4(GDF5): c.1017A= (p.Lys339=) single nucleotide variant Benign rs224330 GRCh37 Chromosome 20, 34022196: 34022196
3 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh38 Chromosome 20, 35434589: 35434589
4 GDF5 NM_000557.4(GDF5): c.826G= (p.Ala276=) single nucleotide variant Benign rs224331 GRCh37 Chromosome 20, 34022387: 34022387
5 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh38 Chromosome 20, 35437976: 35437976
6 GDF5 NM_000557.4(GDF5): c.-48C= single nucleotide variant Benign rs143384 GRCh37 Chromosome 20, 34025756: 34025756
7 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh37 Chromosome 20, 34022561: 34022561
8 GDF5 NM_000557.4(GDF5): c.652A> C (p.Arg218=) single nucleotide variant Benign/Likely benign rs116467702 GRCh38 Chromosome 20, 35434763: 35434763
9 NPR2 NM_003995.3(NPR2): c.3087A> C (p.Gly1029=) single nucleotide variant Uncertain significance rs138254005 GRCh37 Chromosome 9, 35809385: 35809385
10 NPR2 NM_003995.3(NPR2): c.3087A> C (p.Gly1029=) single nucleotide variant Uncertain significance rs138254005 GRCh38 Chromosome 9, 35809388: 35809388
11 NPR2 NM_003995.3(NPR2): c.98A> C (p.Glu33Ala) single nucleotide variant Uncertain significance rs886063909 GRCh37 Chromosome 9, 35792503: 35792503
12 NPR2 NM_003995.3(NPR2): c.98A> C (p.Glu33Ala) single nucleotide variant Uncertain significance rs886063909 GRCh38 Chromosome 9, 35792506: 35792506
13 NPR2 NM_003995.3(NPR2): c.1403T> G (p.Ile468Ser) single nucleotide variant Uncertain significance rs886063912 GRCh37 Chromosome 9, 35801118: 35801118
14 NPR2 NM_003995.3(NPR2): c.1403T> G (p.Ile468Ser) single nucleotide variant Uncertain significance rs886063912 GRCh38 Chromosome 9, 35801121: 35801121
15 NPR2 NM_003995.3(NPR2): c.2712+11_2712+19delGGGCCGCTG deletion Benign rs58759471 GRCh38 Chromosome 9, 35807409: 35807417
16 NPR2 NM_003995.3(NPR2): c.2712+11_2712+19delGGGCCGCTG deletion Benign rs58759471 GRCh37 Chromosome 9, 35807406: 35807414
17 NPR2 NM_003995.3(NPR2): c.2833C> T (p.Arg945Cys) single nucleotide variant Uncertain significance rs781398693 GRCh38 Chromosome 9, 35808629: 35808629
18 NPR2 NM_003995.3(NPR2): c.2833C> T (p.Arg945Cys) single nucleotide variant Uncertain significance rs781398693 GRCh37 Chromosome 9, 35808626: 35808626
19 NPR2 NM_003995.3(NPR2): c.312T> C (p.Pro104=) single nucleotide variant Uncertain significance rs886063910 GRCh37 Chromosome 9, 35792717: 35792717
20 NPR2 NM_003995.3(NPR2): c.18T> C (p.Leu6=) single nucleotide variant Benign rs2228580 GRCh37 Chromosome 9, 35792423: 35792423
21 NPR2 NM_003995.3(NPR2): c.18T> C (p.Leu6=) single nucleotide variant Benign rs2228580 GRCh38 Chromosome 9, 35792426: 35792426
22 NPR2 NM_003995.3(NPR2): c.312T> C (p.Pro104=) single nucleotide variant Uncertain significance rs886063910 GRCh38 Chromosome 9, 35792720: 35792720
23 NPR2 NM_003995.3(NPR2): c.1572C> T (p.Tyr524=) single nucleotide variant Uncertain significance rs150393424 GRCh37 Chromosome 9, 35801937: 35801937
24 NPR2 NM_003995.3(NPR2): c.1572C> T (p.Tyr524=) single nucleotide variant Uncertain significance rs150393424 GRCh38 Chromosome 9, 35801940: 35801940
25 NPR2 NM_003995.3(NPR2): c.1794C> T (p.Tyr598=) single nucleotide variant Benign rs5812 GRCh37 Chromosome 9, 35802583: 35802583
26 NPR2 NM_003995.3(NPR2): c.1794C> T (p.Tyr598=) single nucleotide variant Benign rs5812 GRCh38 Chromosome 9, 35802586: 35802586
27 NPR2 NM_003995.3(NPR2): c.2337T> C (p.Phe779=) single nucleotide variant Uncertain significance rs115369552 GRCh37 Chromosome 9, 35806195: 35806195
28 NPR2 NM_003995.3(NPR2): c.2337T> C (p.Phe779=) single nucleotide variant Uncertain significance rs115369552 GRCh38 Chromosome 9, 35806198: 35806198
29 NPR2 NM_003995.3(NPR2): c.725G> A (p.Arg242Lys) single nucleotide variant Uncertain significance rs774099913 GRCh38 Chromosome 9, 35793955: 35793955
30 NPR2 NM_003995.3(NPR2): c.336C> G (p.Ala112=) single nucleotide variant Uncertain significance rs533386555 GRCh37 Chromosome 9, 35792741: 35792741
31 NPR2 NM_003995.3(NPR2): c.336C> G (p.Ala112=) single nucleotide variant Uncertain significance rs533386555 GRCh38 Chromosome 9, 35792744: 35792744
32 NPR2 NM_003995.3(NPR2): c.725G> A (p.Arg242Lys) single nucleotide variant Uncertain significance rs774099913 GRCh37 Chromosome 9, 35793952: 35793952
33 NPR2 NM_003995.3(NPR2): c.873+13C> A single nucleotide variant Uncertain significance rs61758520 GRCh37 Chromosome 9, 35794113: 35794113
34 NPR2 NM_003995.3(NPR2): c.873+13C> A single nucleotide variant Uncertain significance rs61758520 GRCh38 Chromosome 9, 35794116: 35794116
35 NPR2 NM_003995.3(NPR2): c.2261G> A (p.Arg754Gln) single nucleotide variant Uncertain significance rs763488261 GRCh37 Chromosome 9, 35806119: 35806119
36 NPR2 NM_003995.3(NPR2): c.2261G> A (p.Arg754Gln) single nucleotide variant Uncertain significance rs763488261 GRCh38 Chromosome 9, 35806122: 35806122
37 NPR2 NM_003995.3(NPR2): c.649A> T (p.Ile217Phe) single nucleotide variant Uncertain significance rs191155989 GRCh37 Chromosome 9, 35793054: 35793054
38 NPR2 NM_003995.3(NPR2): c.649A> T (p.Ile217Phe) single nucleotide variant Uncertain significance rs191155989 GRCh38 Chromosome 9, 35793057: 35793057
39 NPR2 NM_003995.3(NPR2): c.853G> A (p.Ala285Thr) single nucleotide variant Uncertain significance rs886063911 GRCh37 Chromosome 9, 35794080: 35794080
40 NPR2 NM_003995.3(NPR2): c.853G> A (p.Ala285Thr) single nucleotide variant Uncertain significance rs886063911 GRCh38 Chromosome 9, 35794083: 35794083
41 NPR2 NM_003995.3(NPR2): c.1644C> T (p.Val548=) single nucleotide variant Uncertain significance rs772510686 GRCh37 Chromosome 9, 35802214: 35802214
42 NPR2 NM_003995.3(NPR2): c.1644C> T (p.Val548=) single nucleotide variant Uncertain significance rs772510686 GRCh38 Chromosome 9, 35802217: 35802217
43 NPR2 NM_003995.3(NPR2): c.2047+11C> T single nucleotide variant Uncertain significance rs200583592 GRCh37 Chromosome 9, 35805678: 35805678
44 NPR2 NM_003995.3(NPR2): c.2047+11C> T single nucleotide variant Uncertain significance rs200583592 GRCh38 Chromosome 9, 35805681: 35805681
45 NPR2 NM_003995.3(NPR2): c.2643+10A> G single nucleotide variant Uncertain significance rs200486126 GRCh38 Chromosome 9, 35807156: 35807156
46 NPR2 NM_003995.3(NPR2): c.2643+10A> G single nucleotide variant Uncertain significance rs200486126 GRCh37 Chromosome 9, 35807153: 35807153
47 GDF5 NM_000557.4(GDF5): c.1104C> T (p.Thr368=) single nucleotide variant Uncertain significance rs748907807 GRCh37 Chromosome 20, 34022109: 34022109
48 GDF5 NM_000557.4(GDF5): c.1104C> T (p.Thr368=) single nucleotide variant Uncertain significance rs748907807 GRCh38 Chromosome 20, 35434311: 35434311
49 GDF5 NM_000557.4(GDF5): c.-135G> A single nucleotide variant Likely benign rs73094730 GRCh38 Chromosome 20, 35438063: 35438063
50 GDF5 NM_000557.4(GDF5): c.-135G> A single nucleotide variant Likely benign rs73094730 GRCh37 Chromosome 20, 34025843: 34025843

Expression for Acromesomelic Dysplasia

Search GEO for disease gene expression data for Acromesomelic Dysplasia.

Pathways for Acromesomelic Dysplasia

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 guanylate cyclase complex, soluble GO:0008074 8.62 NPR1 NPR2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.76 BMPR1B NPR1 NPR2
2 BMP signaling pathway GO:0030509 9.58 BMPR1B GDF5
3 ossification GO:0001503 9.57 NPPC NPR2
4 cartilage development GO:0051216 9.56 BMPR1B GDF5
5 regulation of blood pressure GO:0008217 9.55 NPR1 NPR2
6 positive regulation of osteoblast differentiation GO:0045669 9.54 BMPR1B NPPC
7 chondrocyte differentiation GO:0002062 9.52 BMPR1B GDF5
8 regulation of multicellular organism growth GO:0040014 9.51 GDF5 NPPC
9 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.49 BMPR1B GDF5
10 positive regulation of chondrocyte differentiation GO:0032332 9.48 BMPR1B GDF5
11 cyclic nucleotide biosynthetic process GO:0009190 9.46 NPR1 NPR2
12 regulation of blood vessel size GO:0050880 9.43 NPPC NPR1
13 positive regulation of cGMP biosynthetic process GO:0030828 9.4 NPPC NPR1
14 reproductive process GO:0022414 9.37 NPPC NPR2
15 regulation of cardiac conduction GO:1903779 9.33 NPPC NPR1 NPR2
16 negative regulation of meiotic cell cycle GO:0051447 9.32 NPPC NPR2
17 negative regulation of oocyte maturation GO:1900194 9.26 NPPC NPR2
18 cGMP biosynthetic process GO:0006182 9.13 NPPC NPR1 NPR2
19 receptor guanylyl cyclase signaling pathway GO:0007168 8.8 NPPC NPR1 NPR2

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.58 BMPR1B NPR1 NPR2
2 lyase activity GO:0016829 9.43 NPR1 NPR2
3 peptide hormone binding GO:0017046 9.37 NPR1 NPR2
4 phosphorus-oxygen lyase activity GO:0016849 9.32 NPR1 NPR2
5 adenylate cyclase activity GO:0004016 9.26 NPR1 NPR2
6 guanylate cyclase activity GO:0004383 9.16 NPR1 NPR2
7 hormone binding GO:0042562 8.96 NPR1 NPR2
8 natriuretic peptide receptor activity GO:0016941 8.62 NPR1 NPR2

Sources for Acromesomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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