AMDM
MCID: ACR011
MIFTS: 44

Acromesomelic Dysplasia, Maroteaux Type (AMDM)

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

Aliases & Classifications for Acromesomelic Dysplasia, Maroteaux Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Maroteaux Type:

Name: Acromesomelic Dysplasia, Maroteaux Type 57 12 58 72 36 29 13 54 6 44 15 70
Amdm 57 20 72
St. Helena Dysplasia 57 72
Acromesomelic Dysplasia Hunter-Thompson Type 70
Dysplasia, Acromesomelic, Maroteaux Type ) 39
Acromesomelic Dysplasia Maroteaux Type 20
Acromesomelic Dwarfism Maroteux Type 20

Characteristics:

Orphanet epidemiological data:

58
acromesomelic dysplasia, maroteaux type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
disproportionately short limbs often noted at birth
short limbs become more apparent during childhood


HPO:

31
acromesomelic dysplasia, maroteaux type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080050
OMIM® 57 602875
KEGG 36 H00470
MESH via Orphanet 45 C535661
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C1864356
Orphanet 58 ORPHA40
UMLS 70 C1864356 C2930970

Summaries for Acromesomelic Dysplasia, Maroteaux Type

OMIM® : 57 The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000). (602875) (Updated 20-May-2021)

MalaCards based summary : Acromesomelic Dysplasia, Maroteaux Type, also known as amdm, is related to acromesomelic dysplasia, hunter-thompson type and chondrodysplasia, grebe type. An important gene associated with Acromesomelic Dysplasia, Maroteaux Type is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone, and related phenotypes are frontal bossing and scoliosis

Disease Ontology : 12 An acromesomelic dysplasia that has material basis in mutation in NPR-B receptor which results in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 40 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.

KEGG : 36 Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected indivisials show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.

UniProtKB/Swiss-Prot : 72 Acromesomelic dysplasia, Maroteaux type: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth.

Related Diseases for Acromesomelic Dysplasia, Maroteaux Type

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



Diseases related to Acromesomelic Dysplasia, Maroteaux Type

Symptoms & Phenotypes for Acromesomelic Dysplasia, Maroteaux Type

Human phenotypes related to Acromesomelic Dysplasia, Maroteaux Type:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
4 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
5 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
6 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
7 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
8 beaking of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004568
9 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
10 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
11 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
12 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
13 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
14 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
15 vertebral wedging 58 31 frequent (33%) Frequent (79-30%) HP:0008422
16 disproportionate short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003498
17 acromesomelia 58 31 frequent (33%) Frequent (79-30%) HP:0003086
18 short nose 31 HP:0003196
19 abnormal form of the vertebral bodies 58 Frequent (79-30%)
20 short toe 31 HP:0001831
21 joint laxity 31 HP:0001388
22 broad finger 31 HP:0001500
23 short metacarpal 31 HP:0010049
24 hypoplasia of the radius 31 HP:0002984
25 long hallux 31 HP:0001847
26 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
27 short phalanx of finger 31 HP:0009803
28 radial bowing 31 HP:0002986
29 short metatarsal 31 HP:0010743
30 short nail 31 HP:0001799
31 broad metatarsal 31 HP:0001783
32 limited elbow extension 31 HP:0001377
33 flared metaphysis 31 HP:0003015
34 broad metacarpals 31 HP:0001230
35 lumbar hyperlordosis 31 HP:0002938
36 thoracolumbar kyphosis 31 HP:0005619
37 broad phalanx 31 HP:0006009
38 lower thoracic kyphosis 31 HP:0004633
39 redundant skin on fingers 31 HP:0007516
40 thoracolumbar interpediculate narrowness 31 HP:0008484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
short nose

Skeletal:
joint laxity

Skeletal Spine:
lower thoracic kyphosis
increased lumbar lordosis
oval vertebral bodies (infancy)
anterior beaking (childhood)
gibbus deformity
more
Skeletal Hands:
cone-shaped epiphyses
short, broad fingers
short, broad metacarpals (progressive shortening in first year)
short, broad phalanges (progressive shortening in first year)
broad middle and proximal phalanges

Skin Nails Hair Nails:
short nails

Growth Height:
short stature, disproportionate
final adult height 38-49 inches
small-normal birth length

Chest Ribs Sternum Clavicles And Scapulae:
superiorly curved clavicles

Head And Neck Face:
prominent forehead

Skeletal Limbs:
acromesomelia
limited elbow extension
bowed radius
short tubular bones
metaphyseal flaring of long bones
more
Growth Weight:
normal birth weight

Skeletal Feet:
large halluces
short toes
short, broad phalanges
short, broad metatarsals

Neurologic Central Nervous System:
normal intelligence

Head And Neck Head:
normal head circumference

Skin Nails Hair Skin:
loose, redundant skin on fingers

Clinical features from OMIM®:

602875 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acromesomelic Dysplasia, Maroteaux Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 FGFR3 NPPC NPR2 NPR3 PAPPA2 PCNP
2 limbs/digits/tail MP:0005371 9.1 FGFR3 GDF5 NPPC NPR2 NPR3 PAPPA2

Drugs & Therapeutics for Acromesomelic Dysplasia, Maroteaux Type

Search Clinical Trials , NIH Clinical Center for Acromesomelic Dysplasia, Maroteaux Type

Cochrane evidence based reviews: acromesomelic dysplasia, maroteaux type

Genetic Tests for Acromesomelic Dysplasia, Maroteaux Type

Genetic tests related to Acromesomelic Dysplasia, Maroteaux Type:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia, Maroteaux Type 29 NPR2

Anatomical Context for Acromesomelic Dysplasia, Maroteaux Type

MalaCards organs/tissues related to Acromesomelic Dysplasia, Maroteaux Type:

40
Bone

Publications for Acromesomelic Dysplasia, Maroteaux Type

Articles related to Acromesomelic Dysplasia, Maroteaux Type:

(show all 41)
# Title Authors PMID Year
1
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 61 6 57
15146390 2004
2
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. 61 54 6
16384845 2006
3
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 6
23065701 2013
4
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. 61 57
10633136 2000
5
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. 61 57
9634515 1998
6
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping. 57
10845568 2000
7
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. 57
8281387 1993
8
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 57
2703235 1989
9
Genetic disorders on the island of St Helena. 57
4049161 1985
10
Acromesomelic dysplasia. 57
7433666 1980
11
Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. 57
964999 1976
12
[Acromesomelic dwarfism]. 57
5000841 1971
13
C-type natriuretic peptide in growth: a new paradigm. 54 61
16716628 2006
14
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. 61
33288834 2020
15
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. 61
32720985 2020
16
A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan). 61
32506268 2020
17
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. 61
32694885 2020
18
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
19
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. 61
30359775 2019
20
Acromesomelic dysplasia Maroteaux-type in patients from Vietnam. 61
31077548 2019
21
House dust mite drives proinflammatory eicosanoid reprogramming and macrophage effector functions. 61
30554425 2019
22
Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. 61
29503224 2018
23
An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases. 61
29423467 2018
24
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. 61
30622824 2018
25
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
26
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. 61
26567084 2016
27
Near-Infrared Spectroscopy as a Novel Non-Invasive Tool to Assess Spiny Lobster Nutritional Condition. 61
27442242 2016
28
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. 61
25959430 2015
29
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. 61
25703509 2015
30
Anticancer drug nanomicelles formed by self-assembling amphiphilic dendrimer to combat cancer drug resistance. 61
25713374 2015
31
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. 61
25387261 2015
32
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. 61
26349192 2015
33
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). 61
25319082 2014
34
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. 61
24249999 2013
35
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. 61
22691581 2012
36
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 61
18945719 2009
37
C-type natriuretic peptide regulation of limb mesenchymal chondrogenesis is accompanied by altered N-cadherin and collagen type X-related functions. 61
18461555 2008
38
C-natriuretic peptide: an important regulator of cartilage. 61
17681481 2007
39
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. 54
17652215 2007
40
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 54
16291870 2006
41
Comparison of the effects of acute and subacute treatment of phenobarbital in different strains of mice. 61
2819695 1989

Variations for Acromesomelic Dysplasia, Maroteaux Type

ClinVar genetic disease variations for Acromesomelic Dysplasia, Maroteaux Type:

6 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPR2 NM_003995.3(NPR2):c.94C>A (p.Pro32Thr) SNV Pathogenic 17784 rs28931581 GRCh37: 9:35792499-35792499
GRCh38: 9:35792502-35792502
2 NPR2 NM_003995.3(NPR2):c.343T>G (p.Trp115Gly) SNV Pathogenic 17785 rs28931582 GRCh37: 9:35792748-35792748
GRCh38: 9:35792751-35792751
3 NPR2 NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) SNV Pathogenic 17786 rs28929479 GRCh37: 9:35792933-35792933
GRCh38: 9:35792936-35792936
4 NPR2 NM_003995.4(NPR2):c.1162C>T SNV Pathogenic 17787 rs121912739 GRCh37: 9:35800424-35800424
GRCh38: 9:35800427-35800427
5 NPR2 NM_003995.3(NPR2):c.1092del (p.Ile364fs) Deletion Pathogenic 208355 rs879255257 GRCh37: 9:35800122-35800122
GRCh38: 9:35800125-35800125
6 NPR2 NM_003995.3(NPR2):c.1758delC (p.Cys586Terfs) Deletion Pathogenic 375292 rs1057519334 GRCh37: 9:35802547-35802547
GRCh38: 9:35802550-35802550
7 NPR2 NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter) SNV Pathogenic 375290 rs1057519324 GRCh37: 9:35801150-35801150
GRCh38: 9:35801153-35801153
8 NPR2 NM_003995.3(NPR2):c.560T>A (p.Val187Asp) SNV Pathogenic 375293 rs1057519335 GRCh37: 9:35792965-35792965
GRCh38: 9:35792968-35792968
9 NPR2 NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg) SNV Pathogenic 375291 rs1057519333 GRCh37: 9:35806160-35806160
GRCh38: 9:35806163-35806163
10 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-505C>T SNV Pathogenic 375294 rs1057519336 GRCh37: 9:35808808-35808808
GRCh38: 9:35808811-35808811
11 NPR2 and overlap with 1 gene(s) GRCh37/hg19 9p13.3(chr9:35799615-35808850) copy number loss Pathogenic 976671 GRCh37: 9:35799615-35808850
GRCh38:
12 NPR2 NM_003995.4(NPR2):c.1887+2T>A SNV Pathogenic 873132 GRCh37: 9:35802802-35802802
GRCh38: 9:35802805-35802805
13 NPR2 NM_003995.4(NPR2):c.748del (p.Tyr250fs) Deletion Pathogenic 873146 GRCh37: 9:35793974-35793974
GRCh38: 9:35793977-35793977
14 NPR2 NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) SNV Pathogenic 873147 GRCh37: 9:35805922-35805922
GRCh38: 9:35805925-35805925
15 NPR2 NM_003995.4(NPR2):c.1215del (p.Gln406fs) Deletion Pathogenic 873150 GRCh37: 9:35800475-35800475
GRCh38: 9:35800478-35800478
16 NPR2 NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) SNV Pathogenic 870612 GRCh37: 9:35792419-35792419
GRCh38: 9:35792422-35792422
17 NPR2 , SPAG8 NM_003995.4(NPR2):c.2870G>A (p.Arg957His) SNV Likely pathogenic 873148 GRCh37: 9:35808663-35808663
GRCh38: 9:35808666-35808666
18 NPR2 NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro) SNV Likely pathogenic 972702 GRCh37: 9:35800074-35800074
GRCh38: 9:35800077-35800077
19 NPR2 NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) SNV Likely pathogenic 873128 rs751324720 GRCh37: 9:35802243-35802243
GRCh38: 9:35802246-35802246
20 NPR2 , SPAG8 NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) SNV Likely pathogenic 873127 rs1311857509 GRCh37: 9:35808513-35808513
GRCh38: 9:35808516-35808516
21 NPR2 NM_003995.3(NPR2):c.987+1G>C SNV Likely pathogenic 468349 rs1554672893 GRCh37: 9:35799729-35799729
GRCh38: 9:35799732-35799732
22 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-201T>A SNV Likely pathogenic 579260 rs1563993649 GRCh37: 9:35808504-35808504
GRCh38: 9:35808507-35808507
23 NPR2 NM_003995.3(NPR2):c.298G>A (p.Gly100Ser) SNV Likely pathogenic 694580 rs753644648 GRCh37: 9:35792703-35792703
GRCh38: 9:35792706-35792706
24 NPR2 NM_003995.3(NPR2):c.1313C>A (p.Pro438His) SNV Uncertain significance 583173 rs778410447 GRCh37: 9:35800800-35800800
GRCh38: 9:35800803-35800803
25 NPR2 NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) SNV Uncertain significance 193262 rs140014632 GRCh37: 9:35792469-35792469
GRCh38: 9:35792472-35792472
26 NPR2 NM_003995.3(NPR2):c.1815+2T>C SNV Uncertain significance 632043 rs1563988864 GRCh37: 9:35802606-35802606
GRCh38: 9:35802609-35802609
27 NPR2 NM_003995.3(NPR2):c.2260C>T (p.Arg754Trp) SNV Uncertain significance 639899 rs371968545 GRCh37: 9:35806118-35806118
GRCh38: 9:35806121-35806121
28 NPR2 NM_003995.3(NPR2):c.2281C>T (p.Leu761=) SNV Uncertain significance 665123 rs1481862376 GRCh37: 9:35806139-35806139
GRCh38: 9:35806142-35806142
29 NPR2 NM_003995.3(NPR2):c.649A>T (p.Ile217Phe) SNV Uncertain significance 366780 rs191155989 GRCh37: 9:35793054-35793054
GRCh38: 9:35793057-35793057
30 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-323G>A SNV Uncertain significance 366793 rs781398693 GRCh37: 9:35808626-35808626
GRCh38: 9:35808629-35808629
31 NPR2 NM_003995.3(NPR2):c.2337T>C (p.Phe779=) SNV Uncertain significance 366790 rs115369552 GRCh37: 9:35806195-35806195
GRCh38: 9:35806198-35806198
32 NPR2 NM_003995.3(NPR2):c.336C>G (p.Ala112=) SNV Uncertain significance 366779 rs533386555 GRCh37: 9:35792741-35792741
GRCh38: 9:35792744-35792744
33 NPR2 NM_003995.3(NPR2):c.853G>A (p.Ala285Thr) SNV Uncertain significance 366782 rs886063911 GRCh37: 9:35794080-35794080
GRCh38: 9:35794083-35794083
34 NPR2 NM_003995.3(NPR2):c.1572C>T (p.Tyr524=) SNV Uncertain significance 366785 rs150393424 GRCh37: 9:35801937-35801937
GRCh38: 9:35801940-35801940
35 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1372+16T>G SNV Uncertain significance 288222 rs138254005 GRCh37: 9:35809385-35809385
GRCh38: 9:35809388-35809388
36 NPR2 NM_003995.3(NPR2):c.98A>C (p.Glu33Ala) SNV Uncertain significance 366777 rs886063909 GRCh37: 9:35792503-35792503
GRCh38: 9:35792506-35792506
37 NPR2 NM_003995.3(NPR2):c.1644C>T (p.Val548=) SNV Uncertain significance 366786 rs772510686 GRCh37: 9:35802214-35802214
GRCh38: 9:35802217-35802217
38 NPR2 NM_003995.3(NPR2):c.2261G>A (p.Arg754Gln) SNV Uncertain significance 366789 rs763488261 GRCh37: 9:35806119-35806119
GRCh38: 9:35806122-35806122
39 NPR2 NM_003995.3(NPR2):c.312T>C (p.Pro104=) SNV Uncertain significance 366778 rs886063910 GRCh37: 9:35792717-35792717
GRCh38: 9:35792720-35792720
40 NPR2 NM_003995.3(NPR2):c.725G>A (p.Arg242Lys) SNV Uncertain significance 366781 rs774099913 GRCh37: 9:35793952-35793952
GRCh38: 9:35793955-35793955
41 NPR2 NM_003995.3(NPR2):c.1403T>G (p.Ile468Ser) SNV Uncertain significance 366784 rs886063912 GRCh37: 9:35801118-35801118
GRCh38: 9:35801121-35801121
42 NPR2 NM_003995.4(NPR2):c.653G>A (p.Arg218Gln) SNV Uncertain significance 802485 rs1285934866 GRCh37: 9:35793058-35793058
GRCh38: 9:35793061-35793061
43 NPR2 NM_003995.4(NPR2):c.1368G>A (p.Leu456=) SNV Uncertain significance 840961 GRCh37: 9:35801083-35801083
GRCh38: 9:35801086-35801086
44 NPR2 NM_003995.4(NPR2):c.1517G>A (p.Arg506His) SNV Uncertain significance 843278 GRCh37: 9:35801720-35801720
GRCh38: 9:35801723-35801723
45 NPR2 NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu) SNV Uncertain significance 843685 GRCh37: 9:35800800-35800800
GRCh38: 9:35800803-35800803
46 NPR2 NM_003995.3(NPR2):c.830A>G (p.Asn277Ser) SNV Uncertain significance 521609 rs770531192 GRCh37: 9:35794057-35794057
GRCh38: 9:35794060-35794060
47 NPR2 NM_003995.3(NPR2):c.2321C>T (p.Ala774Val) SNV Uncertain significance 445544 rs369154896 GRCh37: 9:35806179-35806179
GRCh38: 9:35806182-35806182
48 NPR2 NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser) SNV Uncertain significance 848001 GRCh37: 9:35807060-35807060
GRCh38: 9:35807063-35807063
49 NPR2 , SPAG8 NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) SNV Uncertain significance 858821 GRCh37: 9:35808633-35808633
GRCh38: 9:35808636-35808636
50 NPR2 NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu) SNV Uncertain significance 913002 GRCh37: 9:35802591-35802591
GRCh38: 9:35802594-35802594

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia, Maroteaux Type:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 NPR2 p.Pro32Thr VAR_022583 rs28931581
2 NPR2 p.Trp115Gly VAR_022584 rs28931582
3 NPR2 p.Asp176Glu VAR_022585 rs28929479
4 NPR2 p.Thr297Met VAR_022586 rs131376543
5 NPR2 p.Tyr338Cys VAR_022587
6 NPR2 p.Ala409Thr VAR_022588
7 NPR2 p.Gly413Glu VAR_022589
8 NPR2 p.Tyr708Cys VAR_022590 rs130533703
9 NPR2 p.Arg776Trp VAR_022591 rs130391363
10 NPR2 p.Arg957Cys VAR_022592 rs370158184
11 NPR2 p.Gly959Ala VAR_022593
12 NPR2 p.Leu658Phe VAR_076481 rs131454272

Expression for Acromesomelic Dysplasia, Maroteaux Type

Search GEO for disease gene expression data for Acromesomelic Dysplasia, Maroteaux Type.

Pathways for Acromesomelic Dysplasia, Maroteaux Type

GO Terms for Acromesomelic Dysplasia, Maroteaux Type

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.61 SHOX NPR3 FGFR3
2 bone morphogenesis GO:0060349 9.48 PAPPA2 FGFR3
3 regulation of multicellular organism growth GO:0040014 9.46 NPPC GDF5
4 cGMP-mediated signaling GO:0019934 9.4 NPR2 NPPC
5 cGMP biosynthetic process GO:0006182 9.37 NPR2 NPPC
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 NPR2 NPPC
7 reproductive process GO:0022414 9.26 NPR2 NPPC
8 positive regulation of cGMP-mediated signaling GO:0010753 9.16 NPR2 NPPC
9 negative regulation of meiotic cell cycle GO:0051447 8.96 NPR2 NPPC
10 negative regulation of oocyte maturation GO:1900194 8.62 NPR2 NPPC

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 9.16 NPR3 NPR2
2 hormone binding GO:0042562 8.96 NPR3 NPR2
3 natriuretic peptide receptor activity GO:0016941 8.62 NPR3 NPR2

Sources for Acromesomelic Dysplasia, Maroteaux Type

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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