AMDM
MCID: ACR011
MIFTS: 42

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 56 12 58 73 36 29 13 54 6 43 15 71
Amdm 56 52 73
St. Helena Dysplasia 56 73
Acromesomelic Dysplasia Hunter-Thompson Type 71
Dysplasia, Acromesomelic, Maroteaux Type ) 39
Acromesomelic Dysplasia Maroteaux Type 52
Acromesomelic Dwarfism Maroteux Type 52

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:

56
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 56 602875
KEGG 36 H00470
MESH via Orphanet 44 C535661
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C1864356
Orphanet 58 ORPHA40
UMLS 71 C1864356 C2930970

Summaries for Acromesomelic Dysplasia, Maroteaux Type

OMIM : 56 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)

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 skin, and related phenotypes are depressed nasal bridge 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.

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

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 : 73 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 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
4 bowing of the long bones 58 31 frequent (33%) Frequent (79-30%) HP:0006487
5 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
6 beaking of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004568
7 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
8 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
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:

56
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

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, Skin

Publications for Acromesomelic Dysplasia, Maroteaux Type

Articles related to Acromesomelic Dysplasia, Maroteaux Type:

(show all 37)
# Title Authors PMID Year
1
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 6 56 61
15146390 2004
2
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. 6 54 61
16384845 2006
3
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. 61 56
10633136 2000
4
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. 56 61
9634515 1998
5
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping. 56
10845568 2000
6
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. 56
8281387 1993
7
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 56
2703235 1989
8
Genetic disorders on the island of St Helena. 56
4049161 1985
9
Acromesomelic dysplasia. 56
7433666 1980
10
Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. 56
964999 1976
11
[Acromesomelic dwarfism]. 56
5000841 1971
12
C-type natriuretic peptide in growth: a new paradigm. 61 54
16716628 2006
13
A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan). 61
32506268 2020
14
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. 61
30359775 2019
15
Acromesomelic dysplasia Maroteaux-type in patients from Vietnam. 61
31077548 2019
16
House dust mite drives proinflammatory eicosanoid reprogramming and macrophage effector functions. 61
30554425 2019
17
Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. 61
29503224 2018
18
An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases. 61
29423467 2018
19
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. 61
30622824 2018
20
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
21
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. 61
26567084 2016
22
Near-Infrared Spectroscopy as a Novel Non-Invasive Tool to Assess Spiny Lobster Nutritional Condition. 61
27442242 2016
23
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. 61
25959430 2015
24
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. 61
25703509 2015
25
Anticancer drug nanomicelles formed by self-assembling amphiphilic dendrimer to combat cancer drug resistance. 61
25713374 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
Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia. 61
24249999 2013
30
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
31
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux. 61
22691581 2012
32
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 61
18945719 2009
33
C-type natriuretic peptide regulation of limb mesenchymal chondrogenesis is accompanied by altered N-cadherin and collagen type X-related functions. 61
18461555 2008
34
C-natriuretic peptide: an important regulator of cartilage. 61
17681481 2007
35
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. 54
17652215 2007
36
Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. 54
16291870 2006
37
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 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPR2 NM_003995.3(NPR2):c.94C>A (p.Pro32Thr)SNV Pathogenic 17784 rs28931581 9:35792499-35792499 9:35792502-35792502
2 NPR2 NM_003995.3(NPR2):c.343T>G (p.Trp115Gly)SNV Pathogenic 17785 rs28931582 9:35792748-35792748 9:35792751-35792751
3 NPR2 NM_003995.3(NPR2):c.528T>A (p.Asp176Glu)SNV Pathogenic 17786 rs28929479 9:35792933-35792933 9:35792936-35792936
4 NPR2 NM_003995.4(NPR2):c.1162C>TSNV Pathogenic 17787 rs121912739 9:35800424-35800424 9:35800427-35800427
5 NPR2 NM_003995.3(NPR2):c.1092del (p.Ile364fs)deletion Pathogenic 208355 rs879255257 9:35800122-35800122 9:35800125-35800125
6 NPR2 NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter)SNV Pathogenic 375290 rs1057519324 9:35801150-35801150 9:35801153-35801153
7 NPR2 NM_003995.3(NPR2):c.560T>A (p.Val187Asp)SNV Pathogenic 375293 rs1057519335 9:35792965-35792965 9:35792968-35792968
8 NPR2 NM_003995.3(NPR2):c.1758delC (p.Cys586Terfs)deletion Pathogenic 375292 rs1057519334 9:35802547-35802547 9:35802550-35802550
9 NPR2 NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg)SNV Pathogenic 375291 rs1057519333 9:35806160-35806160 9:35806163-35806163
10 NPR2 NM_172312.2(SPAG8):c.1373-505C>TSNV Pathogenic 375294 rs1057519336 9:35808808-35808808 9:35808811-35808811
11 NPR2 NM_003995.3(NPR2):c.987+1G>CSNV Likely pathogenic 468349 rs1554672893 9:35799729-35799729 9:35799732-35799732
12 NPR2 NM_172312.2(SPAG8):c.1373-201T>ASNV Likely pathogenic 579260 rs1563993649 9:35808504-35808504 9:35808507-35808507
13 NPR2 NM_003995.3(NPR2):c.298G>A (p.Gly100Ser)SNV Likely pathogenic 694580 9:35792703-35792703 9:35792706-35792706
14 NPR2 NM_003995.3(NPR2):c.90G>A (p.Val30=)SNV Conflicting interpretations of pathogenicity 541976 rs56036598 9:35792495-35792495 9:35792498-35792498
15 NPR2 NM_003995.3(NPR2):c.1351+10T>CSNV Conflicting interpretations of pathogenicity 772262 9:35800848-35800848 9:35800851-35800851
16 NPR2 NM_003995.3(NPR2):c.649A>T (p.Ile217Phe)SNV Conflicting interpretations of pathogenicity 366780 rs191155989 9:35793054-35793054 9:35793057-35793057
17 NPR2 NM_003995.3(NPR2):c.2337T>C (p.Phe779=)SNV Conflicting interpretations of pathogenicity 366790 rs115369552 9:35806195-35806195 9:35806198-35806198
18 NPR2 NM_003995.3(NPR2):c.1572C>T (p.Tyr524=)SNV Conflicting interpretations of pathogenicity 366785 rs150393424 9:35801937-35801937 9:35801940-35801940
19 NPR2 NM_003995.3(NPR2):c.64G>T (p.Ala22Ser)SNV Conflicting interpretations of pathogenicity 193262 rs140014632 9:35792469-35792469 9:35792472-35792472
20 NPR2 NM_003995.3(NPR2):c.2327G>A (p.Arg776Gln)SNV Uncertain significance 283086 rs780293535 9:35806185-35806185 9:35806188-35806188
21 NPR2 NM_172312.2(SPAG8):c.1372+16T>GSNV Uncertain significance 288222 rs138254005 9:35809385-35809385 9:35809388-35809388
22 NPR2 NM_003995.3(NPR2):c.98A>C (p.Glu33Ala)SNV Uncertain significance 366777 rs886063909 9:35792503-35792503 9:35792506-35792506
23 NPR2 NM_003995.3(NPR2):c.1403T>G (p.Ile468Ser)SNV Uncertain significance 366784 rs886063912 9:35801118-35801118 9:35801121-35801121
24 NPR2 NM_172312.2(SPAG8):c.1373-323G>ASNV Uncertain significance 366793 rs781398693 9:35808626-35808626 9:35808629-35808629
25 NPR2 NM_003995.3(NPR2):c.312T>C (p.Pro104=)SNV Uncertain significance 366778 rs886063910 9:35792717-35792717 9:35792720-35792720
26 NPR2 NM_003995.3(NPR2):c.2261G>A (p.Arg754Gln)SNV Uncertain significance 366789 rs763488261 9:35806119-35806119 9:35806122-35806122
27 NPR2 NM_003995.3(NPR2):c.336C>G (p.Ala112=)SNV Uncertain significance 366779 rs533386555 9:35792741-35792741 9:35792744-35792744
28 NPR2 NM_003995.3(NPR2):c.725G>A (p.Arg242Lys)SNV Uncertain significance 366781 rs774099913 9:35793952-35793952 9:35793955-35793955
29 NPR2 NM_003995.3(NPR2):c.853G>A (p.Ala285Thr)SNV Uncertain significance 366782 rs886063911 9:35794080-35794080 9:35794083-35794083
30 NPR2 NM_003995.3(NPR2):c.1644C>T (p.Val548=)SNV Uncertain significance 366786 rs772510686 9:35802214-35802214 9:35802217-35802217
31 NPR2 NM_003995.4(NPR2):c.653G>A (p.Arg218Gln)SNV Uncertain significance 802485 9:35793058-35793058 9:35793061-35793061
32 NPR2 NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu)SNV Uncertain significance 843685 9:35800800-35800800 9:35800803-35800803
33 NPR2 NM_003995.4(NPR2):c.1368G>A (p.Leu456=)SNV Uncertain significance 840961 9:35801083-35801083 9:35801086-35801086
34 NPR2 NM_003995.4(NPR2):c.1517G>A (p.Arg506His)SNV Uncertain significance 843278 9:35801720-35801720 9:35801723-35801723
35 NPR2 NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser)SNV Uncertain significance 848001 9:35807060-35807060 9:35807063-35807063
36 NPR2 NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro)SNV Uncertain significance 858821 9:35808633-35808633 9:35808636-35808636
37 NPR2 NM_003995.4(NPR2):c.190C>T (p.Leu64=)SNV Uncertain significance 913325 9:35792595-35792595 9:35792598-35792598
38 NPR2 NM_003995.4(NPR2):c.833G>A (p.Arg278His)SNV Uncertain significance 914446 9:35794060-35794060 9:35794063-35794063
39 NPR2 NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)SNV Uncertain significance 914447 9:35799693-35799693 9:35799696-35799696
40 NPR2 NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu)SNV Uncertain significance 913002 9:35802591-35802591 9:35802594-35802594
41 NPR2 NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn)SNV Uncertain significance 913004 9:35806110-35806110 9:35806113-35806113
42 NPR2 NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)SNV Uncertain significance 913005 9:35806209-35806209 9:35806212-35806212
43 NPR2 NM_003995.4(NPR2):c.2460A>C (p.Thr820=)SNV Uncertain significance 913370 9:35806476-35806476 9:35806479-35806479
44 NPR2 NM_003995.4(NPR2):c.2523A>G (p.Ser841=)SNV Uncertain significance 913373 9:35807023-35807023 9:35807026-35807026
45 NPR2 NM_003995.4(NPR2):c.2721G>A (p.Thr907=)SNV Uncertain significance 913374 9:35808514-35808514 9:35808517-35808517
46 NPR2 NM_003995.4(NPR2):c.2840G>A (p.Arg947His)SNV Uncertain significance 914491 9:35808633-35808633 9:35808636-35808636
47 NPR2 NM_003995.4(NPR2):c.3063G>C (p.Gly1021=)SNV Uncertain significance 914492 9:35809229-35809229 9:35809232-35809232
48 NPR2 NM_003995.4(NPR2):c.*2C>TSNV Uncertain significance 914493 9:35809444-35809444 9:35809447-35809447
49 NPR2 NM_003995.4(NPR2):c.*270A>TSNV Uncertain significance 914494 9:35809712-35809712 9:35809715-35809715
50 NPR2 NM_003995.4(NPR2):c.1437-3C>TSNV Uncertain significance 914958 9:35801637-35801637 9:35801640-35801640

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

73 (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 cell-cell signaling GO:0007267 9.63 GPR101 GDF5 FGFR3
2 regulation of cardiac conduction GO:1903779 9.48 NPR2 NPPC
3 regulation of multicellular organism growth GO:0040014 9.43 NPPC GDF5
4 cGMP-mediated signaling GO:0019934 9.4 NPR2 NPPC
5 cGMP biosynthetic process GO:0006182 9.37 NPR2 NPPC
6 reproductive process GO:0022414 9.32 NPR2 NPPC
7 receptor guanylyl cyclase signaling pathway GO:0007168 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

Sources for Acromesomelic Dysplasia, Maroteaux Type

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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