AMDM
MCID: ACR011
MIFTS: 53

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 58 12 60 76 38 13 56 45 15 74
Acromesomelic Dysplasia Maroteaux Type 54 30 6
Amdm 58 54 76
St. Helena Dysplasia 58 76
Acromesomelic Dysplasia Hunter-Thompson Type 74
Dysplasia, Acromesomelic, Maroteaux Type ) 41
Acromesomelic Dwarfism Maroteux Type 54

Characteristics:

Orphanet epidemiological data:

60
acromesomelic dysplasia, maroteaux type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
acromesomelic dysplasia, maroteaux type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080050
OMIM 58 602875
KEGG 38 H00470
MESH via Orphanet 46 C535661
ICD10 via Orphanet 35 Q77.8
UMLS via Orphanet 75 C1864356
Orphanet 60 ORPHA40

Summaries for Acromesomelic Dysplasia, Maroteaux Type

OMIM : 58 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 acromesomelic dysplasia maroteaux type, is related to acromesomelic dysplasia and chondrodysplasia, grebe type. An important gene associated with Acromesomelic Dysplasia, Maroteaux Type is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta Pathway. Affiliated tissues include bone, skin and vertebral column, 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 located in vertebral column and shortening of middle and distal segments in the located in limb.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 40Disease definitionAcromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) 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 (see these terms).Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
2 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
4 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
5 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
6 bowing of the long bones 60 33 frequent (33%) Frequent (79-30%) HP:0006487
7 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
8 beaking of vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0004568
9 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
10 ovoid vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003300
11 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
12 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
13 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
14 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
15 vertebral wedging 60 33 frequent (33%) Frequent (79-30%) HP:0008422
16 disproportionate short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003498
17 acromesomelia 60 33 frequent (33%) Frequent (79-30%) HP:0003086
18 short nose 33 HP:0003196
19 abnormal form of the vertebral bodies 60 Frequent (79-30%)
20 short toe 33 HP:0001831
21 joint laxity 33 HP:0001388
22 broad finger 33 HP:0001500
23 short metacarpal 33 HP:0010049
24 hypoplasia of the radius 33 HP:0002984
25 long hallux 33 HP:0001847
26 cone-shaped epiphyses of the phalanges of the hand 33 HP:0010230
27 short phalanx of finger 33 HP:0009803
28 lumbar hyperlordosis 33 HP:0002938
29 limited elbow extension 33 HP:0001377
30 radial bowing 33 HP:0002986
31 short metatarsal 33 HP:0010743
32 short nail 33 HP:0001799
33 broad metatarsal 33 HP:0001783
34 flared metaphysis 33 HP:0003015
35 broad phalanx 33 HP:0006009
36 thoracolumbar kyphosis 33 HP:0005619
37 broad metacarpals 33 HP:0001230
38 lower thoracic kyphosis 33 HP:0004633
39 redundant skin on fingers 33 HP:0007516
40 thoracolumbar interpediculate narrowness 33 HP:0008484

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
short nose

Skeletal:
joint laxity

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

Chest Ribs Sternum Clavicles And Scapulae:
superiorly curved clavicles

Head And Neck Face:
prominent forehead

Skeletal Limbs:
limited elbow extension
acromesomelia
bowed radius
short tubular bones
metaphyseal flaring of long bones
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

Skeletal Spine:
increased lumbar lordosis
lower thoracic kyphosis
oval vertebral bodies (infancy)
anterior beaking (childhood)
gibbus deformity
more
Skin Nails Hair Skin:
loose, redundant skin on fingers

Clinical features from OMIM:

602875

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.85 MAPK1 MAPK3
2 Decreased substrate adherent cell growth GR00193-A-2 9.85 MAP2K7 MAPK3
3 Decreased substrate adherent cell growth GR00193-A-3 9.85 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
4 Decreased substrate adherent cell growth GR00193-A-4 9.85 MAPK1
5 Decreased cell migration GR00055-A-1 9.62 FGFR3 MAPK1 MAPK3 NPR2
6 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.56 FGFR3 MAP2K7 MAPK1 MAPK3
7 Decreased telomerase activity GR00156-A 9.13 FGFR3 MAPK1 MAPK3
8 Decreased viability with paclitaxel GR00179-A-1 8.92 IGF1 MAPK3
9 Decreased viability with paclitaxel GR00179-A-2 8.92 IGF1
10 Decreased viability with paclitaxel GR00179-A-3 8.92 MAPK3

MGI Mouse Phenotypes related to Acromesomelic Dysplasia, Maroteaux Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.98 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPPC
2 mortality/aging MP:0010768 9.97 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
3 endocrine/exocrine gland MP:0005379 9.93 IGF1 MAP2K7 MAPK1 MAPK3 NPPC NPR2
4 craniofacial MP:0005382 9.88 FGFR3 MAPK1 MAPK3 NPPC NPR2
5 limbs/digits/tail MP:0005371 9.8 FGFR3 GDF5 IGF1 NPPC NPR2
6 nervous system MP:0003631 9.8 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3 NPPC
7 neoplasm MP:0002006 9.72 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
8 reproductive system MP:0005389 9.7 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 NPPC
9 respiratory system MP:0005388 9.35 FGFR3 IGF1 MAPK1 MAPK3 NPR2
10 skeleton MP:0005390 9.17 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPPC

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 30 NPR2

Anatomical Context for Acromesomelic Dysplasia, Maroteaux Type

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

42
Bone, Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Acromesomelic Dysplasia, Maroteaux Type:

20
Vertebral Column, Limb

Publications for Acromesomelic Dysplasia, Maroteaux Type

Articles related to Acromesomelic Dysplasia, Maroteaux Type:

(show all 11)
# Title Authors Year
1
Acromesomelic dysplasia Maroteaux-type in patients from Vietnam. ( 31077548 )
2019
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
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. ( 25959430 )
2015
5
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. ( 26349192 )
2015
6
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). ( 25319082 )
2014
7
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
8
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. ( 16384845 )
2006
9
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. ( 15146390 )
2004
10
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. ( 10633136 )
2000
11
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. ( 9634515 )
1998

Variations for Acromesomelic Dysplasia, Maroteaux Type

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

76 (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

ClinVar genetic disease variations for Acromesomelic Dysplasia, Maroteaux Type:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPR2 NM_003995.3(NPR2): c.94C> A (p.Pro32Thr) single nucleotide variant Pathogenic rs28931581 GRCh37 Chromosome 9, 35792499: 35792499
2 NPR2 NM_003995.3(NPR2): c.94C> A (p.Pro32Thr) single nucleotide variant Pathogenic rs28931581 GRCh38 Chromosome 9, 35792502: 35792502
3 NPR2 NM_003995.3(NPR2): c.343T> G (p.Trp115Gly) single nucleotide variant Pathogenic rs28931582 GRCh37 Chromosome 9, 35792748: 35792748
4 NPR2 NM_003995.3(NPR2): c.343T> G (p.Trp115Gly) single nucleotide variant Pathogenic rs28931582 GRCh38 Chromosome 9, 35792751: 35792751
5 NPR2 NM_003995.3(NPR2): c.528T> A (p.Asp176Glu) single nucleotide variant Pathogenic rs28929479 GRCh37 Chromosome 9, 35792933: 35792933
6 NPR2 NM_003995.3(NPR2): c.528T> A (p.Asp176Glu) single nucleotide variant Pathogenic rs28929479 GRCh38 Chromosome 9, 35792936: 35792936
7 NPR2 NM_003995.3(NPR2): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121912739 GRCh37 Chromosome 9, 35800424: 35800424
8 NPR2 NM_003995.3(NPR2): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121912739 GRCh38 Chromosome 9, 35800427: 35800427
9 NPR2 NM_003995.3(NPR2): c.64G> T (p.Ala22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140014632 GRCh37 Chromosome 9, 35792469: 35792469
10 NPR2 NM_003995.3(NPR2): c.64G> T (p.Ala22Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140014632 GRCh38 Chromosome 9, 35792472: 35792472
11 NPR2 NM_003995.3(NPR2): c.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh38 Chromosome 9, 35800126: 35800126
12 NPR2 NM_003995.3(NPR2): c.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh37 Chromosome 9, 35800123: 35800123
13 NPR2 NM_003995.3(NPR2): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs1057519324 GRCh38 Chromosome 9, 35801153: 35801153
14 NPR2 NM_003995.3(NPR2): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs1057519324 GRCh37 Chromosome 9, 35801150: 35801150
15 NPR2 NM_003995.3(NPR2): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs1057519335 GRCh38 Chromosome 9, 35792968: 35792968
16 NPR2 NM_003995.3(NPR2): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs1057519335 GRCh37 Chromosome 9, 35792965: 35792965
17 NPR2 NM_003995.3(NPR2): c.1758delC (p.Cys586Terfs) deletion Pathogenic rs1057519334 GRCh38 Chromosome 9, 35802550: 35802550
18 NPR2 NM_003995.3(NPR2): c.1758delC (p.Cys586Terfs) deletion Pathogenic rs1057519334 GRCh37 Chromosome 9, 35802547: 35802547
19 NPR2 NM_003995.3(NPR2): c.2302T> C (p.Cys768Arg) single nucleotide variant Pathogenic rs1057519333 GRCh38 Chromosome 9, 35806163: 35806163
20 NPR2 NM_003995.3(NPR2): c.2302T> C (p.Cys768Arg) single nucleotide variant Pathogenic rs1057519333 GRCh37 Chromosome 9, 35806160: 35806160
21 NPR2 NM_003995.3(NPR2): c.2944G> A (p.Asp982Asn) single nucleotide variant Pathogenic rs1057519336 GRCh38 Chromosome 9, 35808811: 35808811
22 NPR2 NM_003995.3(NPR2): c.2944G> A (p.Asp982Asn) single nucleotide variant Pathogenic rs1057519336 GRCh37 Chromosome 9, 35808808: 35808808
23 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh37 Chromosome 9, 35809200: 35809200
24 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh38 Chromosome 9, 35809203: 35809203
25 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic rs1554672893 GRCh37 Chromosome 9, 35799729: 35799729
26 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic rs1554672893 GRCh38 Chromosome 9, 35799732: 35799732
27 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh37 Chromosome 9, 35793891: 35793891
28 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh38 Chromosome 9, 35793894: 35793894
29 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign rs1554671925 GRCh37 Chromosome 9, 35792882: 35792882
30 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign rs1554671925 GRCh38 Chromosome 9, 35792885: 35792885
31 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh38 Chromosome 9, 35793931: 35793931
32 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh37 Chromosome 9, 35793928: 35793928
33 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh38 Chromosome 9, 35807330: 35807330
34 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh37 Chromosome 9, 35807327: 35807327
35 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh37 Chromosome 9, 35792495: 35792495
36 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh38 Chromosome 9, 35792498: 35792498
37 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 35800803: 35800803
38 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35800800: 35800800
39 NPR2 NM_003995.3(NPR2): c.2713-2A> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 35808504: 35808504
40 NPR2 NM_003995.3(NPR2): c.2713-2A> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 35808507: 35808507

Expression for Acromesomelic Dysplasia, Maroteaux Type

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

Pathways for Acromesomelic Dysplasia, Maroteaux Type

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

(show top 50) (show all 100)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
2
Show member pathways
13.37 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
3
Show member pathways
13.13 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPR2
4
Show member pathways
13.1 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
5
Show member pathways
13.06 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPR2
6
Show member pathways
12.92 IGF1 MAP2K7 MAPK1 MAPK3
7
Show member pathways
12.92 FGFR3 GDF5 IGF1 MAPK1 MAPK3
8
Show member pathways
12.9 FGFR3 IGF1 MAPK1 MAPK3
9
Show member pathways
12.9 FGFR3 GDF5 IGF1 MAPK1 MAPK3
10
Show member pathways
12.86 IGF1 MAP2K7 MAPK1 MAPK3
11
Show member pathways
12.82 MAP2K7 MAPK1 MAPK3 NPR2
12
Show member pathways
12.8 IGF1 MAP2K7 MAPK1 MAPK3
13 12.73 FGFR3 IGF1 MAPK1 MAPK3
14
Show member pathways
12.68 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
15
Show member pathways
12.62 FGFR3 IGF1 MAPK1 MAPK3
16
Show member pathways
12.56 IGF1 MAP2K7 MAPK1 MAPK3
17 12.52 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
18
Show member pathways
12.48 MAP2K7 MAPK1 MAPK3
19
Show member pathways
12.47 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
20
Show member pathways
12.38 FGFR3 IGF1 MAPK1 MAPK3
21 12.35 MAP2K7 MAPK1 MAPK3
22
Show member pathways
12.35 MAP2K7 MAPK1 MAPK3
23
Show member pathways
12.33 IGF1 MAPK1 MAPK3
24
Show member pathways
12.3 FGFR3 MAP2K7 MAPK1 MAPK3
25
Show member pathways
12.28 IGF1 MAPK1 MAPK3
26
Show member pathways
12.25 IGF1 MAPK1 MAPK3
27
Show member pathways
12.23 MAP2K7 MAPK1 MAPK3
28
Show member pathways
12.22 MAP2K7 MAPK1 MAPK3
29 12.22 IGF1 MAPK1 MAPK3
30
Show member pathways
12.2 FGFR3 MAPK1 MAPK3
31
Show member pathways
12.19 MAP2K7 MAPK1 MAPK3
32
Show member pathways
12.14 MAP2K7 MAPK1 MAPK3
33
Show member pathways
12.13 FGFR3 MAPK1 MAPK3
34
Show member pathways
12.11 MAP2K7 MAPK1 MAPK3
35
Show member pathways
12.05 MAP2K7 MAPK1 MAPK3
36
Show member pathways
12.05 FGFR3 MAP2K7 MAPK1 MAPK3
37
Show member pathways
12.01 IGF1 MAPK1 MAPK3
38 11.97 MAP2K7 MAPK1 MAPK3
39
Show member pathways
11.94 MAP2K7 MAPK1 MAPK3
40 11.94 MAP2K7 MAPK1 MAPK3
41
Show member pathways
11.94 IGF1 MAP2K7 MAPK1 MAPK3
42 11.88 MAP2K7 MAPK1 MAPK3
43 11.87 IGF1 MAPK1 MAPK3
44 11.86 MAP2K7 MAPK1 MAPK3
45 11.85 FGFR3 IGF1 MAPK1 MAPK3
46 11.81 IGF1 MAPK1 MAPK3
47 11.78 GDF5 MAPK1 MAPK3
48
Show member pathways
11.78 FGFR3 GDF5 IGF1 MAPK1 MAPK3
49
Show member pathways
11.72 MAP2K7 MAPK1 MAPK3
50 11.64 FGFR3 MAPK1 MAPK3

GO Terms for Acromesomelic Dysplasia, Maroteaux Type

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

# Name GO ID Score Top Affiliating Genes
1 pseudopodium GO:0031143 8.62 MAPK1 MAPK3

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.98 FGFR3 MAP2K7 MAPK1 MAPK3
2 phosphorylation GO:0016310 9.98 FGFR3 MAP2K7 MAPK1 MAPK3
3 protein phosphorylation GO:0006468 9.92 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
4 MAPK cascade GO:0000165 9.85 FGFR3 MAPK1 MAPK3
5 regulation of gene expression GO:0010468 9.85 IGF1 MAPK1 MAPK3
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.74 FGFR3 MAPK1 MAPK3
7 regulation of cellular response to heat GO:1900034 9.7 MAPK1 MAPK3
8 cellular response to organic substance GO:0071310 9.7 MAPK1 MAPK3
9 regulation of cardiac conduction GO:1903779 9.7 NPPC NPR2
10 cellular response to cadmium ion GO:0071276 9.69 MAPK1 MAPK3
11 cellular response to reactive oxygen species GO:0034614 9.69 MAPK1 MAPK3
12 lipopolysaccharide-mediated signaling pathway GO:0031663 9.69 MAPK1 MAPK3
13 response to exogenous dsRNA GO:0043330 9.68 MAPK1 MAPK3
14 regulation of cytoskeleton organization GO:0051493 9.67 MAPK1 MAPK3
15 thyroid gland development GO:0030878 9.67 MAPK1 MAPK3
16 regulation of DNA-binding transcription factor activity GO:0051090 9.66 MAPK1 MAPK3
17 neural crest cell development GO:0014032 9.66 MAPK1 MAPK3
18 cGMP-mediated signaling GO:0019934 9.65 NPPC NPR2
19 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.65 MAPK1 MAPK3
20 lung morphogenesis GO:0060425 9.65 MAPK1 MAPK3
21 face development GO:0060324 9.64 MAPK1 MAPK3
22 cellular response to dopamine GO:1903351 9.64 MAPK1 MAPK3
23 regulation of ossification GO:0030278 9.63 MAPK1 MAPK3
24 cGMP biosynthetic process GO:0006182 9.63 NPPC NPR2
25 receptor guanylyl cyclase signaling pathway GO:0007168 9.62 NPPC NPR2
26 reproductive process GO:0022414 9.62 NPPC NPR2
27 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.61 MAPK1 NPR2
28 outer ear morphogenesis GO:0042473 9.61 MAPK1 MAPK3
29 regulation of stress-activated MAPK cascade GO:0032872 9.6 MAPK1 MAPK3
30 Bergmann glial cell differentiation GO:0060020 9.59 MAPK1 MAPK3
31 positive regulation of cGMP-mediated signaling GO:0010753 9.58 NPPC NPR2
32 regulation of early endosome to late endosome transport GO:2000641 9.58 MAPK1 MAPK3
33 positive regulation of telomerase activity GO:0051973 9.58 MAP2K7 MAPK1 MAPK3
34 trachea formation GO:0060440 9.56 MAPK1 MAPK3
35 caveolin-mediated endocytosis GO:0072584 9.55 MAPK1 MAPK3
36 regulation of cellular pH GO:0030641 9.54 MAPK1 MAPK3
37 positive regulation of telomere maintenance via telomerase GO:0032212 9.54 MAP2K7 MAPK1 MAPK3
38 negative regulation of meiotic cell cycle GO:0051447 9.51 NPPC NPR2
39 regulation of multicellular organism growth GO:0040014 9.5 GDF5 IGF1 NPPC
40 regulation of Golgi inheritance GO:0090170 9.49 MAPK1 MAPK3
41 response to epidermal growth factor GO:0070849 9.48 MAPK1 MAPK3
42 cardiac neural crest cell development involved in heart development GO:0061308 9.46 MAPK1 MAPK3
43 negative regulation of oocyte maturation GO:1900194 9.43 NPPC NPR2
44 ERK1 and ERK2 cascade GO:0070371 9.43 IGF1 MAPK1 MAPK3
45 chondrocyte differentiation GO:0002062 9.4 FGFR3
46 stress-activated MAPK cascade GO:0051403 9.33 MAP2K7 MAPK1 MAPK3
47 activation of MAPK activity GO:0000187 9.26 IGF1 MAP2K7 MAPK1 MAPK3
48 positive regulation of telomere capping GO:1904355 8.8 MAP2K7 MAPK1 MAPK3

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.77 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
2 identical protein binding GO:0042802 9.65 FGFR3 GDF5 MAPK1 MAPK3 NPR2
3 kinase activity GO:0016301 9.62 FGFR3 MAP2K7 MAPK1 MAPK3
4 phosphotyrosine residue binding GO:0001784 9.4 MAPK1 MAPK3
5 protein kinase activity GO:0004672 9.35 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
6 MAP kinase activity GO:0004707 9.16 MAPK1 MAPK3
7 MAP kinase kinase activity GO:0004708 8.8 MAP2K7 MAPK1 MAPK3

Sources for Acromesomelic Dysplasia, Maroteaux Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....