AMDM
MCID: ACR011
MIFTS: 55

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 59 75 37 13 55 44 15 73
Acromesomelic Dysplasia Maroteaux Type 53 29 6
Amdm 57 53 75
St. Helena Dysplasia 57 75
Acromesomelic Dysplasia Hunter-Thompson Type 73
Dysplasia, Acromesomelic, Maroteaux Type ) 40
Acromesomelic Dwarfism Maroteux Type 53

Characteristics:

Orphanet epidemiological data:

59
acromesomelic dysplasia, maroteaux type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
acromesomelic dysplasia, maroteaux type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602875
Disease Ontology 12 DOID:0080050
Orphanet 59 ORPHA40
MESH via Orphanet 45 C535661
UMLS via Orphanet 74 C1864356
ICD10 via Orphanet 34 Q77.8
KEGG 37 H00470

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)

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 TGF-Beta Pathway and CREB Pathway. Affiliated tissues include bone, skin and pituitary, 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 : 53 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acromesomelic Dysplasia, Maroteaux Type:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
4 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
5 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
6 bowing of the long bones 59 32 frequent (33%) Frequent (79-30%) HP:0006487
7 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
8 beaking of vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004568
9 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
10 ovoid vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003300
11 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
12 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
13 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
14 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
15 vertebral wedging 59 32 frequent (33%) Frequent (79-30%) HP:0008422
16 disproportionate short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003498
17 acromesomelia 59 32 frequent (33%) Frequent (79-30%) HP:0003086
18 short nose 32 HP:0003196
19 abnormal form of the vertebral bodies 59 Frequent (79-30%)
20 short toe 32 HP:0001831
21 joint laxity 32 HP:0001388
22 broad finger 32 HP:0001500
23 short metacarpal 32 HP:0010049
24 hypoplasia of the radius 32 HP:0002984
25 long hallux 32 HP:0001847
26 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
27 short phalanx of finger 32 HP:0009803
28 lumbar hyperlordosis 32 HP:0002938
29 limited elbow extension 32 HP:0001377
30 radial bowing 32 HP:0002986
31 short metatarsal 32 HP:0010743
32 short nail 32 HP:0001799
33 broad metatarsal 32 HP:0001783
34 flared metaphysis 32 HP:0003015
35 broad metacarpals 32 HP:0001230
36 thoracolumbar kyphosis 32 HP:0005619
37 lower thoracic kyphosis 32 HP:0004633
38 broad phalanx 32 HP:0006009
39 redundant skin on fingers 32 HP:0007516
40 thoracolumbar interpediculate narrowness 32 HP:0008484

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.65 MAPK1 MAPK3
2 Decreased substrate adherent cell growth GR00193-A-2 9.65 MAP2K7 MAPK3
3 Decreased substrate adherent cell growth GR00193-A-3 9.65 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
4 Decreased substrate adherent cell growth GR00193-A-4 9.65 MAPK1
5 Decreased cell migration GR00055-A-1 9.56 FGFR3 MAPK1 MAPK3 NPR2
6 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.46 FGFR3 MAP2K7 MAPK1 MAPK3
7 Decreased telomerase activity GR00156-A 8.8 FGFR3 MAPK1 MAPK3

MGI Mouse Phenotypes related to Acromesomelic Dysplasia, Maroteaux Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 FGFR3 GDF5 GHR IGF1 MAPK1 MAPK3
2 endocrine/exocrine gland MP:0005379 10 GHR IGF1 MAP2K7 MAPK1 MAPK3 NPPC
3 mortality/aging MP:0010768 9.97 FGFR3 GDF5 GHR IGF1 MAP2K7 MAPK1
4 craniofacial MP:0005382 9.88 FGFR3 MAPK1 MAPK3 NPPC NPR2
5 integument MP:0010771 9.88 FGFR3 GHR IGF1 MAP2K7 MAPK1 MAPK3
6 limbs/digits/tail MP:0005371 9.85 FGFR3 GDF5 GHR IGF1 NPPC NPR2
7 nervous system MP:0003631 9.81 FGFR3 GHR IGF1 MAP2K7 MAPK1 MAPK3
8 neoplasm MP:0002006 9.65 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
9 reproductive system MP:0005389 9.56 FGFR3 GDF5 GHR IGF1 MAP2K7 MAPK1
10 skeleton MP:0005390 9.23 FGFR3 GDF5 GHR IGF1 MAPK1 MAPK3

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:

41
Bone, Skin, Pituitary, Neutrophil

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

19
Vertebral Column, Limb

Publications for Acromesomelic Dysplasia, Maroteaux Type

Articles related to Acromesomelic Dysplasia, Maroteaux Type:

# Title Authors Year
1
Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. ( 29503224 )
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
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE. ( 26349192 )
2015
4
Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. ( 25959430 )
2015
5
The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM). ( 25319082 )
2014
6
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
7
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. ( 10633136 )
2000
8
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:

75 (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
5 NPR2 p.Tyr338Cys VAR_022587
6 NPR2 p.Ala409Thr VAR_022588
7 NPR2 p.Gly413Glu VAR_022589
8 NPR2 p.Tyr708Cys VAR_022590
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

ClinVar genetic disease variations for Acromesomelic Dysplasia, Maroteaux Type:

6 (show all 38)
# 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.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh38 Chromosome 9, 35800126: 35800126
10 NPR2 NM_003995.3(NPR2): c.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh37 Chromosome 9, 35800123: 35800123
11 NPR2 NM_003995.3(NPR2): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs1057519324 GRCh38 Chromosome 9, 35801153: 35801153
12 NPR2 NM_003995.3(NPR2): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs1057519324 GRCh37 Chromosome 9, 35801150: 35801150
13 NPR2 NM_003995.3(NPR2): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs1057519335 GRCh38 Chromosome 9, 35792968: 35792968
14 NPR2 NM_003995.3(NPR2): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs1057519335 GRCh37 Chromosome 9, 35792965: 35792965
15 NPR2 NM_003995.3(NPR2): c.1758delC (p.Cys586Terfs) deletion Pathogenic rs1057519334 GRCh38 Chromosome 9, 35802550: 35802550
16 NPR2 NM_003995.3(NPR2): c.1758delC (p.Cys586Terfs) deletion Pathogenic rs1057519334 GRCh37 Chromosome 9, 35802547: 35802547
17 NPR2 NM_003995.3(NPR2): c.2302T> C (p.Cys768Arg) single nucleotide variant Pathogenic rs1057519333 GRCh38 Chromosome 9, 35806163: 35806163
18 NPR2 NM_003995.3(NPR2): c.2302T> C (p.Cys768Arg) single nucleotide variant Pathogenic rs1057519333 GRCh37 Chromosome 9, 35806160: 35806160
19 NPR2 NM_003995.3(NPR2): c.2944G> A (p.Asp982Asn) single nucleotide variant Pathogenic rs1057519336 GRCh38 Chromosome 9, 35808811: 35808811
20 NPR2 NM_003995.3(NPR2): c.2944G> A (p.Asp982Asn) single nucleotide variant Pathogenic rs1057519336 GRCh37 Chromosome 9, 35808808: 35808808
21 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh37 Chromosome 9, 35809200: 35809200
22 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh38 Chromosome 9, 35809203: 35809203
23 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 35799732: 35799732
24 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 35799729: 35799729
25 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh37 Chromosome 9, 35793891: 35793891
26 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh38 Chromosome 9, 35793894: 35793894
27 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 35792882: 35792882
28 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 35792885: 35792885
29 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh38 Chromosome 9, 35793931: 35793931
30 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh37 Chromosome 9, 35793928: 35793928
31 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh37 Chromosome 9, 35807327: 35807327
32 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh38 Chromosome 9, 35807330: 35807330
33 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh37 Chromosome 9, 35792495: 35792495
34 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh38 Chromosome 9, 35792498: 35792498
35 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance rs778410447 GRCh38 Chromosome 9, 35800803: 35800803
36 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance rs778410447 GRCh37 Chromosome 9, 35800800: 35800800
37 NPR2 NM_003995.3(NPR2): c.2713-2A> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 35808504: 35808504
38 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 87)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 FGFR3 GDF5 GHR IGF1 MAP2K7 MAPK1
2
Show member pathways
13.18 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPR2
3
Show member pathways
13.14 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
4
Show member pathways
13.11 GHR IGF1 MAP2K7 MAPK1 MAPK3
5
Show member pathways
13.1 FGFR3 GDF5 IGF1 MAPK1 MAPK3 NPR2
6
Show member pathways
12.94 FGFR3 GDF5 IGF1 MAPK1 MAPK3
7
Show member pathways
12.93 FGFR3 GDF5 IGF1 MAPK1 MAPK3
8
Show member pathways
12.88 FGFR3 GHR IGF1 MAPK1 MAPK3
9
Show member pathways
12.85 MAP2K7 MAPK1 MAPK3 NPR2
10
Show member pathways
12.83 GHR IGF1 MAPK1 MAPK3
11
Show member pathways
12.82 IGF1 MAP2K7 MAPK1 MAPK3
12 12.75 FGFR3 IGF1 MAPK1 MAPK3
13
Show member pathways
12.7 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
14
Show member pathways
12.64 FGFR3 IGF1 MAPK1 MAPK3
15
Show member pathways
12.61 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
16 12.59 FGFR3 IGF1 MAP2K7 MAPK1 MAPK3
17
Show member pathways
12.58 IGF1 MAP2K7 MAPK1 MAPK3
18
Show member pathways
12.39 FGFR3 IGF1 MAPK1 MAPK3
19
Show member pathways
12.34 FGFR3 MAP2K7 MAPK1 MAPK3
20
Show member pathways
12.26 IGF1 MAPK1 MAPK3
21
Show member pathways
12.24 MAP2K7 MAPK1 MAPK3
22
Show member pathways
12.23 MAP2K7 MAPK1 MAPK3
23 12.23 IGF1 MAPK1 MAPK3
24
Show member pathways
12.21 FGFR3 MAPK1 MAPK3
25
Show member pathways
12.15 MAP2K7 MAPK1 MAPK3
26
Show member pathways
12.12 MAP2K7 MAPK1 MAPK3
27
Show member pathways
12.07 MAP2K7 MAPK1 MAPK3
28
Show member pathways
12.03 FGFR3 MAP2K7 MAPK1 MAPK3
29
Show member pathways
12.01 IGF1 MAPK1 MAPK3
30 11.97 MAP2K7 MAPK1 MAPK3
31
Show member pathways
11.95 MAP2K7 MAPK1 MAPK3
32 11.95 MAP2K7 MAPK1 MAPK3
33
Show member pathways
11.94 IGF1 MAP2K7 MAPK1 MAPK3
34 11.9 MAP2K7 MAPK1 MAPK3
35 11.89 IGF1 MAPK1 MAPK3
36 11.88 MAP2K7 MAPK1 MAPK3
37 11.85 FGFR3 IGF1 MAPK1 MAPK3
38 11.83 IGF1 MAPK1 MAPK3
39
Show member pathways
11.78 FGFR3 GDF5 IGF1 MAPK1 MAPK3
40 11.74 GDF5 MAPK1 MAPK3
41
Show member pathways
11.73 MAP2K7 MAPK1 MAPK3
42 11.65 FGFR3 MAPK1 MAPK3
43 11.58 FGFR3 MAPK1 MAPK3
44 11.57 FGFR3 GHR IGF1
45
Show member pathways
11.54 MAP2K7 MAPK1 MAPK3
46 11.52 MAP2K7 MAPK1 MAPK3
47 11.51 IGF1 MAPK1 MAPK3
48
Show member pathways
11.4 FGFR3 GDF5 IGF1 MAP2K7 MAPK1 MAPK3
49
Show member pathways
11.34 MAP2K7 MAPK1 MAPK3
50 11.34 FGFR3 GDF5 IGF1 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 40)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.97 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 FGFR3 MAPK1 MAPK3
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 FGFR3 GHR IGF1
4 response to exogenous dsRNA GO:0043330 9.68 MAPK1 MAPK3
5 regulation of cytoskeleton organization GO:0051493 9.68 MAPK1 MAPK3
6 thyroid gland development GO:0030878 9.68 MAPK1 MAPK3
7 regulation of DNA-binding transcription factor activity GO:0051090 9.67 MAPK1 MAPK3
8 neural crest cell development GO:0014032 9.67 MAPK1 MAPK3
9 cGMP-mediated signaling GO:0019934 9.67 NPPC NPR2
10 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.66 MAPK1 MAPK3
11 lung morphogenesis GO:0060425 9.66 MAPK1 MAPK3
12 face development GO:0060324 9.65 MAPK1 MAPK3
13 cellular response to dopamine GO:1903351 9.65 MAPK1 MAPK3
14 insulin-like growth factor receptor signaling pathway GO:0048009 9.65 GHR IGF1
15 regulation of ossification GO:0030278 9.64 MAPK1 MAPK3
16 positive regulation of protein import into nucleus, translocation GO:0033160 9.64 IGF1 MAPK1
17 cGMP biosynthetic process GO:0006182 9.63 NPPC NPR2
18 receptor guanylyl cyclase signaling pathway GO:0007168 9.63 NPPC NPR2
19 reproductive process GO:0022414 9.62 NPPC NPR2
20 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.62 MAPK1 NPR2
21 outer ear morphogenesis GO:0042473 9.61 MAPK1 MAPK3
22 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAPK1 MAPK3
23 Bergmann glial cell differentiation GO:0060020 9.6 MAPK1 MAPK3
24 positive regulation of cGMP-mediated signaling GO:0010753 9.59 NPPC NPR2
25 positive regulation of telomerase activity GO:0051973 9.58 MAP2K7 MAPK1 MAPK3
26 regulation of early endosome to late endosome transport GO:2000641 9.57 MAPK1 MAPK3
27 trachea formation GO:0060440 9.55 MAPK1 MAPK3
28 caveolin-mediated endocytosis GO:0072584 9.54 MAPK1 MAPK3
29 positive regulation of telomere maintenance via telomerase GO:0032212 9.54 MAP2K7 MAPK1 MAPK3
30 regulation of cellular pH GO:0030641 9.52 MAPK1 MAPK3
31 negative regulation of meiotic cell cycle GO:0051447 9.51 NPPC NPR2
32 ERK1 and ERK2 cascade GO:0070371 9.5 IGF1 MAPK1 MAPK3
33 regulation of Golgi inheritance GO:0090170 9.49 MAPK1 MAPK3
34 response to epidermal growth factor GO:0070849 9.48 MAPK1 MAPK3
35 cardiac neural crest cell development involved in heart development GO:0061308 9.46 MAPK1 MAPK3
36 negative regulation of oocyte maturation GO:1900194 9.43 NPPC NPR2
37 stress-activated MAPK cascade GO:0051403 9.43 MAP2K7 MAPK1 MAPK3
38 activation of MAPK activity GO:0000187 9.35 GHR IGF1 MAP2K7 MAPK1 MAPK3
39 positive regulation of telomere capping GO:1904355 9.33 MAP2K7 MAPK1 MAPK3
40 regulation of multicellular organism growth GO:0040014 8.92 GDF5 GHR IGF1 NPPC

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 FGFR3 GDF5 GHR MAPK1 MAPK3 NPR2
2 protein kinase activity GO:0004672 9.35 FGFR3 MAP2K7 MAPK1 MAPK3 NPR2
3 MAP kinase activity GO:0004707 9.26 MAPK1 MAPK3
4 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 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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