AMDG
MCID: CHN057
MIFTS: 35

Chondrodysplasia, Grebe Type (AMDG)

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

Aliases & Classifications for Chondrodysplasia, Grebe Type

MalaCards integrated aliases for Chondrodysplasia, Grebe Type:

Name: Chondrodysplasia, Grebe Type 58 54 60 13 74
Acromesomelic Dysplasia, Grebe Type 58 12 54 60 15
Grebe Chondrodysplasia 58 12 54 56
Grebe Dysplasia 58 54 38
Grebe Syndrome 54 30 6
Amdg 58 54 76
Chondrodysplasia, Acromesomelic, Type Grebe 41
Acromesomelic Chondrodysplasia, Grebe Type 76
Acromesomelic Dysplasia, Grebe Type; Amdg 58
Achondrogenesis, Type Ii, Formerly 58
Achondrogenesis, Brazilian 58
Brazilian Achondrogenesis 54

Characteristics:

Orphanet epidemiological data:

60
acromesomelic dysplasia, grebe type
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or death in infancy
heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures
increased frequency in the state of bahia, brazil
allelic to acromesomelic dysplasia, hunter-thompson type , brachydactyly, type c , and fibular hypoplasia nd complex brachydactyly


HPO:

33
chondrodysplasia, grebe type:
Mortality/Aging death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia, Grebe Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2098Disease definitionAcromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chondrodysplasia, Grebe Type, also known as acromesomelic dysplasia, grebe type, is related to acromesomelic dysplasia, hunter-thompson type and acromesomelic dysplasia. An important gene associated with Chondrodysplasia, Grebe Type is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and Hippo signaling pathway. Affiliated tissues include bone and skin, and related phenotypes are skeletal dysplasia and bowing of the long bones

Disease Ontology : 12 An acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.

OMIM : 58 Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). (200700)

UniProtKB/Swiss-Prot : 76 Acromesomelic chondrodysplasia, Grebe 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). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

Related Diseases for Chondrodysplasia, Grebe Type

Diseases related to Chondrodysplasia, Grebe Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia, hunter-thompson type 31.9 BMPR1B GDF5
2 acromesomelic dysplasia 30.2 BMPR1B GDF5
3 brachydactyly 30.0 BMPR1B GDF5
4 acromesomelic dysplasia, maroteaux type 11.5
5 dwarfism 10.5
6 heart disease 10.0
7 fibular hemimelia 10.0
8 fibular hypoplasia and complex brachydactyly 9.8 BMPR1B GDF5
9 proximal symphalangism 9.7 BMPR1B GDF5
10 brachydactyly, type c 9.7 BMPR1B GDF5
11 brachydactyly, type a1 9.7 BMPR1B GDF5
12 brachydactyly, type a2 9.6 BMPR1B GDF5
13 multiple synostoses syndrome 9.5 BMPR1B GDF5

Graphical network of the top 20 diseases related to Chondrodysplasia, Grebe Type:



Diseases related to Chondrodysplasia, Grebe Type

Symptoms & Phenotypes for Chondrodysplasia, Grebe Type

Human phenotypes related to Chondrodysplasia, Grebe Type:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
2 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
3 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
4 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
6 short toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001831
7 sarcoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100242
8 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
9 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
10 synostosis of carpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005048
11 tarsal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008368
12 aplasia/hypoplasia involving the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005914
13 aplasia of the middle phalanges of the toes 60 33 hallmark (90%) Very frequent (99-80%) HP:0100387
14 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
15 aplasia/hypoplasia of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009601
16 fibular hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003038
17 short tibia 60 33 frequent (33%) Frequent (79-30%) HP:0005736
18 flexion contracture 33 HP:0001371
19 death in infancy 60 Occasional (29-5%)
20 hypoplasia of the ulna 33 HP:0003022
21 aplasia/hypoplasia of the patella 33 HP:0006498
22 hypoplasia of the radius 33 HP:0002984
23 short phalanx of finger 33 HP:0009803
24 pes valgus 33 HP:0008081
25 short humerus 33 HP:0005792
26 acromesomelia 33 HP:0003086
27 short femur 33 HP:0003097
28 short digit 33 HP:0011927
29 valgus hand deformity 33 HP:0006228
30 aplasia/hypoplasia of metatarsal bones 33 HP:0001964

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
short tibia
short radii
short fibulae
short ulna
limb reduction, especially distally (acromesomelia)
more
Skeletal Feet:
short feet
rudimentary phalanges (distal phalanges present)
valgus foot deformity
fused tarsal bone
absent or hypoplastic metatarsal

Growth Height:
short limb dwarfism
average adult male height, 100.5cm
average adult female height, 99.5cm

Skeletal Hands:
postaxial polydactyly
very short digits
rudimentary carpal bones
rudimentary phalanges (distal phalanges present)
valgus hand deformity
more
Neurologic Central Nervous System:
normal intelligence

Clinical features from OMIM:

200700

Drugs & Therapeutics for Chondrodysplasia, Grebe Type

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia, Grebe Type

Genetic Tests for Chondrodysplasia, Grebe Type

Genetic tests related to Chondrodysplasia, Grebe Type:

# Genetic test Affiliating Genes
1 Grebe Syndrome 30 GDF5

Anatomical Context for Chondrodysplasia, Grebe Type

MalaCards organs/tissues related to Chondrodysplasia, Grebe Type:

42
Bone, Skin

Publications for Chondrodysplasia, Grebe Type

Articles related to Chondrodysplasia, Grebe Type:

# Title Authors Year
1
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. ( 26275437 )
2015

Variations for Chondrodysplasia, Grebe Type

UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia, Grebe Type:

76
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Cys400Tyr VAR_017407

ClinVar genetic disease variations for Chondrodysplasia, Grebe Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs74315387 GRCh37 Chromosome 20, 34022014: 34022014
2 GDF5 NM_000557.4(GDF5): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs74315387 GRCh38 Chromosome 20, 35434216: 35434216
3 GDF5 GDF5, 1-BP INS, 297C insertion Pathogenic
4 GDF5 GDF5, 1-BP DEL, 1144G deletion Pathogenic
5 GDF5 NM_000557.2: c.1144del deletion Likely pathogenic GRCh38 Chromosome 20, 35434273: 35434273
6 GDF5 NM_000557.2: c.1144del deletion Likely pathogenic GRCh37 Chromosome 20, 34022069: 34022069

Expression for Chondrodysplasia, Grebe Type

Search GEO for disease gene expression data for Chondrodysplasia, Grebe Type.

Pathways for Chondrodysplasia, Grebe Type

Pathways related to Chondrodysplasia, Grebe Type according to KEGG:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Chondrodysplasia, Grebe Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 BMPR1B GDF5
2 10.58 BMPR1B GDF5

GO Terms for Chondrodysplasia, Grebe Type

Biological processes related to Chondrodysplasia, Grebe Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.37 BMPR1B GDF5
2 BMP signaling pathway GO:0030509 9.32 BMPR1B GDF5
3 cartilage development GO:0051216 9.26 BMPR1B GDF5
4 chondrocyte differentiation GO:0002062 9.16 BMPR1B GDF5
5 positive regulation of chondrocyte differentiation GO:0032332 8.96 BMPR1B GDF5
6 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.62 BMPR1B GDF5

Sources for Chondrodysplasia, Grebe 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
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