MCID: CHN057
MIFTS: 36

Chondrodysplasia, Grebe Type

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

Aliases & Classifications for Chondrodysplasia, Grebe Type

MalaCards integrated aliases for Chondrodysplasia, Grebe Type:

Name: Chondrodysplasia, Grebe Type 57 53 59 13 73
Acromesomelic Dysplasia, Grebe Type 57 12 53 59 15
Grebe Chondrodysplasia 57 12 53 55
Grebe Dysplasia 57 53 37
Grebe Syndrome 53 29 6
Amdg 57 53 75
Chondrodysplasia, Acromesomelic, Type Grebe 40
Acromesomelic Chondrodysplasia, Grebe Type 75
Acromesomelic Dysplasia, Grebe Type; Amdg 57
Achondrogenesis, Type Ii, Formerly 57
Achondrogenesis, Brazilian 57
Brazilian Achondrogenesis 53

Characteristics:

Orphanet epidemiological data:

59
acromesomelic dysplasia, grebe type
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
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:

32
chondrodysplasia, grebe type:
Mortality/Aging death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia, Grebe Type

NIH Rare Diseases : 53 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

OMIM : 57 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 : 75 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.

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.

Related Diseases for Chondrodysplasia, Grebe Type

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



Diseases related to Chondrodysplasia, Grebe Type

Symptoms & Phenotypes for Chondrodysplasia, Grebe Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chondrodysplasia, Grebe Type:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
2 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
6 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
7 sarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100242
8 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
9 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
10 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
11 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
12 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
13 aplasia/hypoplasia of the thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009601
14 aplasia/hypoplasia involving the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005914
15 fibular hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003038
16 short tibia 59 32 frequent (33%) Frequent (79-30%) HP:0005736
17 aplasia of the middle phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0100387
18 flexion contracture 32 HP:0001371
19 death in infancy 59 Occasional (29-5%)
20 hypoplasia of the ulna 32 HP:0003022
21 aplasia/hypoplasia of the patella 32 HP:0006498
22 hypoplasia of the radius 32 HP:0002984
23 short phalanx of finger 32 HP:0009803
24 short humerus 32 HP:0005792
25 acromesomelia 32 HP:0003086
26 short femur 32 HP:0003097
27 pes valgus 32 HP:0008081
28 short digit 32 HP:0011927
29 valgus hand deformity 32 HP:0006228
30 aplasia/hypoplasia of metatarsal bones 32 HP:0001964

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 29 GDF5

Anatomical Context for Chondrodysplasia, Grebe Type

MalaCards organs/tissues related to Chondrodysplasia, Grebe Type:

41
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:

75
# 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 GRCh38 Chromosome 20, 35434216: 35434216
2 GDF5 GDF5, 1-BP INS, 297C insertion Pathogenic
3 GDF5 NM_000557.4(GDF5): c.1199G> A (p.Cys400Tyr) single nucleotide variant Pathogenic rs74315387 GRCh37 Chromosome 20, 34022014: 34022014
4 GDF5 GDF5, 1-BP DEL, 1144G deletion Pathogenic

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:

37
# 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 10.55 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 skeletal system development GO:0001501 9.37 BMPR1B SHOX
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 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.96 BMPR1B GDF5
6 positive regulation of chondrocyte differentiation GO:0032332 8.62 BMPR1B GDF5

Sources for Chondrodysplasia, Grebe 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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