AMD2A
MCID: ACR125
MIFTS: 49

Acromesomelic Dysplasia 2a (AMD2A)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Acromesomelic Dysplasia 2a

MalaCards integrated aliases for Acromesomelic Dysplasia 2a:

Name: Acromesomelic Dysplasia 2a 57 73
Chondrodysplasia, Grebe Type 57 19 58 75 12 71
Acromesomelic Dysplasia, Grebe Type 57 11 19 58 14
Grebe Chondrodysplasia 57 11 19 53
Grebe Syndrome 19 28 5
Amdg 57 19 73
Grebe Dysplasia 57 19
Amd2a 57 73
Acromesomelic Chondrodysplasia, Grebe Type 73
Achondrogenesis, Type Ii, Formerly 57
Achondrogenesis, Brazilian 57
Acromesomelic Dysplasia-2a 11
Brazilian Achondrogenesis 19
Achondrogenesis Type Ii 19

Characteristics:


Inheritance:

Acromesomelic Dysplasia 2a: Autosomal recessive 57
Acromesomelic Dysplasia, Grebe Type: Autosomal recessive 58

Age Of Onset:

Acromesomelic Dysplasia, Grebe Type: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080052
OMIM® 57 200700
OMIM Phenotypic Series 57 PS602875
MeSH 43 D004392
ICD10 via Orphanet 32 Q78.8
UMLS via Orphanet 72 C0265260
Orphanet 58 ORPHA2098
MedGen 40 C0265260
UMLS 71 C0265260

Summaries for Acromesomelic Dysplasia 2a

OMIM®: 57 Acromesomelic dysplasia-2A (AMD2A), or 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). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998). For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). (200700) (Updated 08-Dec-2022)

MalaCards based summary: Acromesomelic Dysplasia 2a, also known as chondrodysplasia, grebe type, is related to acromesomelic dysplasia 2c and acromesomelic dysplasia 1. An important gene associated with Acromesomelic Dysplasia 2a is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are ERK Signaling and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, skin and heart, and related phenotypes are skeletal dysplasia and bowing of the long bones

UniProtKB/Swiss-Prot: 73 A form of acromesomelic dysplasia, a skeletal disorder 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). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

GARD: 19 A rare autosomal recessive acromesomelic dysplasia 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, facial features and intelligence are normal.

Orphanet: 58 A rare autosomal recessive acromesomelic dysplasia 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, facial features and intelligence are normal.

Disease Ontology: 11 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.

Wikipedia: 75 Chondrodysplasia Grebe type is a rare genetic disorder. It is caused by a mutation to the GDF5 gene.... more...

Related Diseases for Acromesomelic Dysplasia 2a

Diseases in the Acromesomelic Dysplasia family:

Acromesomelic Dysplasia 2a Acromesomelic Dysplasia 2c
Acromesomelic Dysplasia 2b Acromesomelic Dysplasia 1
Acromesomelic Dysplasia 3 Acromesomelic Dysplasia 4

Diseases related to Acromesomelic Dysplasia 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia 2c 32.2 NPR2 GDF5 BMPR1B
2 acromesomelic dysplasia 1 32.0 NPR2 GDF5 COL2A1
3 brachydactyly, type c 30.1 GDF5-AS1 GDF5 COL2A1 BMPR1B
4 cartilage disease 30.1 GDF5 COL2A1
5 acromesomelic dysplasia 2b 30.1 NPR2 GDF5-AS1 GDF5 BMPR1B
6 acromesomelic dysplasia 29.9 NPR2 GDF5 COL2A1 BMPR1B
7 brachydactyly 29.9 NPR2 GDF5 COL2A1 BMPR1B
8 osteochondrodysplasia 29.8 NPR2 GDF5 COL2A1 BMPR1B
9 achondrogenesis, type ii 11.9
10 hypochondrogenesis 11.3
11 achondrogenesis 10.7
12 type ii collagen disorders 10.5
13 cystic lymphangioma 10.3
14 multiple synostoses syndrome 2 10.2 GDF5-AS1 GDF5
15 chronic tympanitis 10.2 GDF5 BMPR1B
16 sugarman brachydactyly 10.2 GDF5 BMPR1B
17 multiple synostoses syndrome 10.2 GDF5 BMPR1B
18 klippel-feil syndrome 1 10.2 GDF5 BMPR1B
19 klippel-feil syndrome 10.2 GDF5 BMPR1B
20 brachydactyly, type a1, d 10.2 GDF5 BMPR1B
21 symphalangism, proximal, 1b 10.2 GDF5-AS1 GDF5
22 kniest dysplasia 10.2
23 polyhydramnios 10.2
24 synostoses, tarsal, carpal, and digital 10.2 GDF5 BMPR1B
25 brachydactyly, type b2 10.2 GDF5 BMPR1B
26 calcific tendinitis 10.2 SCX GDF5
27 proximal symphalangism 10.2 GDF5 BMPR1B
28 brachydactyly, type a1, c 10.1 GDF5-AS1 GDF5 BMPR1B
29 uvula, bifid 10.1
30 tooth agenesis 10.1
31 myopia 10.1
32 brachydactyly, type a2 10.1 GDF5-AS1 GDF5 BMPR1B
33 lacrimoauriculodentodigital syndrome 10.1 SCX GDF5
34 coarctation of aorta 10.0
35 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
36 polydactyly, postaxial, type a1 10.0
37 hydrops fetalis, nonimmune 10.0
38 polydactyly 10.0
39 scoliosis 10.0
40 bone disease 10.0
41 spondyloepimetaphyseal dysplasia 10.0
42 stickler syndrome 10.0
43 microtia 10.0
44 fibrochondrogenesis 10.0 GDF5 COL2A1
45 exostosis 10.0 GDF5 COL2A1
46 acrocapitofemoral dysplasia 10.0 NPR2 GDF5
47 fibrodysplasia ossificans progressiva 10.0 SMAD5 SCX BMPR1B
48 heart disease 10.0
49 fibular hemimelia 10.0
50 metatarsus adductus 10.0

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia 2a:



Diseases related to Acromesomelic Dysplasia 2a

Symptoms & Phenotypes for Acromesomelic Dysplasia 2a

Human phenotypes related to Acromesomelic Dysplasia 2a:

58 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
2 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
3 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
4 short toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001831
5 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
6 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
7 sarcoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100242
8 synostosis of carpal bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005048
9 short foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001773
10 disproportionate short-limb short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008873
11 aplasia/hypoplasia involving the metacarpal bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005914
12 aplasia of the middle phalanges of the toes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100387
13 tarsal synostosis 30 Hallmark (90%) HP:0008368
14 postaxial hand polydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001162
15 aplasia/hypoplasia of the thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0009601
16 fibular hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003038
17 short tibia 58 30 Frequent (33%) Frequent (79-30%)
HP:0005736
18 flexion contracture 30 HP:0001371
19 death in infancy 58 Occasional (29-5%)
20 hypoplasia of the ulna 30 HP:0003022
21 tarsal synostosis  58 Very frequent (99-80%)
22 hypoplasia of the radius 30 HP:0002984
23 aplasia/hypoplasia of the patella 30 HP:0006498
24 short phalanx of finger 30 HP:0009803
25 short humerus 30 HP:0005792
26 acromesomelia 30 HP:0003086
27 short femur 30 HP:0003097
28 pes valgus 30 HP:0008081
29 short digit 30 HP:0011927
30 aplasia/hypoplasia of metatarsal bones 30 HP:0001964
31 valgus hand deformity 30 HP:0006228

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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
valgus hand deformity
very short digits
rudimentary carpal bones
rudimentary phalanges (distal phalanges present)
more
Neurologic Central Nervous System:
normal intelligence

Clinical features from OMIM®:

200700 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acromesomelic Dysplasia 2a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.87 BMP10 BMPR1B COL2A1 SCX SMAD5 SOX12
2 limbs/digits/tail MP:0005371 9.8 BMP10 BMPR1B COL2A1 GDF5 NPR2 SCX
3 embryo MP:0005380 9.7 BMP10 BMPR1B COL2A1 GDF5 SCX SMAD5
4 craniofacial MP:0005382 9.35 BMPR1B COL2A1 NPR2 SMAD5 SOX12
5 skeleton MP:0005390 9.17 BMPR1B COL2A1 GDF5 NPR2 SCX SMAD5

Drugs & Therapeutics for Acromesomelic Dysplasia 2a

Search Clinical Trials, NIH Clinical Center for Acromesomelic Dysplasia 2a

Genetic Tests for Acromesomelic Dysplasia 2a

Genetic tests related to Acromesomelic Dysplasia 2a:

# Genetic test Affiliating Genes
1 Grebe Syndrome 28 GDF5

Anatomical Context for Acromesomelic Dysplasia 2a

Organs/tissues related to Acromesomelic Dysplasia 2a:

MalaCards : Bone, Skin, Heart

Publications for Acromesomelic Dysplasia 2a

Articles related to Acromesomelic Dysplasia 2a:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. 62 57 5
9288098 1997
2
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. 62 5
12900894 2003
3
Grebe syndrome in Vietnamese sisters: not Agent Orange. 62 57
11168021 2001
4
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers. 62 57
9489798 1998
5
Severe short-limb dwarfism resembling Grebe chondrodysplasia. 62 57
3793102 1986
6
Heterozygote expression in Grebe chondrodysplasia. 62 57
3742853 1986
7
Grebe chondrodysplasia and brachydactyly in a family. 62 57
6705242 1984
8
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. 5
12124730 2002
9
Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2. 57
8661040 1996
10
Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. 57
1185402 1975
11
A rare genetic syndrome. 57
4173015 1968
12
A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES. 57
14159881 1964
13
Grebe dysplasia and the spectrum of CDMP1 mutations. 53 62
12687891 2003
14
Novel missense COL2A1 variant in a fetus with achondrogenesis type II. 62
36376277 2022
15
Evaluation of the Efficacy of Mineralized Dentin Graft in the Treatment of Intraosseous Defects: An Experimental In Vivo Study. 62
35056411 2022
16
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions. 62
34573377 2021
17
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. 62
33316082 2021
18
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography. 62
33070083 2021
19
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 62
31392067 2019
20
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families. 62
27577507 2017
21
Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs. 62
27677752 2017
22
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5. 62
26275437 2016
23
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 62
26443184 2016
24
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population. 62
26870132 2015
25
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 62
26105076 2015
26
Stickler syndrome associated with epilepsy: report of three cases. 62
25809783 2015
27
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 62
25823796 2015
28
Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype. 62
25337439 2014
29
Grebe syndrome: a rare association with congenital heart disease. 62
22482388 2012
30
Grebe syndrome. 62
21048264 2010
31
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. 62
20583175 2010
32
Antenatal diagnosis of achondrogenesis type II. 62
20387359 2009
33
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 62
19522446 2009
34
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. 62
19072565 2008
35
Visceral manifestations of hypochondrogenesis. 62
18642028 2008
36
Achondrogenesis type II with cutaneous hamartomata. 62
18541971 2008
37
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 62
17994563 2007
38
Prenatal sonographic diagnosis of Grebe syndrome. 62
16371562 2006
39
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). 62
15574381 2005
40
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. 62
15054848 2004
41
Do airport metal detectors interfere with implantable pacemakers or cardioverter-defibrillators? 62
12798581 2003
42
Achondrogenesis type II with normally developed extremities: a case report. 62
12124695 2002
43
Grebe syndrome with bilateral fibular hemimelia and thumb duplication. 62
11935206 2002
44
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. 62
11730591 2001
45
Vietnamese sisters with Grebe syndrome on a TV program in Japan. 62
11846743 2001
46
[Grebe syndrome]. 62
11462677 2001
47
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. 62
11481990 2001
48
Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features. 62
11297324 2001
49
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. 62
11069003 2000
50
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. 62
10929597 2000

Variations for Acromesomelic Dysplasia 2a

ClinVar genetic disease variations for Acromesomelic Dysplasia 2a:

5 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) SNV Pathogenic
8379 rs74315387 GRCh37: 20:34022014-34022014
GRCh38: 20:35434216-35434216
2 GDF5 NM_000557.5(GDF5):c.297dup (p.Arg100fs) DUP Pathogenic
8380 rs761962752 GRCh37: 20:34025411-34025412
GRCh38: 20:35437631-35437632
3 GDF5 NM_000557.5(GDF5):c.404del (p.Pro135fs) DEL Pathogenic
992498 GRCh37: 20:34025305-34025305
GRCh38: 20:35437525-35437525
4 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1144del (p.Ala382fs) DEL Pathogenic/Likely Pathogenic
623302 rs1568731526 GRCh37: 20:34022069-34022069
GRCh38: 20:35434271-35434271
5 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) SNV Uncertain Significance
828159 rs758630897 GRCh37: 20:34022132-34022132
GRCh38: 20:35434334-35434334
6 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*259G>C SNV Uncertain Significance
895466 rs150833046 GRCh37: 20:34021448-34021448
GRCh38: 20:35433650-35433650
7 GDF5 NM_000557.5(GDF5):c.631+6G>A SNV Uncertain Significance
895609 rs768697784 GRCh37: 20:34025072-34025072
GRCh38: 20:35437292-35437292
8 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain Significance
895610 rs2062477372 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
9 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) SNV Uncertain Significance
895673 rs542574339 GRCh37: 20:34025503-34025503
GRCh38: 20:35437723-35437723
10 LOC109461476, GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain Significance
895743 rs960967052 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
11 LOC109461476, GDF5 NM_000557.5(GDF5):c.-134C>G SNV Uncertain Significance
896024 rs144924248 GRCh37: 20:34025842-34025842
GRCh38: 20:35438062-35438062
12 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain Significance
896867 rs776415223 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
13 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain Significance
897014 rs752789551 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
14 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain Significance
897561 rs746980493 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
15 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain Significance
895672 rs768978933 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
16 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain Significance
595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
17 LOC109461476, GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain Significance
898778 rs1190526111 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
18 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1104C>T (p.Thr368=) SNV Uncertain Significance
338317 rs748907807 GRCh37: 20:34022109-34022109
GRCh38: 20:35434311-35434311
19 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) SNV Uncertain Significance
338323 rs199666386 GRCh37: 20:34025541-34025541
GRCh38: 20:35437761-35437761
20 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain Significance
338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
21 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain Significance
895535 rs367914931 GRCh37: 20:34022146-34022146
GRCh38: 20:35434348-35434348
22 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV Uncertain Significance
338320 rs149593773 GRCh37: 20:34022358-34022358
GRCh38: 20:35434560-35434560
23 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain Significance
897084 rs1601074882 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
24 LOC109461476, GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain Significance
338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
25 GDF5 NM_000557.5(GDF5):c.652A>C (p.Arg218=) SNV Likely Benign
284616 rs116467702 GRCh37: 20:34022561-34022561
GRCh38: 20:35434763-35434763
26 GDF5 NM_000557.5(GDF5):c.462C>A (p.Pro154=) SNV Likely Benign
193119 rs150686636 GRCh37: 20:34025247-34025247
GRCh38: 20:35437467-35437467
27 LOC109461476, GDF5 NM_000557.5(GDF5):c.-39C>T SNV Likely Benign
338325 rs149907722 GRCh37: 20:34025747-34025747
GRCh38: 20:35437967-35437967
28 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) SNV Likely Benign
338319 rs201590447 GRCh37: 20:34022260-34022260
GRCh38: 20:35434462-35434462
29 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) SNV Likely Benign
338318 rs140895068 GRCh37: 20:34022213-34022213
GRCh38: 20:35434415-35434415
30 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*389C>T SNV Likely Benign
338311 rs535023630 GRCh37: 20:34021318-34021318
GRCh38: 20:35433520-35433520
31 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*387T>C SNV Likely Benign
338312 rs553655935 GRCh37: 20:34021320-34021320
GRCh38: 20:35433522-35433522
32 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*520T>C SNV Likely Benign
338309 rs188252641 GRCh37: 20:34021187-34021187
GRCh38: 20:35433389-35433389
33 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*335A>C SNV Benign
338313 rs73611720 GRCh37: 20:34021372-34021372
GRCh38: 20:35433574-35433574
34 LOC109461476, GDF5 NM_000557.5(GDF5):c.-48= SNV Benign
256712 rs143384 GRCh37: 20:34025756-34025756
GRCh38: 20:35437976-35437976
35 LOC109461476, GDF5 NM_000557.5(GDF5):c.-135G>A SNV Benign
338326 rs73094730 GRCh37: 20:34025843-34025843
GRCh38: 20:35438063-35438063
36 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*425T>C SNV Benign
338310 rs56366915 GRCh37: 20:34021282-34021282
GRCh38: 20:35433484-35433484
37 GDF5 NM_000557.5(GDF5):c.497C>A (p.Pro166His) SNV Benign
338321 rs61754581 GRCh37: 20:34025212-34025212
GRCh38: 20:35437432-35437432
38 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1128G>T (p.Gln376His) SNV Benign
338316 rs138130158 GRCh37: 20:34022085-34022085
GRCh38: 20:35434287-35434287
39 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*193G>T SNV Benign
338314 rs114832948 GRCh37: 20:34021514-34021514
GRCh38: 20:35433716-35433716
40 LOC109461476, GDF5 NM_000557.5(GDF5):c.-275= SNV Benign
8390 rs143383 GRCh37: 20:34025983-34025983
GRCh38: 20:35438203-35438203
41 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1017= (p.Lys339=) SNV Benign
256713 rs224330 GRCh37: 20:34022196-34022196
GRCh38: 20:35434398-35434398
42 GDF5 NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) SNV Benign
338322 rs151149144 GRCh37: 20:34025360-34025360
GRCh38: 20:35437580-35437580
43 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.826= (p.Ala276=) SNV Benign
256716 rs224331 GRCh37: 20:34022387-34022387
GRCh38: 20:35434589-35434589
44 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*468G>A SNV Benign
895403 rs79051206 GRCh37: 20:34021239-34021239
GRCh38: 20:35433441-35433441

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia 2a:

73
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Cys400Tyr VAR_017407 rs74315387

Expression for Acromesomelic Dysplasia 2a

Search GEO for disease gene expression data for Acromesomelic Dysplasia 2a.

Pathways for Acromesomelic Dysplasia 2a

Pathways related to Acromesomelic Dysplasia 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 SOX15 SOX12 SMAD5 GDF5 COL2A1 BMPR1B
2
Show member pathways
11.94 SMAD5 BMPR1B BMP10
3
Show member pathways
11.83 SMAD5 BMPR1B BMP10
4
Show member pathways
10.95 SMAD5 BMPR1B BMP10
5 10.14 SMAD5 BMPR1B BMP10

GO Terms for Acromesomelic Dysplasia 2a

Biological processes related to Acromesomelic Dysplasia 2a according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 10 SOX15 SOX12 SMAD5
2 SMAD protein signal transduction GO:0060395 9.88 SMAD5 GDF5 BMP10
3 positive regulation of cartilage development GO:0061036 9.85 BMP10 BMPR1B SCX
4 endochondral ossification GO:0001958 9.84 SCX COL2A1
5 tissue homeostasis GO:0001894 9.81 SCX COL2A1
6 cartilage condensation GO:0001502 9.8 COL2A1 BMPR1B
7 cartilage development GO:0051216 9.8 SMAD5 GDF5 COL2A1 BMPR1B
8 positive regulation of chondrocyte differentiation GO:0032332 9.78 GDF5 BMPR1B
9 ossification GO:0001503 9.73 SMAD5 NPR2 COL2A1
10 bone development GO:0060348 9.73 SMAD5 NPR2 COL2A1 BMPR1B
11 chondrocyte differentiation GO:0002062 9.7 SCX GDF5 COL2A1 BMPR1B
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.46 GDF5 BMPR1B
13 cellular response to BMP stimulus GO:0071773 9.43 SMAD5 SCX COL2A1 BMPR1B
14 BMP signaling pathway GO:0030509 9.32 SMAD5 SCX GDF5 BMPR1B BMP10

Molecular functions related to Acromesomelic Dysplasia 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP binding GO:0036122 8.92 GDF5 BMPR1B

Sources for Acromesomelic Dysplasia 2a

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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