AMD2C
MCID: ACR126
MIFTS: 42

Acromesomelic Dysplasia 2c (AMD2C)

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

MalaCards integrated aliases for Acromesomelic Dysplasia 2c:

Name: Acromesomelic Dysplasia 2c 57 73
Acromesomelic Dysplasia, Hunter-Thompson Type 57 11 58 12 14
Acromesomelic Dysplasia 2c, Hunter-Thompson Type 57 28 5
Acromesomelic Dwarfism 11 58
Amd2c 57 73
Acromesomelic Chondrodysplasia, Hunter-Thompson Type 73
Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson 38
Acromesomelic Dysplasia Hunter Thompson Type 19
Acromesomelic Dysplasia Hunter-Thompson Type 71
Amdh Acromesomelic Dwarfism 57
Acromesomelic Dysplasia-2c 11
Amdh 73

Characteristics:


Inheritance:

Acromesomelic Dysplasia 2c: Autosomal recessive 57
Acromesomelic Dysplasia, Hunter-Thompson Type: Autosomal recessive 58

Prevelance:

Acromesomelic Dysplasia, Hunter-Thompson Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Acromesomelic Dysplasia, Hunter-Thompson Type: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to grebe syndrome , brachydactyly, type c , fibular hypoplasia and complex brachydactyly


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080051
OMIM® 57 201250
OMIM Phenotypic Series 57 PS602875
MeSH 43 D004392
ICD10 via Orphanet 32 Q78.8
UMLS via Orphanet 72 C2930970
Orphanet 58 ORPHA968
UMLS 71 C2930970

Summaries for Acromesomelic Dysplasia 2c

OMIM®: 57 Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (601875). (201250) (Updated 08-Dec-2022)

MalaCards based summary: Acromesomelic Dysplasia 2c, also known as acromesomelic dysplasia, hunter-thompson type, is related to acromesomelic dysplasia 1 and acromesomelic dysplasia. An important gene associated with Acromesomelic Dysplasia 2c is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include hand, foot and bone, and related phenotypes are neurological speech impairment and brachydactyly

GARD: 19 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

Orphanet: 58 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

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). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal.

Disease Ontology: 11 An acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot.

Related Diseases for Acromesomelic Dysplasia 2c

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 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia 1 32.3 NPR2 GDF5
2 acromesomelic dysplasia 31.9 UQCC1 NPR2 GDF5 BMPR1B
3 mesomelia 10.3
4 bone disease 10.2
5 chronic tympanitis 10.2 GDF5 BMPR1B
6 sugarman brachydactyly 10.2 GDF5 BMPR1B
7 klippel-feil syndrome 1 10.2 GDF5 BMPR1B
8 klippel-feil syndrome 10.2 GDF5 BMPR1B
9 brachydactyly, type a1, d 10.1 GDF5 BMPR1B
10 brachydactyly, type a1, c 10.1 GDF5 BMPR1B
11 synostoses, tarsal, carpal, and digital 10.1 GDF5 BMPR1B
12 brachydactyly, type b2 10.1 GDF5 BMPR1B
13 proximal symphalangism 10.1 GDF5 BMPR1B
14 brachydactyly, type c 10.1 GDF5 BMPR1B
15 multiple synostoses syndrome 10.0 GDF5 BMPR1B
16 acrocapitofemoral dysplasia 10.0 NPR2 GDF5
17 acromesomelic dysplasia 2a 9.9 NPR2 GDF5 BMPR1B
18 brachydactyly, type a1 9.9 NPR2 GDF5 BMPR1B
19 brachydactyly 9.9 NPR2 GDF5 BMPR1B
20 mckusick-kaufman syndrome 9.9 MKKS EVC2
21 bone development disease 9.9 NPR2 GDF5 EVC2
22 brachydactyly, type a2 9.8 GDF5 BMPR1B
23 chromosome 2q35 duplication syndrome 9.8 MKKS GDF5 EVC2
24 short-rib thoracic dysplasia 12 9.8 EVC2 C2CD2
25 acromesomelic dysplasia 2b 9.7 UQCC1 NPR2 GDF5 BMPR1B
26 osteochondrodysplasia 9.7 NPR2 GDF5 EVC2 BMPR1B
27 polydactyly 9.6 MKKS GDF5 EVC2

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



Diseases related to Acromesomelic Dysplasia 2c

Symptoms & Phenotypes for Acromesomelic Dysplasia 2c

Human phenotypes related to Acromesomelic Dysplasia 2c:

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002167
2 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
3 bilateral single transverse palmar creases 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007598
4 abnormality of the ankles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003028
5 short thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009778
6 elbow dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003042
7 acromesomelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003086
8 severe short-limb dwarfism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008890
9 tarsal synostosis 30 Hallmark (90%) HP:0008368
10 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
11 joint stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001387
12 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0100543
13 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
14 patellar dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002999
15 cuboidal metacarpal 58 30 Frequent (33%) Frequent (79-30%)
HP:0006011
16 abnormally shaped carpal bones 58 30 Frequent (33%) Frequent (79-30%)
HP:0006014
17 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
18 short metacarpal 58 Frequent (79-30%)
19 hypoplasia of the ulna 30 HP:0003022
20 short foot 30 HP:0001773
21 tarsal synostosis  58 Very frequent (99-80%)
22 hypoplasia of the radius 30 HP:0002984
23 single transverse palmar crease 30 HP:0000954
24 fibular hypoplasia 30 HP:0003038
25 radial bowing 30 HP:0002986
26 short tibia 30 HP:0005736
27 shortening of all middle phalanges of the fingers 30 HP:0006110
28 distal femoral bowing 30 HP:0005096
29 shortening of all proximal phalanges of the fingers 30 HP:0006144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Pelvis:
hip dislocation

Skeletal Hands:
abnormally shaped carpal bones
transverse palmar creases
short thumbs and fingers
nine carpal bones
short, cuboidal metacarpals
more
Skeletal Feet:
short feet
ball-shaped toes

Skeletal Limbs:
radial bowing
short tibia
acromesomelia
distal femoral bowing
short radius
more
Growth Height:
severe short-limb dwarfism

Skin Nails Hair Skin:
transverse palmar creases

Clinical features from OMIM®:

201250 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acromesomelic Dysplasia 2c:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 BMPR1B EVC2 GDF5 MKKS NPR2
2 reproductive system MP:0005389 9.17 BMPR1B CATSPER4 EVC2 GDF5 MKKS NPR2

Drugs & Therapeutics for Acromesomelic Dysplasia 2c

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

Genetic Tests for Acromesomelic Dysplasia 2c

Genetic tests related to Acromesomelic Dysplasia 2c:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia 2c, Hunter-Thompson Type 28 GDF5

Anatomical Context for Acromesomelic Dysplasia 2c

Organs/tissues related to Acromesomelic Dysplasia 2c:

FMA: Hand, Foot
MalaCards : Bone

Publications for Acromesomelic Dysplasia 2c

Articles related to Acromesomelic Dysplasia 2c:

(show all 47)
# Title Authors PMID Year
1
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. 62 57 5
8589725 1996
2
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 62 57 5
2703235 1989
3
Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. 62 57 5
964999 1976
4
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. 62 5
29322508 2018
5
Acromesomelic dwarfism: manifestations in childhood. 62 57
610427 1977
6
Ocular findings in acromesomelic dysplasia. 57
7977608 1994
7
Acromesomelic dysplasia. 57
7433666 1980
8
Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. 57
4850715 1974
9
[Statural deficiency with micromesomelia. Report of 2 familial cases]. 57
5111484 1971
10
SKN-1 regulates stress resistance downstream of amino catabolism pathways. 62
35784796 2022
11
Direct Asymmetric Reductive Amination of Alkyl (Hetero)Aryl Ketones by an Engineered Amine Dehydrogenase. 62
35285128 2022
12
In vivo and in vitro reconstitution of unique key steps in cystobactamid antibiotic biosynthesis. 62
33727542 2021
13
Generation of Oxidoreductases with Dual Alcohol Dehydrogenase and Amine Dehydrogenase Activity. 62
33073866 2021
14
A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant. 62
33854687 2021
15
Biosynthesis of Chiral Amino Alcohols via an Engineered Amine Dehydrogenase in E. coli. 62
35071200 2021
16
Kinetic Resolution of Racemic Primary Amines Using Geobacillus stearothermophilus Amine Dehydrogenase Variant. 62
32802214 2020
17
Generation of amine dehydrogenases with increased catalytic performance and substrate scope from ε-deaminating L-Lysine dehydrogenase. 62
31420547 2019
18
Efficient synthesis of enantiopure amines from alcohols using resting E. coli cells and ammonia. 62
33628111 2019
19
Enhancing cofactor recycling in the bioconversion of racemic alcohols to chiral amines with alcohol dehydrogenase and amine dehydrogenase by coupling cells and cell-free system. 62
30536736 2019
20
Hydrogen-Borrowing Alcohol Bioamination with Coimmobilized Dehydrogenases. 62
29515675 2018
21
Encapsulation of amine dehydrogenase in hybrid titania nanoparticles by polyethylenimine coating and templated biomineralization. 62
27838254 2017
22
Amine dehydrogenases: efficient biocatalysts for the reductive amination of carbonyl compounds. 62
28663713 2017
23
A novel chimeric amine dehydrogenase shows altered substrate specificity compared to its parent enzymes. 62
25347124 2014
24
Genetic dissection of drought and heat tolerance in chickpea through genome-wide and candidate gene-based association mapping approaches. 62
24801366 2014
25
Ellis-van Creveld syndrome in an Indian child: a case report. 62
22232726 2011
26
Serinol: small molecule - big impact. 62
21906364 2011
27
The silent form of quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 62
19270386 2009
28
A novel electrochemical approach to the characterization of oxidoreductase reactions. 62
15293339 2004
29
Ring substituted analogues of 5-aminomethyl-10,11-dihydro-dibenzo[a,d]cycloheptene (AMDH): potential modes of binding to the 5-HT(2A) receptor. 62
12852967 2003
30
Redox properties of quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 62
12686147 2003
31
The active site structure of quinohemoprotein amine dehydrogenase inhibited by p-nitrophenylhydrazine. 62
12686145 2003
32
Spectroelectrochemical evaluation of redox potentials of cysteine tryptophylquinone and two hemes c in quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 62
12427036 2002
33
New pathway of amine oxidation respiratory chain of Paracoccus denitrificans IFO 12442. 62
11168384 2001
34
Characterization of Quinohemoprotein Amine Dehydrogenase from Pseudomonas putida. 62
27315927 1998
35
Acromesomelic dwarfism: report of a family with two affected siblings. 62
9715561 1997
36
Acromesomelic dwarfism: a new variation. 62
9039664 1997
37
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. 62
8281387 1993
38
Vitelline membrane biogenesis in Drosophila requires the activity of the alpha-methyl dopa hypersensitive gene (I(2)amd) in both the germline and follicle cells. 62
8269096 1993
39
Low allozyme variability in Bactrocera albistrigata (Insecta: Diptera: Tephritidae) from Peninsular Malaysia. 62
2147641 1990
40
Acromesomelic dwarfism: Maroteaux-Martinelli-Campailla type. 62
3240250 1988
41
[Acromesomelic dysplasia. Apropos of a new case]. 62
6497557 1984
42
Acromesomelic dwarfism in a child with an interesting family history. 62
6866577 1983
43
Acromesomelic dwarfism. 62
7426926 1980
44
A 59-year-old multiparous woman with acromesomelic dwarfism. 62
677174 1978
45
[Study of the classification of chondrodysplasias with mesomelic predominance]. 62
610660 1977
46
[Acromesomelic dwarfism (author's transl)A1]. 62
133965 1976
47
[Acromesomelic dwarfism]. 62
5000841 1971

Variations for Acromesomelic Dysplasia 2c

ClinVar genetic disease variations for Acromesomelic Dysplasia 2c:

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF5 GDF5, 22-BP DUP DUP Pathogenic
8377 GRCh37:
GRCh38:
2 BMPR1B NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg) SNV Likely Pathogenic
996696 rs1734835445 GRCh37: 4:96070012-96070012
GRCh38: 4:95148861-95148861
3 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
4 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter) SNV Uncertain Significance
816909 rs778394508 GRCh37: 20:34021941-34021941
GRCh38: 20:35434143-35434143
5 GDF5 NM_000557.5(GDF5):c.631+6G>A SNV Uncertain Significance
895609 rs768697784 GRCh37: 20:34025072-34025072
GRCh38: 20:35437292-35437292
6 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain Significance
895610 rs2062477372 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
7 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) SNV Uncertain Significance
895673 rs542574339 GRCh37: 20:34025503-34025503
GRCh38: 20:35437723-35437723
8 LOC109461476, GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain Significance
895743 rs960967052 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
9 LOC109461476, GDF5 NM_000557.5(GDF5):c.-134C>G SNV Uncertain Significance
896024 rs144924248 GRCh37: 20:34025842-34025842
GRCh38: 20:35438062-35438062
10 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain Significance
897084 rs1601074882 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
11 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
12 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain Significance
897014 rs752789551 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
13 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain Significance
897561 rs746980493 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
14 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain Significance
595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
15 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*259G>C SNV Uncertain Significance
895466 rs150833046 GRCh37: 20:34021448-34021448
GRCh38: 20:35433650-35433650
16 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain Significance
895672 rs768978933 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
17 LOC109461476, GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain Significance
898778 rs1190526111 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
18 LOC109461476, GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain Significance
338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
19 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
20 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) SNV Uncertain Significance
338323 rs199666386 GRCh37: 20:34025541-34025541
GRCh38: 20:35437761-35437761
21 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain Significance
338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
22 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
23 GDF5 NM_000557.5(GDF5):c.462C>A (p.Pro154=) SNV Likely Benign
193119 rs150686636 GRCh37: 20:34025247-34025247
GRCh38: 20:35437467-35437467
24 LOC109461476, GDF5 NM_000557.5(GDF5):c.-39C>T SNV Likely Benign
338325 rs149907722 GRCh37: 20:34025747-34025747
GRCh38: 20:35437967-35437967
25 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
26 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*520T>C SNV Likely Benign
338309 rs188252641 GRCh37: 20:34021187-34021187
GRCh38: 20:35433389-35433389
27 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
28 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*387T>C SNV Likely Benign
338312 rs553655935 GRCh37: 20:34021320-34021320
GRCh38: 20:35433522-35433522
29 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*389C>T SNV Likely Benign
338311 rs535023630 GRCh37: 20:34021318-34021318
GRCh38: 20:35433520-35433520
30 GDF5 NM_000557.5(GDF5):c.652A>C (p.Arg218=) SNV Likely Benign
284616 rs116467702 GRCh37: 20:34022561-34022561
GRCh38: 20:35434763-35434763
31 GDF5 NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) SNV Benign
338322 rs151149144 GRCh37: 20:34025360-34025360
GRCh38: 20:35437580-35437580
32 GDF5 NM_000557.5(GDF5):c.497C>A (p.Pro166His) SNV Benign
338321 rs61754581 GRCh37: 20:34025212-34025212
GRCh38: 20:35437432-35437432
33 LOC109461476, GDF5 NM_000557.5(GDF5):c.-275= SNV Benign
8390 rs143383 GRCh37: 20:34025983-34025983
GRCh38: 20:35438203-35438203
34 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*468G>A SNV Benign
895403 rs79051206 GRCh37: 20:34021239-34021239
GRCh38: 20:35433441-35433441
35 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*335A>C SNV Benign
338313 rs73611720 GRCh37: 20:34021372-34021372
GRCh38: 20:35433574-35433574
36 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*193G>T SNV Benign
338314 rs114832948 GRCh37: 20:34021514-34021514
GRCh38: 20:35433716-35433716
37 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.*425T>C SNV Benign
338310 rs56366915 GRCh37: 20:34021282-34021282
GRCh38: 20:35433484-35433484
38 LOC109461476, GDF5 NM_000557.5(GDF5):c.-135G>A SNV Benign
338326 rs73094730 GRCh37: 20:34025843-34025843
GRCh38: 20:35438063-35438063
39 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1017= (p.Lys339=) SNV Benign
256713 rs224330 GRCh37: 20:34022196-34022196
GRCh38: 20:35434398-35434398
40 LOC109461476, GDF5 NM_000557.5(GDF5):c.-48= SNV Benign
256712 rs143384 GRCh37: 20:34025756-34025756
GRCh38: 20:35437976-35437976
41 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.826= (p.Ala276=) SNV Benign
256716 rs224331 GRCh37: 20:34022387-34022387
GRCh38: 20:35434589-35434589
42 GDF5-AS1, GDF5 NM_000557.5(GDF5):c.1128G>T (p.Gln376His) SNV Benign
338316 rs138130158 GRCh37: 20:34022085-34022085
GRCh38: 20:35434287-35434287

Expression for Acromesomelic Dysplasia 2c

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

Pathways for Acromesomelic Dysplasia 2c

GO Terms for Acromesomelic Dysplasia 2c

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of chondrocyte differentiation GO:0032332 9.46 GDF5 BMPR1B
2 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.96 GDF5 BMPR1B
3 cartilage development GO:0051216 8.92 MKKS GDF5 BMPR1B

Molecular functions related to Acromesomelic Dysplasia 2c 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 2c

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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