MCID: ACR009
MIFTS: 34

Acromesomelic Dysplasia, Hunter-Thompson Type

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

Aliases & Classifications for Acromesomelic Dysplasia, Hunter-Thompson Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Hunter-Thompson Type:

Name: Acromesomelic Dysplasia, Hunter-Thompson Type 57 12 59 13 15 40
Acromesomelic Dysplasia Hunter Thompson Type 53 29 6
Acromesomelic Dwarfism 57 12 59
Amdh 57 75
Acromesomelic Chondrodysplasia, Hunter-Thompson Type 75
Acromesomelic Dysplasia Hunter-Thompson Type 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to grebe syndrome , brachydactyly, type c , fibular hypoplasia and complex brachydactyly


HPO:

32
acromesomelic dysplasia, hunter-thompson type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201250
Disease Ontology 12 DOID:0080051
Orphanet 59 ORPHA968
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 74 C2930970
MeSH 44 D004392
UMLS 73 C2930970

Summaries for Acromesomelic Dysplasia, Hunter-Thompson 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: 968Disease definitionAcromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) 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 (see these terms), facial features and intelligence are normal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acromesomelic Dysplasia, Hunter-Thompson Type, also known as acromesomelic dysplasia hunter thompson type, is related to acromesomelic dysplasia and acromesomelic dysplasia, maroteaux type. An important gene associated with Acromesomelic Dysplasia, Hunter-Thompson Type is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are Hippo signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include h, foot and bone, and related phenotypes are brachydactyly and joint stiffness

Disease Ontology : 12 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.

OMIM : 57 The Hunter-Thompson type of acromesomelic dysplasia 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). (201250)

UniProtKB/Swiss-Prot : 75 Acromesomelic chondrodysplasia, Hunter-Thompson type: An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

Related Diseases for Acromesomelic Dysplasia, Hunter-Thompson Type

Diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia 31.9 BMPR1B GDF5
2 acromesomelic dysplasia, maroteaux type 11.4
3 brachydactyly, type c 9.6 BMPR1B GDF5
4 chondrodysplasia, grebe type 9.6 BMPR1B GDF5
5 fibular hypoplasia and complex brachydactyly 9.6 BMPR1B GDF5
6 brachydactyly, type a1 9.5 BMPR1B GDF5
7 brachydactyly, type a2 9.4 BMPR1B GDF5
8 proximal symphalangism 9.3 BMPR1B GDF5
9 multiple synostoses syndrome 9.2 BMPR1B GDF5
10 brachydactyly 9.0 BMPR1B GDF5

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type:



Diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type

Symptoms & Phenotypes for Acromesomelic Dysplasia, Hunter-Thompson Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acromesomelic Dysplasia, Hunter-Thompson Type:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
2 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
3 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
6 patellar dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002999
7 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
8 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
9 acromesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003086
10 cuboidal metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0006011
11 abnormally shaped carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0006014
12 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
13 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
14 severe short-limb dwarfism 59 32 hallmark (90%) Very frequent (99-80%) HP:0008890
15 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
16 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
17 abnormality of pelvic girdle bone morphology 59 Frequent (79-30%)
18 short metacarpal 59 Frequent (79-30%)
19 single transverse palmar crease 32 HP:0000954
20 short foot 32 HP:0001773
21 hypoplasia of the radius 32 HP:0002984
22 radial bowing 32 HP:0002986
23 hypoplasia of the ulna 32 HP:0003022
24 fibular hypoplasia 32 HP:0003038
25 distal femoral bowing 32 HP:0005096
26 short tibia 32 HP:0005736
27 shortening of all middle phalanges of the fingers 32 HP:0006110
28 shortening of all proximal phalanges of the fingers 32 HP:0006144

Drugs & Therapeutics for Acromesomelic Dysplasia, Hunter-Thompson Type

Search Clinical Trials , NIH Clinical Center for Acromesomelic Dysplasia, Hunter-Thompson Type

Genetic Tests for Acromesomelic Dysplasia, Hunter-Thompson Type

Genetic tests related to Acromesomelic Dysplasia, Hunter-Thompson Type:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia Hunter Thompson Type 29 GDF5

Anatomical Context for Acromesomelic Dysplasia, Hunter-Thompson Type

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

19
H, Foot

MalaCards organs/tissues related to Acromesomelic Dysplasia, Hunter-Thompson Type:

41
Bone

Publications for Acromesomelic Dysplasia, Hunter-Thompson Type

Articles related to Acromesomelic Dysplasia, Hunter-Thompson Type:

# Title Authors Year
1
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. ( 29322508 )
2018

Variations for Acromesomelic Dysplasia, Hunter-Thompson Type

ClinVar genetic disease variations for Acromesomelic Dysplasia, Hunter-Thompson Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 GDF5, 22-BP DUP duplication Pathogenic

Expression for Acromesomelic Dysplasia, Hunter-Thompson Type

Search GEO for disease gene expression data for Acromesomelic Dysplasia, Hunter-Thompson Type.

Pathways for Acromesomelic Dysplasia, Hunter-Thompson Type

Pathways related to Acromesomelic Dysplasia, Hunter-Thompson 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 Acromesomelic Dysplasia, Hunter-Thompson Type

Biological processes related to Acromesomelic Dysplasia, Hunter-Thompson Type according to GeneCards Suite gene sharing:

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

Sources for Acromesomelic Dysplasia, Hunter-Thompson 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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