AMDH
MCID: ACR009
MIFTS: 34

Acromesomelic Dysplasia, Hunter-Thompson Type (AMDH)

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

Aliases & Classifications for Acromesomelic Dysplasia, Hunter-Thompson Type

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

Name: Acromesomelic Dysplasia, Hunter-Thompson Type 58 12 60 13 15 41
Acromesomelic Dysplasia Hunter Thompson Type 54 30 6
Acromesomelic Dwarfism 58 12 60
Amdh 58 76
Acromesomelic Chondrodysplasia, Hunter-Thompson Type 76
Acromesomelic Dysplasia Hunter-Thompson Type 74

Characteristics:

Orphanet epidemiological data:

60
acromesomelic dysplasia, hunter-thompson type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
acromesomelic dysplasia, hunter-thompson type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080051
OMIM 58 201250
MeSH 45 D004392
ICD10 via Orphanet 35 Q78.8
UMLS via Orphanet 75 C2930970
Orphanet 60 ORPHA968
UMLS 74 C2930970

Summaries for Acromesomelic Dysplasia, Hunter-Thompson 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: 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 bone, foot and h, and related phenotypes are neurological speech impairment and brachydactyly

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 : 58 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 : 76 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia 32.6 BMPR1B GDF5
2 acromesomelic dysplasia, maroteaux type 11.6
3 dwarfism 10.6
4 chondrodysplasia, grebe type 9.8 BMPR1B GDF5
5 fibular hypoplasia and complex brachydactyly 9.8 BMPR1B GDF5
6 brachydactyly 9.8 BMPR1B GDF5
7 proximal symphalangism 9.7 BMPR1B GDF5
8 brachydactyly, type c 9.7 BMPR1B GDF5
9 brachydactyly, type a1 9.7 BMPR1B GDF5
10 brachydactyly, type a2 9.6 BMPR1B GDF5
11 multiple synostoses syndrome 9.5 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

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
2 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
3 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
4 elbow dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003042
5 abnormality of the ankles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003028
6 tarsal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008368
7 short thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009778
8 acromesomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003086
9 severe short-limb dwarfism 60 33 hallmark (90%) Very frequent (99-80%) HP:0008890
10 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
11 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
12 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
13 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
14 patellar dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002999
15 cuboidal metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0006011
16 abnormally shaped carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0006014
17 short foot 33 HP:0001773
18 abnormality of pelvic girdle bone morphology 60 Frequent (79-30%)
19 hypoplasia of the ulna 33 HP:0003022
20 short metacarpal 60 Frequent (79-30%)
21 hypoplasia of the radius 33 HP:0002984
22 single transverse palmar crease 33 HP:0000954
23 fibular hypoplasia 33 HP:0003038
24 radial bowing 33 HP:0002986
25 short tibia 33 HP:0005736
26 shortening of all middle phalanges of the fingers 33 HP:0006110
27 distal femoral bowing 33 HP:0005096
28 shortening of all proximal phalanges of the fingers 33 HP:0006144

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GDF5

Anatomical Context for Acromesomelic Dysplasia, Hunter-Thompson Type

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

42
Bone

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

20
Foot, H

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 10.58 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 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 Acromesomelic Dysplasia, Hunter-Thompson 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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