Angel-Shaped Phalangoepiphyseal Dysplasia (ASPED)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Angel-Shaped Phalangoepiphyseal Dysplasia

MalaCards integrated aliases for Angel-Shaped Phalangoepiphyseal Dysplasia:

Name: Angel-Shaped Phalangoepiphyseal Dysplasia 57
Angel Shaped Phalangoepiphyseal Dysplasia 53 37 73
Asped 57 53 59
Angel-Shaped Phalango-Epiphyseal Dysplasia 53 59


Orphanet epidemiological data:

angel-shaped phalango-epiphyseal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;


External Ids:

OMIM 57 105835
Orphanet 59 ORPHA63442
UMLS via Orphanet 74 C1739384
ICD10 via Orphanet 34 Q78.8
MedGen 42 C1739384
KEGG 37 H00483
UMLS 73 C1739384

Summaries for Angel-Shaped Phalangoepiphyseal Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 63442Disease definitionAngel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.EpidemiologyThe prevalence is unknown. ASPED is a rare disease with less than 20 cases reported in the literature to date, however, it is likely underdiagnosed.Clinical descriptionClinical manifestations in ASPED are not only restricted to the hands, and the original description reported various combinations of angel-shaped middle phalanges, hip dysplasia and dental anomalies (hypodontia). Patient stature ranges from short to normal. Hip dysplasia gives rise to premature or severe osteoarthritis causing severe intermittent hip pain. Non-specific brachydactyly and hyperextensible interphalangeal joints have been reported, as well as delayed bone age. Delayed dentition, abnormally placed teeth, premature loss of teeth, abnormal enamel, and malocclusion have also been described in some.EtiologyASPED is caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis.Diagnostic methodsDiagnostic methods include skeletal x-rays, showing the typical radiological features of ASPED, along with GDF5 molecular analysis, which confirms diagnosis. Angel-shaped middle phalanges are usually an isolated bone anomaly, and are shaped like ''Christmas tree angels'', with the wings formed by the diaphyseal cuff of bone surrounding the phalanx, the skirt by a cone-shaped epiphysis, and the head by the distal pseudoepiphysis. Angel-shaped phalanges can be difficult to find in adults. However, they can be associated with dental anomalies, hip dysplasia and short stature.Differential diagnosisThe main clinical differential diagnosis is Brachydactyly type C (see this term), which is also associated with a GDF5 mutation, suggesting that both syndromes may be part of the same clinical spectrum.Antenatal diagnosisAs ASPED is not a serious condition, prenatal diagnosis is not offered.Genetic counselingASPED is transmitted as an autosomal dominant condition and genetic counseling is possible. Clinical variability and low penetrance have been reported.Management and treatmentTreatment may involve orthopedic management (i.e. hip arthroplasty), and plastic surgery (when thumb involvement is very severe or if syndactyly is associated). In patients with severe hip involvement, walking aids may be required. Dental anomalies may require orthodontic management.PrognosisASPED does not affect life-expectancy and the prognosis is good. Quality of life is reduced in those with untreated and severe coxarthrosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Angel-Shaped Phalangoepiphyseal Dysplasia, also known as angel shaped phalangoepiphyseal dysplasia, is related to alveolar soft part sarcoma and uncombable hair syndrome 1. An important gene associated with Angel-Shaped Phalangoepiphyseal Dysplasia is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include bone, lung and kidney, and related phenotypes are abnormality of epiphysis morphology and hip dysplasia

Description from OMIM: 105835

Related Diseases for Angel-Shaped Phalangoepiphyseal Dysplasia

Diseases related to Angel-Shaped Phalangoepiphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 alveolar soft part sarcoma 12.2
2 uncombable hair syndrome 1 11.6
3 canavan disease 11.2
4 advanced sleep phase syndrome 11.1
5 neuroblastoma 10.6
6 thalassemia 10.4
7 alpha-thalassemia 10.3
8 aspergillosis 10.3
9 allergic bronchopulmonary aspergillosis 10.2
10 arteries, anomalies of 10.2
11 coronary artery anomaly 10.2
12 rheumatoid arthritis 10.1
13 neural tube defects 10.1
14 diabetes mellitus, insulin-dependent 10.1
15 chromophobe renal cell carcinoma 10.1
16 dengue disease 10.1
17 ischemic heart disease 10.1
18 polycystic kidney disease 10.1
19 beta-thalassemia 10.1
20 sarcoma 10.1
21 small cell cancer of the lung 10.1
22 lung cancer 10.1
23 leukemia 10.1
24 alcoholic hepatitis 10.0
25 hemolytic anemia 10.0
26 hypophosphatasia 10.0
27 myeloid leukemia 10.0
28 breast cancer 9.9
29 pelger-huet anomaly 9.9
30 leukemia, acute myeloid 9.9
31 endometrial cancer 9.9
32 human immunodeficiency virus type 1 9.9
33 insulinoma 9.9
34 invasive aspergillosis 9.9
35 microcephaly 9.9
36 microcytic anemia 9.9
37 melanoma 9.9
38 audiogenic seizures 9.9
39 bladder cancer 9.7
40 colorectal cancer 9.7
41 arthrogryposis, distal, type 9 9.7
42 dermatopathia pigmentosa reticularis 9.7
43 glaucoma, primary open angle 9.7
44 hypercholesterolemia, familial 9.7
45 hypertrophic neuropathy of dejerine-sottas 9.7
46 pheochromocytoma 9.7
47 suppressor of tumorigenicity 3 9.7
48 buerger disease 9.7
49 cystic fibrosis 9.7
50 pancreatic cancer 9.7

Graphical network of the top 20 diseases related to Angel-Shaped Phalangoepiphyseal Dysplasia:

Diseases related to Angel-Shaped Phalangoepiphyseal Dysplasia

Symptoms & Phenotypes for Angel-Shaped Phalangoepiphyseal Dysplasia

Clinical features from OMIM:


Human phenotypes related to Angel-Shaped Phalangoepiphyseal Dysplasia:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
3 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
6 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
7 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
8 short 1st metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010034
9 short middle phalanx of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004220
10 hip osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0008843
11 pseudoepiphyses of the metacarpals 32 HP:0009193
12 short middle phalanx of finger 59 Very frequent (99-80%)
13 premature osteoarthritis 32 HP:0003088
14 hyperextensibility of the finger joints 32 HP:0001187
15 delayed ossification of carpal bones 32 HP:0001216

Drugs & Therapeutics for Angel-Shaped Phalangoepiphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Angel-Shaped Phalangoepiphyseal Dysplasia

Genetic Tests for Angel-Shaped Phalangoepiphyseal Dysplasia

Anatomical Context for Angel-Shaped Phalangoepiphyseal Dysplasia

MalaCards organs/tissues related to Angel-Shaped Phalangoepiphyseal Dysplasia:

Bone, Lung, Kidney, Heart, Breast, Myeloid

Publications for Angel-Shaped Phalangoepiphyseal Dysplasia

Articles related to Angel-Shaped Phalangoepiphyseal Dysplasia:

# Title Authors Year
Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia. ( 10720982 )

Variations for Angel-Shaped Phalangoepiphyseal Dysplasia

Expression for Angel-Shaped Phalangoepiphyseal Dysplasia

Search GEO for disease gene expression data for Angel-Shaped Phalangoepiphyseal Dysplasia.

Pathways for Angel-Shaped Phalangoepiphyseal Dysplasia

Pathways related to Angel-Shaped Phalangoepiphyseal Dysplasia according to KEGG:

# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Angel-Shaped Phalangoepiphyseal Dysplasia

Sources for Angel-Shaped Phalangoepiphyseal Dysplasia

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
Loading form....