ASPED
MCID: ANG066
MIFTS: 30

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 20 36 70
Asped 57 20 58
Angel-Shaped Phalango-Epiphyseal Dysplasia 20 58

Characteristics:

Orphanet epidemiological data:

58
angel-shaped phalango-epiphyseal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 105835
KEGG 36 H00483
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C1739384
Orphanet 58 ORPHA63442
MedGen 41 C1739384
UMLS 70 C1739384

Summaries for Angel-Shaped Phalangoepiphyseal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63442 Definition A form of acromelic dysplasia 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. Epidemiology The 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 description Clinical 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. Etiology ASPED 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 methods Diagnostic 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 diagnosis The 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 diagnosis As ASPED is not a serious condition, prenatal diagnosis is not offered. Genetic counseling ASPED is transmitted as an autosomal dominant condition and genetic counseling is possible. Clinical variability and low penetrance have been reported. Management and treatment Treatment 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. Prognosis ASPED does not affect life-expectancy and the prognosis is good. Quality of life is reduced in those with untreated and severe coxarthrosis.

MalaCards based summary : Angel-Shaped Phalangoepiphyseal Dysplasia, also known as angel shaped phalangoepiphyseal dysplasia, is related to uncombable hair syndrome 1 and ectodermal dysplasia. 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. The drugs Gemcitabine and Pegaspargase have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are abnormality of epiphysis morphology and short 1st metacarpal

KEGG : 36 Angel shaped phalangoepiphyseal dysplasia (ASPED) is one type of osteochondrodysplasia characterized by angel shaped middle phalanges and generalized epiphyseal dysplasia that disproportionately affects the middle phalanx and distal hip joint.

More information 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 all 15)
# Related Disease Score Top Affiliating Genes
1 uncombable hair syndrome 1 11.4
2 ectodermal dysplasia 10.4
3 fundus dystrophy 10.4
4 inherited retinal disorder 10.4
5 diabetes mellitus 10.0
6 peripheral dysostosis 9.9
7 alveolar soft part sarcoma 9.9
8 brachydactyly 9.9
9 metaphyseal dysplasia 9.9
10 neonatal diabetes 9.9
11 multiple epiphyseal dysplasia 9.9
12 dysostosis 9.9
13 osteochondrodysplasia 9.9
14 osteoarthritis 9.9
15 hypoglycemia 9.9

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

Human phenotypes related to Angel-Shaped Phalangoepiphyseal Dysplasia:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
3 short middle phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004220
4 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
7 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
8 hip osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0008843
9 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
10 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
11 pseudoepiphyses of the metacarpals 31 HP:0009193
12 short middle phalanx of finger 58 Very frequent (99-80%)
13 hyperextensibility of the finger joints 31 HP:0001187
14 delayed ossification of carpal bones 31 HP:0001216
15 premature osteoarthritis 31 HP:0003088

Clinical features from OMIM®:

105835 (Updated 20-May-2021)

Drugs & Therapeutics for Angel-Shaped Phalangoepiphyseal Dysplasia

Drugs for Angel-Shaped Phalangoepiphyseal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 151)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 4 95058-81-4 60750
2
Pegaspargase Approved, Investigational Phase 4 130167-69-0
3
Etoposide Approved Phase 4 33419-42-0 36462
4
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
5
Mesna Approved, Investigational Phase 4 3375-50-6 598
6
Ifosfamide Approved Phase 4 3778-73-2 3690
7
Daunorubicin Approved Phase 4 20830-81-3 30323
8
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
9
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
10
Mercaptopurine Approved Phase 4 50-44-2 667490
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
13
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
14
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
17
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
18
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
19
Teniposide Approved Phase 4 29767-20-2 34698
20
Metformin Approved Phase 4 657-24-9 14219 4091
21
Insulin aspart Approved Phase 4 116094-23-6 16132418
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
23
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
24
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
25 Retinol palmitate Phase 4
26 Omega 3 Fatty Acid Phase 4
27 Complement C3 Phase 4
28 retinol Phase 4
29 N-Methylaspartate Phase 4
30
asparaginase Phase 4
31 Etoposide phosphate Phase 4
32
Isophosphamide mustard Phase 4 100427
33 BB 1101 Phase 4
34 Antirheumatic Agents Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Analgesics Phase 4
37 Antibiotics, Antitubercular Phase 4
38 Anti-Bacterial Agents Phase 4
39 Anti-Infective Agents Phase 4
40 Immunosuppressive Agents Phase 4
41 Immunologic Factors Phase 4
42 Antiviral Agents Phase 4
43 Antimetabolites Phase 4
44 Gastrointestinal Agents Phase 4
45 Tubulin Modulators Phase 4
46 Vitamin B9 Phase 4
47 Folic Acid Antagonists Phase 4
48 Hormones Phase 4
49 Antimitotic Agents Phase 4
50 Vitamin B Complex Phase 4

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 The Impact of Omega-3 Supplementation on Acylation Stimulating Protein(ASP), Retinol-binding Protein 4 (RBP4) and Lipocalin-2 (LCN2) Gene Expression of ASP Receptor (C5L2) in WBC of Patient With Diabetes Type 2 Unknown status NCT01478776 Phase 4
2 A Randomized Controlled Multi-center Clinical Trial on Treatment of Stage Ⅲ/Ⅳ NK/T Cell Lymphoma With DDGP Regiment (Gemcitabine,Pegaspargase,Cisplatin,Dexamethasone) Unknown status NCT01501149 Phase 4 DDGP(cisplatin,dexamethasone,gemcitabine,pegaspargase);Modified SMILE (MTX,DEX,IFO,L-ASP,Etoposide,Mesna)
3 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Completed NCT00853008 Phase 4 Vincristine;Daunorubicin;Prednisone;Mitoxantrone;Cytosine Arabinoside;Dexamethasone;Methotrexate (MTX);Cytarabine;ASP;Mercaptopurine;Teniposide;Hydrocortisone
4 Comparison of Efficacy and Safety of Prandilin and NovoRapid Evaluated by Continuous Glucose Monitoring System in Newly Diagnosed Type 2 Diabetes Completed NCT03226210 Phase 4 aspart insulin or lipro insulin
5 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Target Total Therapy for Adult Early T-cell Progenitor Acute Lymphoblastic Leukemia/Lymphoma Unknown status NCT03553238 Phase 2, Phase 3 Chidamide;Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-Mercaptopurine;Etoposide;Cytarabine
6 A Randomized Exploratory Study to Evaluate Two Acupuncture Methods for the Treatment of Headaches Associated With Traumatic Brain Injury Completed NCT01338701 Phase 2, Phase 3
7 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Trial of Topical ASP-1001 (Contrast Media Formulation) in the Prevention of the Signs and Symptoms of the Acute Response to Nasal Allergen Challenge (NAC) Completed NCT00791102 Phase 2, Phase 3 ASP-1001 nasal spray;Placebo for ASP-1001
8 A Phase 3, Randomized, Double-Arm, Open-Label, Controlled Trial of ASP-1929 Photoimmunotherapy Versus Physician's Choice Standard of Care for the Treatment of Locoregional, Recurrent Head and Neck Squamous Cell Carcinoma in Patients Who Have Failed or Progressed On or After at Least Two Lines of Therapy, of Which at Least One Line Must Be Systemic Therapy Recruiting NCT03769506 Phase 3 Physician's Choice SOC
9 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Total Therapy for Adult T-lymphoblastic Lymphoma/Leukemia Recruiting NCT03564704 Phase 2, Phase 3 Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-mercaptopurine.;Etoposide;Cytarabine;Chidamide
10 A Randomized Multi-Center Treatment Study (COALL 08-09) to Improve the Survival of Children With Acute Lymphoblastic Leukemia on Behalf of the German Society of Pediatric Hematology and Oncology Active, not recruiting NCT01228331 Phase 2, Phase 3 Amsacrine;Clofarabine;Cyclophosphamide;Cytarabine;Daunorubicin hydrochloride;Dexamethasone;Doxorubicin hydrochloride;Etoposide phosphate;Mercaptopurine;Methotrexate;Methylprednisolone;Pegaspargase;Thioguanine;Vincristine sulfate
11 Safety and Efficacy of Intensive Versus Guideline Antiplatelet Therapy in High Risk Patients With Recent Ischaemic Stroke or Transient Ischaemic Attack: a Randomised Controlled Trial Terminated NCT01661322 Phase 3 Aspirin, Dipyradimole, Clopidogrel
12 ASP II (Ancrod Stroke Program) Study of Acute Viprinex™ for Emergency Stroke: A Randomized, Double-Blind, Placebo-Controlled Study of Ancrod (Viprinex™) in Subjects Beginning Treatment Within 6 Hours of the Onset of Acute Ischemic Stroke Terminated NCT00300196 Phase 3 Placebo
13 ASP I (Ancrod Stroke Program) Study of Acute Viprinex™ for Emergency Stroke: A Randomized, Double-Blind, Placebo-Controlled Study of Ancrod (Viprinex™) in Subjects Beginning Treatment Within 6 Hours of the Onset of Acute, Ischemic Stroke Terminated NCT00141011 Phase 3 Ancrod (Viprinex);Placebo
14 Phase 2 Study Evaluating the Efficacy of Rituximab Plus Modified VPDL for Newly Diagnosed CD20-Positive Adult Acute Lymphoblastic Leukemia Unknown status NCT01429610 Phase 2 Rituximab+mVPDL
15 Phase II Study of L-asparaginase Plus DICE Regimen in Patients With Stage I/II NK/T-cell Lymphoma Unknown status NCT00933673 Phase 2 L-asp, DXM, IFO, VP-16, DDP
16 A Study of Gemcitabine, L- Asparaginase, Ifosfamide, Dexamethasone and Etoposide Chemotherapy Followed by ASCT for Newly Diagnosed Stage IV, Relapsed or Refractory Extranodal Natural Killer/T-cell Lymphoma, Nasal Type Unknown status NCT03154918 Phase 2 GLIDE
17 A 12-week With Possible Extension, Prospective, Multicenter, Randomized, Open-label, 2-parallel Group, Phase IIa Study to Compare Efficacy and Safety of AB1010 at 3 or 6 mg/kg/Day in Treatment of Patients With Mastocytosis With Handicap and Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT01266369 Phase 2 masitinib
18 Development of a New Non-radioactive Test for Measuring Glomerular Filtration Rate Using the Tetrapeptide N-acetyl-Ser-Asp-Lys-Pro-amide (AcSDKP-NH2) Completed NCT01588756 Phase 1, Phase 2 AcSDKP-NH2 inuline;AcSDKP-NH2 Cr-EDTA
19 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
20 Battlefield Acupuncture for the Treatment of Low Back Pain in the Emergency Department Completed NCT02399969 Phase 1, Phase 2
21 An Open-label Study Using ASP-1929 Photoimmunotherapy in Combination With Anti-PD1 Therapy in EGFR Expressing Advanced Solid Tumors Recruiting NCT04305795 Phase 1, Phase 2
22 An Open-label, Single-arm, Phase II Clinical Study of Anti-PD-1 Antibody GB226 in Treatment of Relapsed/Metastatic/Unresectable Alveolar Soft Part Sarcoma (ASPS) Recruiting NCT03623581 Phase 2
23 Phase 2 Trial of PEG-ASP Combined With Etoposide and Gemcitabine (PEG) as First-line Chemotherapy to Treat NK/T-cell Lymphoma Recruiting NCT02705508 Phase 2 Gemcitabine;etoposide;Pegaspargase
24 Impact of Aspirin Use on the Severity of Organ Dysfunctions in Patients With Sepsis and Septic Shock: a Randomized, Double-blind, Placebo-controlled Trial - ASP-SEPSIS. Recruiting NCT01784159 Phase 2 Aspirin
25 Anti-PD-1 Antibody, Peg-Asparaginase, Chidamide Combined With Radiotherapy for the First-line Treatment of Patients With Stage I/II Extranodal Natural Killer/T Cell Lymphoma, Nasal Type (ENKTL): An Open-label, Multicenter, Phase II Trial Recruiting NCT04414969 Phase 2 Anti-PD-1 antibody+Peg-Asparaginase+Chidamide
26 A Phase II Trial In Which Patients With Metastatic Alveolar Soft Part Sarcoma Are Randomized to Either Sunitinib or Cediranib Monotherapy, With Cross-Over at Disease Progression Active, not recruiting NCT01391962 Phase 2 Cediranib;Sunitinib
27 A Phase II Trial of Concurrent Axitinib and Pembrolizumab in Subjects With Advanced Alveolar Soft Part Sarcoma (ASPS) and Other Soft Tissue Sarcomas (STS) Active, not recruiting NCT02636725 Phase 2 Axitinib;Pembrolizumab
28 Phase II Study of Cediranib (AZD2171) in Patients With Alveolar Soft Part Sarcoma Active, not recruiting NCT00942877 Phase 2 AZD2171
29 ASP 8825 Phase II Study-A Double- Blind, Placebo- Controlled Study in Patients With Painful Diabetic Polyneuropathy Terminated NCT00508430 Phase 2 ASP8825;Placebo
30 Phase 1, Single-Center, Double-Blind, Placebo-Controlled, Randomized, Dose-Escalation Study to Compare the Safety, Tolerability, and Immunogenicity of Three Intramuscular Administrations of Na-ASP-2 Hookworm Vaccine in Healthy Adults Without Evidence of Hookworm Infection Completed NCT00120081 Phase 1
31 Double-blind, Randomized, Controlled Phase 1 Study of the Safety and Immunogenicity of Na-ASP-2 Hookworm Vaccine in Previously-Infected Brazilian Adults Terminated NCT00473967 Phase 1
32 Comparison of Remission Rate and Leukemic Stem Cell Changes Among Patients With Newly Diagnosed Adult ALL With Liposomal Doxorubicin and Daunorubicin-containing VDCLD Regimen. Unknown status NCT03419494 PLD;DNR
33 Active Play -an After-school-program Intervention to Promote Physical Activity and Health-related Quality of Life in Young Children Completed NCT02954614
34 A Multi-Center, Pilot Efficacy Study of the GI Sleeve™ for Pre-Surgical Weight Loss Completed NCT00830440
35 Clinical Safety and Effectiveness of ASP-57 Multi-Purpose Contact Lens Care Solution Compared to a Marketed Contact Lens Solution Completed NCT03537248
36 Development of a Skin Test to Detect Immediate-type Hypersensitivity to the Experimental Na-ASP-2 Hookworm Antigen Completed NCT00603889
37 Cross-cultural Adaptation, Reliability, and Validity of Turkish Adult Sensory Processing Scale (ASPS) Completed NCT04713839
38 Randomized Clinical Trial Evaluating the Efficacy of the Peer-run Vocational Empowerment Photovoice (VEP) to Increase the Capacity of Individuals With Psychiatric Disabilities to Pursue Employment Completed NCT02784938
39 The Effect of Battlefield Acupuncture and Physical Therapy Versus Physical Therapy Alone Following Shoulder Surgery: A Randomized Clinical Trial Completed NCT03525275
40 Determination of Prevalence and Intensity of Hookworm Infection and Community Preparedness for Hookworm Vaccine Trials in Endemic Areas of Northeastern Minas Gerais, Brazil Completed NCT00939198
41 "The Anatolian Sitting Neuraxial Position Technique"; is it Beneficial? A Prospective Clinical Comparison Trial Via Ultrasonography Completed NCT03741465
42 Nutrition and Physical Activity Policies, Obesogenic Behaviors and Weight Outcomes Completed NCT02144519
43 Policy to Practice: Statewide Rollout of YMCA Childhood Obesity Standards Completed NCT02394717
44 Serum Iron Increase With From Iron-enriched Aspergillus Compared to Ferrous Sulfate in Healthy Female Subjects Completed NCT03156712
45 Connect Through PLAY: A Staff-based Physical Activity Intervention for Middle School Youth Recruiting NCT03732144
46 Antibiotic Stewardship Program in Pancreatic Surgery: a Multicenter Time Series Analysis (BIOSTEPS). Recruiting NCT04199494
47 Phase 3 Study Randomized Against Placebo, Evaluating the Efficacy of Auriculotherapy in Patients With Musculoskeletal Pain by Aromatase Inhibitors in Adjuvant Treatment of Breast Cancer (TRIPLE-A) Recruiting NCT03096041
48 INtelligent Stewardship Prompts to Improve Real-time Empiric Antibiotic Selection for Patients With Urinary Tract Infections (UTI): The INSPIRE-ASP UTI Trial Recruiting NCT03697096
49 INtelligent Stewardship Prompts to Improve Real-time Empiric Antibiotic Selection for Patients With Pneumonia: The INSPIRE-ASP PNA Trial Recruiting NCT03697070
50 Circadian Rhythms and Sleep in Familial Delayed Sleep Phase Syndrome (DSPS) and Advanced Sleep Phase Syndrome (ASPS) Recruiting NCT00246454

Search 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:

40
Bone, Skin

Publications for Angel-Shaped Phalangoepiphyseal Dysplasia

Articles related to Angel-Shaped Phalangoepiphyseal Dysplasia:

# Title Authors PMID Year
1
Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. 61 57
8267010 1993
2
"Angel-shaped phalanx" in a boy with oromandibular-limb hypogenesis. 57
12707967 2003
3
Hereditary peripheral dysostosis (three cases). 57
6018472 1967
4
[Touched by an angel]. 61
32392006 2020
5
Diagnosis and management of neonatal diabetes mellitus: A survey of physicians' perceptions and practices in ASPED countries. 61
31830516 2020
6
The fifth combined school of the Arab Society for Pediatric Endocrinology and Diabetes (ASPED) and European Society for Paediatric Endocrinology (ESPE), 2018: a model for inter-societies collaboration. 61
31390955 2019
7
Management of diabetes during Ramadan fasting in children and adolescents: A survey of physicians' perceptions and practices in the Arab Society for Paediatric Endocrinology and Diabetes (ASPED) countries. 61
30629966 2019
8
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum. 61
22828468 2012
9
Chiral ligand-exchange separation and resolution of extremely rigid glutamate analogs: 1-aminospiro[2.2]pentyl-1,4-dicarboxylic acids. 61
20496034 2010
10
Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case report. 61
12580536 2002

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:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Angel-Shaped Phalangoepiphyseal Dysplasia

Sources for Angel-Shaped Phalangoepiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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