ACHP
MCID: ACH001
MIFTS: 46

Acheiropody (ACHP) malady

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

Aliases & Classifications for Acheiropody

Aliases & Descriptions for Acheiropody:

Name: Acheiropody 54 12 50 56 66 13 14
Acheiropodia 12 50 56 66 29
Achp 50 66
Foot Deformities, Congenital 42
Hand Deformities, Congenital 42
Acheiropody, Brazilian Type 50
Acheiropody Brazilian Type 66
Horn-Kolb Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
acheiropodia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Brazil),<1/1000000 (Brazil); Age of onset: Antenatal,Neonatal;

HPO:

32
acheiropody:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 200500
Disease Ontology 12 DOID:0050603
Orphanet 56 ORPHA931
UMLS via Orphanet 70 C0265559
MESH via Orphanet 43 C536014
ICD10 via Orphanet 34 Q74.8
MedGen 40 C0265559
ICD10 33 Q68.1

Summaries for Acheiropody

NIH Rare Diseases : 50 acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. the condition appears to affect only the extremities, with no other signs and symptoms reported. it is caused by a defect in the lmbr1 gene and is inherited in an autosomal recessive manner. walking may be possible for individuals with acheiropody with well-fitted prostheses. with the exception of a couple of affected individuals in puerto rico, all other reported cases have occurred in brazil. last updated: 1/31/2011

MalaCards based summary : Acheiropody, also known as acheiropodia, is related to edict syndrome and myasthenia gravis congenital, and has symptoms including abnormality of epiphysis morphology, abnormality of the metaphyses and absent hand. An important gene associated with Acheiropody is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Heart Development. The drugs Ropivacaine and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are embryo and limbs/digits/tail

OMIM : 54 Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the... (200500) more...

UniProtKB/Swiss-Prot : 66 Acheiropody: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet.

Wikipedia : 71 Acheiropodia (ACHP), also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is... more...

Related Diseases for Acheiropody

Graphical network of the top 20 diseases related to Acheiropody:



Diseases related to Acheiropody

Symptoms & Phenotypes for Acheiropody

Symptoms by clinical synopsis from OMIM:

200500

Clinical features from OMIM:

200500

Human phenotypes related to Acheiropody:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
2 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
3 absent hand 56 32 Very frequent (99-80%) HP:0004050
4 fibular aplasia 56 32 Very frequent (99-80%) HP:0002990
5 absent radius 56 32 Very frequent (99-80%) HP:0003974
6 absent ulna 56 32 Very frequent (99-80%) HP:0003982
7 short humerus 56 32 Very frequent (99-80%) HP:0005792
8 upper limb phocomelia 56 32 Very frequent (99-80%) HP:0009813
9 absent toe 32 HP:0010760
10 short tibia 32 HP:0005736
11 aplasia of metacarpal bones 32 HP:0010048
12 absent forearm 32 HP:0005632
13 carpal bone aplasia 32 HP:0004231
14 aplasia of the phalanges of the hand 32 HP:0009802
15 lower limb peromelia 32 HP:0009820
16 aplasia of the tarsal bones 32 HP:0010509
17 absent metatarsal bone 32 HP:0010744

MGI Mouse Phenotypes related to Acheiropody:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 ZP2 SHH TBX3 TBX5
2 limbs/digits/tail MP:0005371 9.46 LMBR1 SHH TBX3 TBX5
3 normal MP:0002873 9.26 LMBR1 SHH TBX3 TBX5
4 skeleton MP:0005390 8.92 LMBR1 SHH TBX3 TBX5

Drugs & Therapeutics for Acheiropody

Drugs for Acheiropody (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 193)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
2
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
3
Bupivacaine Approved, Investigational Phase 4,Phase 2 2180-92-9, 38396-39-3 2474
4
Levobupivacaine Approved Phase 4 27262-47-1 92253
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
7
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
8
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
12 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
13 Anesthetics, Local Phase 4,Phase 2
14 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
16 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
17 Botulinum Toxins Phase 4,Phase 3,Phase 2
18 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
19 Cholinergic Agents Phase 4,Phase 3,Phase 2
20 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
21 Neuromuscular Agents Phase 4,Phase 3,Phase 2
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
23 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
24 Anti-Arrhythmia Agents Phase 4,Phase 2
25 Analgesics Phase 4,Phase 3,Phase 2
26 Adjuvants, Anesthesia Phase 4
27 Diuretics, Potassium Sparing Phase 4
28 Sodium Channel Blockers Phase 4
29 Analgesics, Non-Narcotic Phase 4,Phase 3
30 Analgesics, Opioid Phase 4,Phase 3,Phase 2
31 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
33 Antirheumatic Agents Phase 4,Phase 3
34 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3
35 Cyclooxygenase Inhibitors Phase 4,Phase 3
36 Narcotics Phase 4,Phase 3,Phase 2
37 Antioxidants Phase 4,Phase 2,Phase 1
38 Micronutrients Phase 4,Phase 2,Phase 3
39 Protective Agents Phase 4,Phase 2,Phase 1
40 Thioctic Acid Phase 4
41 Trace Elements Phase 4,Phase 2,Phase 3
42 Vitamin B Complex Phase 4,Phase 2,Phase 3
43 Vitamins Phase 4,Phase 2,Phase 3
44 Autonomic Agents Phase 4,Phase 1
45 Psychotropic Drugs Phase 4,Phase 2
46 Tranquilizing Agents Phase 4,Phase 2
47 Antiemetics Phase 4
48 Antipsychotic Agents Phase 4
49 Dopamine Agents Phase 4
50 Dopamine Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 234)
id Name Status NCT ID Phase
1 Demineralized Bone Matrix in Opening Wedge Osteotomy for Hallux Valgus Deformity Unknown status NCT02388438 Phase 4
2 Therapeutic Effects of Customized Insoles on Children With Flat Foot Unknown status NCT02414087 Phase 4
3 Home Infusors for Analgesia After Foot Surgery Unknown status NCT00600899 Phase 4
4 Artelon Metatarsophalangeal (MTP) Spacer Unknown status NCT01028469 Phase 4
5 Spread And Effectiveness Of Botulinum Neurotoxin A In Spastic Equinus In Cerebral Palsy Completed NCT01276015 Phase 4
6 Continuous Versus Automated Bolus Infusion in Sciatic Nerve Catheters Completed NCT02293330 Phase 4
7 Continuous Wound Infiltration After Hallux Valgus Surgery Completed NCT02182999 Phase 4
8 Lidocaine Versus Bupivacaine in Ambulatory Continuous Block With Elastomeric Pump Completed NCT02121119 Phase 4
9 Popliteal Sciatic Nerve Block: Intraneural or Extraneural? Completed NCT01987128 Phase 4
10 Effect of Botulinum Toxin to Hallux Valgus in Addition to Total Contact Insole Completed NCT01501500 Phase 4
11 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
12 The Effect of Anti-inflammatory Analgesics on Pain Following Hallux Valgus Surgery Completed NCT00733421 Phase 4
13 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
14 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Recruiting NCT03044080 Phase 4
15 Ultrasound Guided Single Shot Block of Posterior Tibial Nerve for Postoperative Pain Relief After Hallux Valgus Surgery Recruiting NCT02282956 Phase 4
16 Amniotic Membrane as an Adjunct Treatment for Hallux Rigidus Active, not recruiting NCT01825356 Phase 4
17 A Clinical Study of Outcomes in Foot and Ankle Bone Grafting Using map3® Cellular Allogeneic Bone Graft Terminated NCT02161016 Phase 4
18 Botox Clinical Trial Withdrawn NCT00624299 Phase 4
19 A Prospective Randomized Comparison of Three Methods for Fixation of Hammertoes Withdrawn NCT01927952 Phase 4
20 Comparison Study of Biofoam Porous Metal Versus Allograft to Treat Adult Acquired Flatfoot Withdrawn NCT00949897 Phase 4
21 A Study Comparing Etoricoxib and Diclofenac Sodium in Post Hallux Valgus Surgery Pain Withdrawn NCT01190722 Phase 4
22 Augment™ Injectable Bone Graft Compared to Autologous Bone Graft as a Bone Regeneration Device in Hindfoot Fusions Unknown status NCT01305356 Phase 3
23 Dysport® Pediatric Lower Limb Spasticity Follow-on Study Completed NCT01251380 Phase 3
24 Dysport® Pediatric Lower Limb Spasticity Study Completed NCT01249417 Phase 3
25 Chloridehexidine Versus Povidine Jodine Both Soluted in Alcohol in Forefoot Surgery Completed NCT01583192 Phase 3
26 Study of Postoperative Analgesia in Bunionectomy Completed NCT00890682 Phase 3
27 Analgesic Efficacy And Safety of Valdecoxib For Treatment Of Post-Surgical Pain From Bunionectomy Surgery Completed NCT00683137 Phase 3
28 Efficacy and Safety Study of 4975 to Manage Pain of Bunionectomy Completed NCT00656578 Phase 3
29 TRAUMEEL S in Reducing Pain After Correction of Hallux Valgus-Clinical Trial Completed NCT00279513 Phase 3
30 Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patients Completed NCT00825097 Phase 3
31 A Study to Evaluate the Effectiveness and Safety of Tapentadol (CG5503) in the Treatment of Acute Pain From Bunionectomy Compared With Placebo Completed NCT01813890 Phase 3
32 A Study of Tapentadol Immediate-Release in the Treatment of Patients With Acute Pain From Bunionectomy Completed NCT01516008 Phase 3
33 A Study to Evaluate the Effectiveness and Safety of Tapentadol (CG5503) in the Treatment of Acute Pain From Bunionectomy. Completed NCT00613938 Phase 3
34 A Study to Evaluate the Effectiveness and Safety of Tapentadol(CG5503) in the Treatment of Acute Pain From Bunionectomy Compared With Placebo Followed by a Voluntary Open Label Extension for Safety. Completed NCT00364247 Phase 3
35 Newborn Kit to Save Lives in Pakistan Completed NCT02130856 Phase 3
36 Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence Completed NCT00562289 Phase 3
37 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
38 COrticosteroid in Congenital Adrenal Hyperplasia Recruiting NCT02552251 Phase 2, Phase 3
39 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
40 Effect Of Mesenchymal Stem Cells Transfusion on the Diabetic Peripheral Neuropathy Patients . Active, not recruiting NCT02387749 Phase 2, Phase 3
41 Effects of PTH Replacement on Bone in Hypoparathyroidism Active, not recruiting NCT00395538 Phase 3
42 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
43 Topical Everolimus in Patients With Tuberous Sclerosis Complex Not yet recruiting NCT02860494 Phase 2, Phase 3
44 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita Unknown status NCT00936533 Phase 2
45 Efficacy and Safety of Intranasal Morphine for Pain After Bunion Surgery Completed NCT00388011 Phase 2
46 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
47 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2
48 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
49 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
50 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2

Search NIH Clinical Center for Acheiropody

Cochrane evidence based reviews: foot deformities, congenital

Genetic Tests for Acheiropody

Genetic tests related to Acheiropody:

id Genetic test Affiliating Genes
1 Acheiropodia 29

Anatomical Context for Acheiropody

MalaCards organs/tissues related to Acheiropody:

39
Bone

Publications for Acheiropody

Articles related to Acheiropody:

id Title Authors Year
1
Acheiropody. A report of two cases. ( 7929505 )
1994
2
Age, area, and acheiropody. ( 7286983 )
1981
3
Further data on acheiropody. ( 4659166 )
1972
4
A radiological and genetic investigation of acheiropody in a kindred including six cases. ( 5808544 )
1969

Variations for Acheiropody

ClinVar genetic disease variations for Acheiropody:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.180-2465_319+2696del deletion Pathogenic GRCh37 Chromosome 7, 156615803: 156621903

Expression for Acheiropody

Search GEO for disease gene expression data for Acheiropody.

Pathways for Acheiropody

Pathways related to Acheiropody according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.08 SHH TBX5
2 10.29 SHH TBX5

GO Terms for Acheiropody

Biological processes related to Acheiropody according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.67 SHH TBX3 TBX5
2 negative regulation of cell migration GO:0030336 9.52 SHH TBX5
3 lung development GO:0030324 9.51 SHH TBX5
4 palate development GO:0060021 9.48 SHH TBX3
5 heart looping GO:0001947 9.46 SHH TBX3
6 embryonic limb morphogenesis GO:0030326 9.43 SHH TBX5
7 pattern specification process GO:0007389 9.4 SHH TBX5
8 cardiac muscle cell differentiation GO:0055007 9.37 TBX3 TBX5
9 embryonic hindlimb morphogenesis GO:0035116 9.32 SHH TBX3
10 male genitalia development GO:0030539 9.26 SHH TBX3
11 forelimb morphogenesis GO:0035136 9.16 TBX3 TBX5
12 embryonic digit morphogenesis GO:0042733 9.13 LMBR1 SHH TBX3
13 embryonic forelimb morphogenesis GO:0035115 8.8 SHH TBX3 TBX5

Sources for Acheiropody

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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