ACHP
MCID: ACH001
MIFTS: 40

Acheiropody (ACHP)

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

Aliases & Classifications for Acheiropody

MalaCards integrated aliases for Acheiropody:

Name: Acheiropody 56 12 52 58 73 13 15 39
Acheiropodia 56 12 74 52 58 73 36 29 6
Achp 56 52 73
Acheiropody, Brazilian Type 56 52
Horn-Kolb Syndrome 12 74
Foot Deformities, Congenital 43
Hand Deformities, Congenital 43
Acheiropody Brazilian Type 73
Horn Kolb Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
acheiropodia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Brazil),<1/1000000 (Brazil); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases occur in brazilian population


HPO:

31
acheiropody:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050603
OMIM 56 200500
KEGG 36 H00629
ICD10 32 Q68.1
MESH via Orphanet 44 C536014
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 72 C0265559
Orphanet 58 ORPHA931
MedGen 41 C0265559
SNOMED-CT via HPO 68 253926000 258211005 371199008

Summaries for Acheiropody

NIH Rare Diseases : 52 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.

MalaCards based summary : Acheiropody, also known as acheiropodia, is related to congenital amputation and autosomal recessive disease. An important gene associated with Acheiropody is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Astragalus and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are abnormality of epiphysis morphology and abnormality of the metaphysis

Disease Ontology : 12 An osteochondrodysplasia characterized by a lack of formation of the distal extremities has material basis in mutation in the LMBR1 gene.

OMIM : 56 Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001). (200500)

KEGG : 36 Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait.

UniProtKB/Swiss-Prot : 73 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 : 74 Acheiropodia (ACHP), is an autosomal recessive disorder that results in hemimelia, a lack of formation... more...

Related Diseases for Acheiropody

Graphical network of the top 20 diseases related to Acheiropody:



Diseases related to Acheiropody

Symptoms & Phenotypes for Acheiropody

Human phenotypes related to Acheiropody:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 absent hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0004050
4 fibular aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002990
5 absent radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0003974
6 short humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005792
7 upper limb phocomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009813
8 absent toe 31 hallmark (90%) HP:0010760
9 short tibia 31 hallmark (90%) HP:0005736
10 aplasia of metacarpal bones 31 hallmark (90%) HP:0010048
11 absent forearm 31 hallmark (90%) HP:0005632
12 aplasia of the ulna 31 hallmark (90%) HP:0003982
13 carpal bone aplasia 31 hallmark (90%) HP:0004231
14 aplasia of the phalanges of the hand 31 hallmark (90%) HP:0009802
15 lower limb peromelia 31 hallmark (90%) HP:0009820
16 aplasia of the tarsal bones 31 hallmark (90%) HP:0010509
17 absent metatarsal bone 31 hallmark (90%) HP:0010744
18 absent ulna 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
fibular aplasia
radial aplasia
hemimelia
congenital quadruple amputation of upper and lower extremities
absent forearms
more
Skeletal Feet:
phalangeal aplasia
absent feet
tarsal aplasia
metatarsal aplasia

Skeletal Hands:
absent hands
carpal aplasia
metacarpal aplasia
phalangeal aplasia

Clinical features from OMIM:

200500

Drugs & Therapeutics for Acheiropody

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Astragalus Phase 4
2
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
3 Tranquilizing Agents Phase 2
4 Psychotropic Drugs Phase 2
5 GABA Agents Phase 2
6 Anticonvulsants Phase 2
7 Antimanic Agents Phase 2
8 Central Nervous System Depressants Phase 2
9 Histone Deacetylase Inhibitors Phase 2

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Radiographic and Clinical Outcomes Study Evaluating map3® Cellular Allogeneic Bone Graft in Patients Undergoing Bone Grafting in the Foot/Ankle Terminated NCT02161016 Phase 4
2 Botulinum Toxin: an Adjunct in Limb Reconstruction - Can it Reduce Pain and Joint Complications in the Lengthening Phase? Withdrawn NCT00624299 Phase 4 Botox
3 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
4 BION Implantable Microstimulator Completed NCT00628537 Phase 1
5 Effectiveness of Parent's Manipulation in Newborn With Metatarsus Adducts.a Randomized Controlled Trial Unknown status NCT02093507
6 A Retrospective Multicenter Analysis on Treatment of Congenital Idiopathic Clubfoot With Minimally Invasive Carroll's Technique Unknown status NCT02815215 Early Phase 1
7 PerLE (Peroneus Longus Evaluation): A Study Evaluating the Efficacy of Injection of Dysport in Peroneus Longus in Equinus Foot Deformity in Children With Cerebral Palsy Unknown status NCT02856321
8 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot in Newborns and Infants Completed NCT02815306
9 Shear and Pressure Reducing Insoles for the Diabetic Foot Completed NCT00499356
10 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
11 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
12 Anthropometric and Biomechanical Variables Causing Foot Deformities in Young Individuals, Using the Hierarchical Cluster Method Recruiting NCT03954301
13 Digital Foot Check by Using the D-Foot, a New Software Not yet recruiting NCT04054804
14 Assessment of Surgical Correction of Deformity in Diabetic Charcot Arthropathy of the Foot and Ankle Not yet recruiting NCT04039308
15 10 Years Follow-up of Gait Characteristics, Plantar Pressure, Kinetics and Kinematics in a Cohort of Patients Diagnosed With Diabetes Not yet recruiting NCT04054076

Search NIH Clinical Center for Acheiropody

Cochrane evidence based reviews: foot deformities, congenital

Genetic Tests for Acheiropody

Genetic tests related to Acheiropody:

# Genetic test Affiliating Genes
1 Acheiropodia 29 LMBR1

Anatomical Context for Acheiropody

MalaCards organs/tissues related to Acheiropody:

40
Bone, Skin

Publications for Acheiropody

Articles related to Acheiropody:

(show all 31)
# Title Authors PMID Year
1
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 61 56 6
11090342 2001
2
A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis. 61 56
10780921 2000
3
Acheiropodia: report on four new Brazilian patients. 61 56
2363435 1990
4
Variable expressivity of the acheiropodia gene. 61 56
6660253 1983
5
Age, area, and acheiropody. 61 56
7286983 1981
6
Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia. 61 56
7018242 1981
7
Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects. 61 56
517582 1979
8
Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study. 61 56
263446 1978
9
Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics. 61 56
1163539 1975
10
Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. 61 56
1155460 1975
11
Genetics of acheiropodia (the handless and footless families of Brazil). 61 56
1132167 1975
12
A radiological and genetic investigation of acheiropody in a kindred including six cases. 61 56
5808544 1969
13
Novel copy number variants and major limb reduction malformation: Report of three cases. 61
26749485 2016
14
[Acheiropodia: first case report in Argentina]. 61
26294167 2015
15
The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography. 61
23569502 2012
16
Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development. 61
14991708 2004
17
[Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report]. 61
11582532 2001
18
[Acheiropody]. 61
11462731 2001
19
Acheiropodia: new cases from Brazil. 61
9788736 1998
20
Artistic and documentary evidence for tetradysmelia from sixteenth century England. 61
7747761 1994
21
Acheiropody. A report of two cases. 61
7929505 1994
22
Inbreeding effect on morbidity: III. A review of the world literature. 61
6475999 1984
23
Acheiropodia in Junqueiro sonnet? 61
7332032 1981
24
Genetics and limb deficiencies. 61
7379414 1980
25
[Urinary mucopolysaccharides in acheiropodia]. 61
146906 1977
26
Urinary mucopolysaccharides in acheiropodia. 61
906767 1977
27
Growth of deleterious mutant genes in a large population. 61
952486 1976
28
Genetics of acheiropodia ("The handless and footless families of Brazil"): IV. Sex ratio, consanguinity and birth order. 61
1052763 1975
29
Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling. 61
126945 1975
30
Further data on acheiropody. 61
4659166 1972
31
HEREDITARY BRACHYDACTYLIA AND ALLIED ABNORMALITIES IN THE RABBIT. 61
19870848 1939

Variations for Acheiropody

ClinVar genetic disease variations for Acheiropody:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMBR1 NM_022458.3(LMBR1):c.180-2465_319+2696deldeletion Pathogenic 4896 7:156615803-156621903 7:156823109-156829209

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:

# Super pathways Score Top Affiliating Genes
1 10.52 SHH MNX1

GO Terms for Acheiropody

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

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.4 TBX3 SHH
2 heart looping GO:0001947 9.37 TBX3 SHH
3 cell fate specification GO:0001708 9.32 TBX3 SHH
4 embryonic forelimb morphogenesis GO:0035115 9.26 TBX3 SHH
5 embryonic hindlimb morphogenesis GO:0035116 9.16 TBX3 SHH
6 male genitalia development GO:0030539 8.96 TBX3 SHH
7 embryonic digit morphogenesis GO:0042733 8.8 TBX3 SHH LMBR1

Sources for Acheiropody

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....