ACHP
MCID: ACH001
MIFTS: 45

Acheiropody (ACHP)

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

Aliases & Classifications for Acheiropody

MalaCards integrated aliases for Acheiropody:

Name: Acheiropody 57 12 53 59 74 13 15 40
Acheiropodia 57 12 75 53 59 74 37 29 6
Achp 57 53 74
Acheiropody, Brazilian Type 57 53
Horn-Kolb Syndrome 12 75
Foot Deformities, Congenital 44
Hand Deformities, Congenital 44
Acheiropody Brazilian Type 74
Horn Kolb Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
acheiropodia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Brazil),<1/1000000 (Brazil); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases occur in brazilian population


HPO:

32
acheiropody:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050603
OMIM 57 200500
KEGG 37 H00629
ICD10 33 Q68.1
MESH via Orphanet 45 C536014
ICD10 via Orphanet 34 Q74.8
UMLS via Orphanet 73 C0265559
Orphanet 59 ORPHA931
MedGen 42 C0265559

Summaries for Acheiropody

NIH Rare Diseases : 53 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 are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Heart Development. 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 : 57 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 : 37
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 : 74 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 : 75 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
3 absent hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0004050
4 fibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002990
5 absent radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0003974
6 short humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792
7 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813
8 absent toe 32 hallmark (90%) HP:0010760
9 short tibia 32 hallmark (90%) HP:0005736
10 aplasia of metacarpal bones 32 hallmark (90%) HP:0010048
11 absent forearm 32 hallmark (90%) HP:0005632
12 aplasia of the ulna 32 hallmark (90%) HP:0003982
13 carpal bone aplasia 32 hallmark (90%) HP:0004231
14 aplasia of the phalanges of the hand 32 hallmark (90%) HP:0009802
15 lower limb peromelia 32 hallmark (90%) HP:0009820
16 aplasia of the tarsal bones 32 hallmark (90%) HP:0010509
17 absent metatarsal bone 32 hallmark (90%) HP:0010744
18 absent ulna 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Acheiropody:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 SHH TBX3 TBX5 ZP2
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 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 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Antimanic Agents Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Psychotropic Drugs Phase 2
9 Anticonvulsants Phase 2

Interventional clinical trials:

(show all 17)
# 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 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
7 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot in Newborns and Infants Completed NCT02815306
8 Shear and Pressure Reducing Insoles for the Diabetic Foot Completed NCT00499356
9 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
10 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
11 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
12 A Retrospective Multicenter Analysis on Treatment of Congenital Idiopathic Clubfoot With Minimally Invasive Carroll's Technique Recruiting NCT02815215 Early Phase 1
13 Anthropometric and Biomechanical Variables Causing Foot Deformities in Young Individuals, Using the Hierarchical Cluster Method Recruiting NCT03954301
14 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
15 Digital Foot Check by Using the D-Foot, a New Software Not yet recruiting NCT04054804
16 10 Years Follow-up of Gait Characteristics, Plantar Pressure, Kinetics and Kinematics in a Cohort of Patients Diagnosed With Diabetes Not yet recruiting NCT04054076
17 Assessment of Surgical Correction of Deformity in Diabetic Charcot Arthropathy of the Foot and Ankle Not yet recruiting NCT04039308

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:

41
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. 38 8 71
11090342 2001
2
A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis. 38 8
10780921 2000
3
Acheiropodia: report on four new Brazilian patients. 38 8
2363435 1990
4
Variable expressivity of the acheiropodia gene. 38 8
6660253 1983
5
Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia. 38 8
7018242 1981
6
Age, area, and acheiropody. 38 8
7286983 1981
7
Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects. 38 8
517582 1979
8
Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study. 38 8
263446 1978
9
Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics. 38 8
1163539 1975
10
Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. 38 8
1155460 1975
11
Genetics of acheiropodia (the handless and footless families of Brazil). 38 8
1132167 1975
12
A radiological and genetic investigation of acheiropody in a kindred including six cases. 38 8
5808544 1969
13
Novel copy number variants and major limb reduction malformation: Report of three cases. 38
26749485 2016
14
[Acheiropodia: first case report in Argentina]. 38
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. 38
23569502 2012
16
Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development. 38
14991708 2004
17
[Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report]. 38
11582532 2001
18
[Acheiropody]. 38
11462731 2001
19
Acheiropodia: new cases from Brazil. 38
9788736 1998
20
Artistic and documentary evidence for tetradysmelia from sixteenth century England. 38
7747761 1994
21
Acheiropody. A report of two cases. 38
7929505 1994
22
Inbreeding effect on morbidity: III. A review of the world literature. 38
6475999 1984
23
Acheiropodia in Junqueiro sonnet? 38
7332032 1981
24
Genetics and limb deficiencies. 38
7379414 1980
25
[Urinary mucopolysaccharides in acheiropodia]. 38
146906 1977
26
Urinary mucopolysaccharides in acheiropodia. 38
906767 1977
27
Growth of deleterious mutant genes in a large population. 38
952486 1976
28
Genetics of acheiropodia ("The handless and footless families of Brazil"): IV. Sex ratio, consanguinity and birth order. 38
1052763 1975
29
Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling. 38
126945 1975
30
Further data on acheiropody. 38
4659166 1972
31
HEREDITARY BRACHYDACTYLIA AND ALLIED ABNORMALITIES IN THE RABBIT. 38
19870848 1939

Variations for Acheiropody

ClinVar genetic disease variations for Acheiropody:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMBR1 NM_022458.3(LMBR1): c.180-2465_319+2696del deletion Pathogenic 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 11.08 TBX5 SHH
2 10.29 TBX5 SHH

GO Terms for Acheiropody

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.69 TBX5 TBX3 SHH
2 regulation of cell proliferation GO:0042127 9.54 TBX3 SHH
3 negative regulation of cell migration GO:0030336 9.52 TBX5 SHH
4 lung development GO:0030324 9.49 TBX5 SHH
5 roof of mouth development GO:0060021 9.48 TBX3 SHH
6 pattern specification process GO:0007389 9.46 TBX5 SHH
7 heart looping GO:0001947 9.43 TBX3 SHH
8 embryonic limb morphogenesis GO:0030326 9.4 TBX5 SHH
9 embryonic hindlimb morphogenesis GO:0035116 9.37 TBX3 SHH
10 cardiac muscle cell differentiation GO:0055007 9.32 TBX5 TBX3
11 male genitalia development GO:0030539 9.26 TBX3 SHH
12 forelimb morphogenesis GO:0035136 9.16 TBX5 TBX3
13 embryonic digit morphogenesis GO:0042733 9.13 TBX3 SHH LMBR1
14 embryonic forelimb morphogenesis GO:0035115 8.8 TBX5 TBX3 SHH

Sources for Acheiropody

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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