MCID: ACH001
MIFTS: 40

Acheiropody

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

Aliases & Classifications for Acheiropody

MalaCards integrated aliases for Acheiropody:

Name: Acheiropody 53 12 49 55 71 13 14
Acheiropodia 53 12 72 49 55 71 36 28
Achp 53 49 71
Acheiropody, Brazilian Type 53 49
Foot Deformities, Congenital 41
Hand Deformities, Congenital 41
Acheiropody Brazilian Type 71
Horn-Kolb Syndrome 12
Horn Kolb Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
acheiropodia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Brazil),<1/1000000 (Brazil); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases occur in brazilian population


HPO:

31
acheiropody:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 200500
Disease Ontology 12 DOID:0050603
Orphanet 55 ORPHA931
MESH via Orphanet 42 C536014
UMLS via Orphanet 70 C0265559
ICD10 via Orphanet 33 Q74.8
MedGen 39 C0265559
KEGG 36 H00629
ICD10 32 Q68.1
SNOMED-CT via HPO 65 258211005 371199008 253926000

Summaries for Acheiropody

NIH Rare Diseases : 49 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 radial hemimelia, bilateral and radial hemimelia, unilateral, and has symptoms including abnormality of epiphysis morphology, abnormality of the metaphysis 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. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Acheiropody

Graphical network of the top 20 diseases related to Acheiropody:



Diseases related to Acheiropody

Symptoms & Phenotypes for Acheiropody

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Acheiropody:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 absent hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0004050
4 fibular aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002990
5 absent radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0003974
6 short humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0005792
7 upper limb phocomelia 55 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 absent ulna 55 Very frequent (99-80%)
11 absent forearm 31 hallmark (90%) HP:0005632
12 aplasia of metacarpal bones 31 hallmark (90%) HP:0010048
13 aplasia of the ulna 31 hallmark (90%) HP:0003982
14 carpal bone aplasia 31 hallmark (90%) HP:0004231
15 aplasia of the phalanges of the hand 31 hallmark (90%) HP:0009802
16 lower limb peromelia 31 hallmark (90%) HP:0009820
17 aplasia of the tarsal bones 31 hallmark (90%) HP:0010509
18 absent metatarsal bone 31 hallmark (90%) HP:0010744

GenomeRNAi Phenotypes related to Acheiropody according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.32 LMBR1 ZP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.32 ZP2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.32 ZP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.32 ZP2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.32 LMBR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.32 ZP2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.32 LMBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 LMBR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.32 ZP2

MGI Mouse Phenotypes related to Acheiropody:

43
# 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

Search Clinical Trials , 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 28 LMBR1

Anatomical Context for Acheiropody

MalaCards organs/tissues related to Acheiropody:

38
Bone

Publications for Acheiropody

Articles related to Acheiropody:

# 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
# 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:

# 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)
# 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 pattern specification process GO:0007389 9.43 SHH TBX5
7 embryonic limb morphogenesis GO:0030326 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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