MCID: ACH001
MIFTS: 38

Acheiropody

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

Aliases & Classifications for Acheiropody

MalaCards integrated aliases for Acheiropody:

Name: Acheiropody 54 12 50 56 71 13 14
Acheiropodia 12 50 56 71 29
Achp 50 71
Foot Deformities, Congenital 42
Hand Deformities, Congenital 42
Acheiropody, Brazilian Type 50
Acheiropody Brazilian Type 71
Horn-Kolb Syndrome 12
Horn Kolb Syndrome 50

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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
majority of cases occur in brazilian population


HPO:

32
acheiropody:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 200500
Disease Ontology 12 DOID:0050603
Orphanet 56 ORPHA931
MESH via Orphanet 43 C536014
UMLS via Orphanet 70 C0265559
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 muscular fibrosis multifocal obstructed vessels and macrodactyly of toes, and has symptoms including fibular aplasia, absent radius and short humerus. 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 embryo

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.

OMIM : 54
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)

Wikipedia : 72 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 via clinical synopsis from OMIM:

54

Skeletal- Limbs:
radial aplasia
fibular 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:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fibular aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002990
2 absent radius 56 32 hallmark (90%) Very frequent (99-80%) HP:0003974
3 short humerus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005792
4 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
5 absent hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0004050
6 upper limb phocomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0009813
7 absent forearm 32 hallmark (90%) HP:0005632
8 short tibia 32 hallmark (90%) HP:0005736
9 absent ulna 56 Very frequent (99-80%)
10 abnormality of the metaphyses 56 Very frequent (99-80%)
11 absent toe 32 hallmark (90%) HP:0010760
12 aplasia of metacarpal bones 32 hallmark (90%) HP:0010048
13 aplasia of the ulna 32 hallmark (90%) HP:0003982
14 carpal bone aplasia 32 hallmark (90%) HP:0004231
15 aplasia of the phalanges of the hand 32 hallmark (90%) HP:0009802
16 lower limb peromelia 32 hallmark (90%) HP:0009820
17 aplasia of the tarsal bones 32 hallmark (90%) HP:0010509
18 absent metatarsal bone 32 hallmark (90%) HP:0010744
19 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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

26
id 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:

44
id 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:

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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