ACHP
MCID: ACH001
MIFTS: 42

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 75 13 15 40
Acheiropodia 57 12 76 53 59 75 37 29 6
Achp 57 53 75
Acheiropody, Brazilian Type 57 53
Foot Deformities, Congenital 44
Hand Deformities, Congenital 44
Acheiropody Brazilian Type 75
Horn-Kolb Syndrome 12
Horn Kolb Syndrome 53
Hornkolb Syndrome 76

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:

OMIM 57 200500
Disease Ontology 12 DOID:0050603
Orphanet 59 ORPHA931
UMLS via Orphanet 74 C0265559
MESH via Orphanet 45 C536014
ICD10 via Orphanet 34 Q74.8
MedGen 42 C0265559
KEGG 37 H00629
ICD10 33 Q68.1

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 radial hemimelia and tibia, hypoplasia or aplasia of, with polydactyly. 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 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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:

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

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 absent ulna 59 Very frequent (99-80%)
11 absent forearm 32 hallmark (90%) HP:0005632
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

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

26
# 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:

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

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 29 LMBR1

Anatomical Context for Acheiropody

MalaCards organs/tissues related to Acheiropody:

41
Bone

Publications for Acheiropody

Articles related to Acheiropody:

(show all 17)
# Title Authors Year
1
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. ( 23569502 )
2012
2
Acheiropodia: new cases from Brazil. ( 9788736 )
1998
3
Acheiropody. A report of two cases. ( 7929505 )
1994
4
Acheiropodia: report on four new Brazilian patients. ( 2363435 )
1990
5
Variable expressivity of the acheiropodia gene. ( 6660253 )
1983
6
Age, area, and acheiropody. ( 7286983 )
1981
7
Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia. ( 7018242 )
1981
8
Acheiropodia in Junqueiro sonnet? ( 7332032 )
1981
9
Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects. ( 517582 )
1979
10
Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study. ( 263446 )
1978
11
Urinary mucopolysaccharides in acheiropodia. ( 906767 )
1977
12
Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling. ( 126945 )
1975
13
Genetics of acheiropodia ("The handless and footless families of Brazil"): IV. Sex ratio, consanguinity and birth order. ( 1052763 )
1975
14
Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. ( 1155460 )
1975
15
Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics. ( 1163539 )
1975
16
Further data on acheiropody. ( 4659166 )
1972
17
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
2 LMBR1 NM_022458.3(LMBR1): c.180-2465_319+2696del deletion Pathogenic GRCh38 Chromosome 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 SHH TBX5
2 10.29 SHH TBX5

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 SHH TBX3 TBX5
2 regulation of cell proliferation GO:0042127 9.54 SHH TBX3
3 negative regulation of cell migration GO:0030336 9.52 SHH TBX5
4 lung development GO:0030324 9.49 SHH TBX5
5 roof of mouth development GO:0060021 9.48 SHH TBX3
6 pattern specification process GO:0007389 9.46 SHH TBX5
7 heart looping GO:0001947 9.43 SHH TBX3
8 embryonic limb morphogenesis GO:0030326 9.4 SHH TBX5
9 embryonic hindlimb morphogenesis GO:0035116 9.37 SHH TBX3
10 cardiac muscle cell differentiation GO:0055007 9.32 TBX3 TBX5
11 male genitalia development GO:0030539 9.26 SHH TBX3
12 forelimb morphogenesis GO:0035136 9.16 TBX3 TBX5
13 embryonic digit morphogenesis GO:0042733 9.13 LMBR1 SHH TBX3
14 embryonic forelimb morphogenesis GO:0035115 8.8 SHH TBX3 TBX5

Sources for Acheiropody

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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