MCID: AML065
MIFTS: 30

Amelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Amelia

MalaCards integrated aliases for Amelia:

Name: Amelia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q73.0
UMLS via Orphanet 72 C0002447
Orphanet 58 ORPHA294925

Summaries for Amelia

MalaCards based summary : Amelia is related to tetra-amelia syndrome and brachial amelia, cleft lip, and holoprosencephaly. An important gene associated with Amelia is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and Proteoglycans in cancer. Affiliated tissues include bone, heart and breast, and related phenotypes are embryo and limbs/digits/tail

Related Diseases for Amelia

Diseases related to Amelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 tetra-amelia syndrome 12.8
2 brachial amelia, cleft lip, and holoprosencephaly 12.6
3 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 12.6
4 amelia of upper limb 12.3
5 amelia and terminal transverse hemimelia 12.3
6 obsolete: amelia of lower limb, bilateral 12.1
7 obsolete: amelia of lower limb, unilateral 12.1
8 obsolete: amelia of upper limb, unilateral 12.1
9 obsolete: amelia of upper limb, bilateral 12.1
10 amelia of lower limb 12.1
11 tetraamelia syndrome 1 11.7
12 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.2
13 fetal thalidomide syndrome 11.2
14 splenogonadal fusion limb defects micrognatia 11.2
15 madokoro ohdo sonoda syndrome 11.2
16 phocomelia 10.4
17 roberts syndrome 10.4
18 cleft lip 10.3
19 heart septal defect 10.3
20 scoliosis 10.3
21 vacterl association 10.3
22 atrial heart septal defect 10.3
23 cleft palate, isolated 10.2
24 renal hypodysplasia/aplasia 1 10.2
25 sc phocomelia syndrome 10.2
26 ectodermal dysplasia 10.2
27 holoprosencephaly 10.2
28 cleft lip/palate 10.2
29 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 10.1
30 ulna and fibula, absence of, with severe limb deficiency 10.1
31 patent ductus arteriosus 1 10.1
32 tetraamelia syndrome 2 10.1
33 omphalocele 10.1
34 hydrocephalus 10.1
35 potter's syndrome 10.1
36 dysostosis 10.1
37 tetraamelia-multiple malformations syndrome 10.1
38 facial cleft 10.1
39 microtia 10.1
40 coloboma of macula 10.0
41 humeroradial synostosis 10.0
42 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.0
43 hemifacial microsomia 10.0
44 osteoporosis 10.0
45 split-hand/foot malformation 1 10.0
46 chromosome 2q35 duplication syndrome 10.0
47 anencephaly 10.0
48 constricting bands, congenital 10.0
49 dandy-walker syndrome 10.0
50 dk phocomelia syndrome 10.0

Graphical network of the top 20 diseases related to Amelia:



Diseases related to Amelia

Symptoms & Phenotypes for Amelia

MGI Mouse Phenotypes related to Amelia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 NSDHL TBX4 WNT3 WNT7A
2 limbs/digits/tail MP:0005371 8.92 NSDHL TBX4 WNT3 WNT7A

Drugs & Therapeutics for Amelia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Mental and Computer-aided Training of Reaching and Grasping Movements on Motor Control Processes in People With Bilateral Upper Limb Congenital Transverse Deficiency Recruiting NCT04048083
2 Evaluation of Automated Breast Ultrasound as an Adjunct to Screening Digital Breast Tomosynthesis in Women With Dense Breasts (AMELIA) Withdrawn NCT03616457

Search NIH Clinical Center for Amelia

Genetic Tests for Amelia

Anatomical Context for Amelia

MalaCards organs/tissues related to Amelia:

40
Bone, Heart, Breast, Lung, Uterus, Testes, Thymus

Publications for Amelia

Articles related to Amelia:

(show top 50) (show all 242)
# Title Authors PMID Year
1
Selected Lectures & Abstracts from the Italian Society of Pediatric Allergy and Immunology Congress, 16-18 May 2019, Milan, Italy. Associate Guest Editors: Elena Chiappini and Amelia Licari. Guest Editor: Gian Luigi Marseglia. 61
32017210 2020
2
Cast your vote for a voice on BVA Council. 61
32001598 2020
3
Presence of congenital anomalies in three dog litters. 61
32003081 2020
4
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 61
31761294 2019
5
…or nominate someone for a BVA award. 61
31806849 2019
6
Gender equality policies, nursing professionalization, and the nursing workforce: A cross-sectional, time-series analysis of 22 countries, 2000-2015. 61
31493758 2019
7
Reference tables with centiles of limb to body height ratios of healthy human adults for assessing potential thalidomide embryopathy. 61
30869735 2019
8
New members for BVA's committees. 61
31582505 2019
9
The influence of welfare state factors on nursing professionalization and nursing human resources: A time-series cross-sectional analysis, 2000-2015. 61
31396994 2019
10
Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia. 61
31063215 2019
11
Managing a Pregnancy With Maternal Amelia. 61
30969202 2019
12
Multiple imputation with sequential penalized regression. 61
29451087 2019
13
Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods. 61
30589520 2019
14
Monitoring the morphological integrity of neotropical anurans. 61
30474816 2019
15
Collaborative Establishment of Difficult Vascular Access for General Anesthetic Management of an Adult With Tetra-Amelia: A Case Report. 61
29985838 2018
16
The contribution of Italian migrant women in the New World to health and safety at work. 61
30378590 2018
17
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 61
29769720 2018
18
Identification of a putative man-made object from an underwater crash site using CAD model superimposition. 61
29494869 2018
19
Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve. 61
28704301 2018
20
Nominations open for BVA Council regional representatives. 61
29192050 2017
21
BVA Policy Committee welcomes a new member. 61
28986497 2017
22
BVA Council - new regional representatives. 61
28255062 2017
23
Time to vote for new representatives on BVA Council. 61
28062783 2017
24
BVA's policy priorities for 2016/17. 61
27811038 2016
25
Poetics in the shadow of the other's language: The melancholic discourse of the trilingual poet Amelia Rosselli. 61
27436714 2016
26
Tetra-Amelia Syndrome. 61
27672584 2016
27
Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia. 61
27513971 2016
28
An Analysis of Paid Family and Sick Leave Advocacy in Louisiana: Lessons Learned. 61
27546568 2016
29
Multiple imputation for time series data with Amelia package. 61
26904578 2016
30
Amelia: A Case Report and Literature Review. 61
26635946 2015
31
Proceedings from the 6th Annual University of Calgary Leaders in Medicine Research Symposium. 61
26654516 2015
32
Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus). 61
26363291 2015
33
Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). 61
26171959 2015
34
Maturation and experience in action representation: Bilateral deficits in unilateral congenital amelia. 61
26092768 2015
35
Mi-1-Mediated Nematode Resistance in Tomatoes is Broken by Short-Term Heat Stress but Recovers Over Time. 61
26170475 2015
36
[Imaging features of humerus, radius and ulna rare malformation]. 61
26506715 2015
37
Comparison of content and in vitro bioaccessibility of provitamin A carotenoids in home cooked and commercially processed orange fleshed sweet potato (Ipomea batatas Lam). 61
25575485 2015
38
Omphalocele major with absent lower limb. 61
25829718 2015
39
[Thalidomide teratogenicity and its direct target identification]. 61
25626320 2015
40
A case of congenital left brachium agenesis (amelia, brachiomelia monobrachium) in Sahel goat ecotype. 61
26738256 2015
41
Familial amelia as reported by Michaud et al. (OMIM-601360): one more patient endorsing the phenotype. 61
25075452 2014
42
Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. 61
25166858 2014
43
A third case of amelia in Morelet's crocodile from the Yucatan Peninsula. 61
24991853 2014
44
Reports to the Vaccine Adverse Event Reporting System after hepatitis A and hepatitis AB vaccines in pregnant women. 61
24378675 2014
45
Amelia-meromelia sequence with atrial septal defect-a rare occurrence. 61
24328941 2014
46
Hypoglossia-hypodactyly syndrome with short stature - a case report. 61
24959494 2014
47
Bilateral congenital deficiency of tibia: a case report. 61
25547889 2014
48
Assessment of strength & velocity parameters of hip joint muscles in rehabilitation of a patient with lower limb amelia. Case study. 61
24728798 2014
49
The Amelia Bedelia effect: world knowledge and the goal bias in language acquisition. 61
23787375 2013
50
How can registries contribute to the development and evaluation of CNS therapeutics? 61
23882432 2013

Variations for Amelia

Expression for Amelia

Search GEO for disease gene expression data for Amelia.

Pathways for Amelia

GO Terms for Amelia

Cellular components related to Amelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.16 WNT7A WNT3
2 Golgi lumen GO:0005796 8.96 WNT7A WNT3
3 endocytic vesicle membrane GO:0030666 8.62 WNT7A WNT3

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.61 WNT7A WNT3 TBX4
2 angiogenesis GO:0001525 9.48 WNT7A TBX4
3 Wnt signaling pathway GO:0016055 9.46 WNT7A WNT3
4 neuron differentiation GO:0030182 9.4 WNT7A WNT3
5 canonical Wnt signaling pathway GO:0060070 9.37 WNT7A WNT3
6 cell fate commitment GO:0045165 9.32 WNT7A WNT3
7 embryonic limb morphogenesis GO:0030326 9.26 WNT7A TBX4
8 limb development GO:0060173 9.16 WNT7A WNT3
9 embryonic forelimb morphogenesis GO:0035115 8.96 WNT7A WNT3
10 embryonic hindlimb morphogenesis GO:0035116 8.62 WNT7A WNT3

Molecular functions related to Amelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 8.96 WNT7A WNT3
2 receptor ligand activity GO:0048018 8.62 WNT7A WNT3

Sources for Amelia

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
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