MCID: AML065
MIFTS: 31

Amelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Amelia

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 mTOR signaling pathway (KEGG) and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include breast, bone and lung, and related phenotypes are embryo and limbs/digits/tail

Related Diseases for Amelia

Diseases in the Amelia family:

Amelia, Autosomal Recessive

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 tetra-amelia syndrome 12.8
2 brachial amelia, cleft lip, and holoprosencephaly 12.6
3 amelia, autosomal recessive 12.4
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 congenital hydrocephalus 10.1
38 facial cleft 10.1
39 tetraamelia-multiple malformations syndrome 10.1
40 microtia 10.1
41 coloboma of macula 10.0
42 humeroradial synostosis 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 dk phocomelia syndrome 10.0
49 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0
50 femur-fibula-ulna 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.13 NSDHL WNT3 WNT7A
2 limbs/digits/tail MP:0005371 8.8 NSDHL 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:

41
Breast, Bone, Lung, Uterus, Testes, Heart, Thymus

Publications for Amelia

Articles related to Amelia:

(show top 50) (show all 236)
# Title Authors PMID Year
1
The influence of welfare state factors on nursing professionalization and nursing human resources: A time-series cross-sectional analysis, 2000-2015. 38
31396994 2019
2
Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia. 38
31063215 2019
3
Managing a Pregnancy With Maternal Amelia. 38
30969202 2019
4
Multiple imputation with sequential penalized regression. 38
29451087 2019
5
Reference tables with centiles of limb to body height ratios of healthy human adults for assessing potential thalidomide embryopathy. 38
30869735 2019
6
Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods. 38
30589520 2019
7
Monitoring the morphological integrity of neotropical anurans. 38
30474816 2019
8
Broaden your horizons with a BVA travel grant. 38
30606874 2019
9
Collaborative Establishment of Difficult Vascular Access for General Anesthetic Management of an Adult With Tetra-Amelia: A Case Report. 38
29985838 2018
10
The contribution of Italian migrant women in the New World to health and safety at work. 38
30378590 2018
11
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 38
29769720 2018
12
Identification of a putative man-made object from an underwater crash site using CAD model superimposition. 38
29494869 2018
13
Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve. 38
28704301 2018
14
Nominations open for BVA Council regional representatives. 38
29192050 2017
15
BVA Policy Committee welcomes a new member. 38
28986497 2017
16
BVA Council - new regional representatives. 38
28255062 2017
17
Time to vote for new representatives on BVA Council. 38
28062783 2017
18
BVA's policy priorities for 2016/17. 38
27811038 2016
19
Poetics in the shadow of the other's language: The melancholic discourse of the trilingual poet Amelia Rosselli. 38
27436714 2016
20
Tetra-Amelia Syndrome. 38
27672584 2016
21
Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia. 38
27513971 2016
22
An Analysis of Paid Family and Sick Leave Advocacy in Louisiana: Lessons Learned. 38
27546568 2016
23
Multiple imputation for time series data with Amelia package. 38
26904578 2016
24
Amelia: A Case Report and Literature Review. 38
26635946 2015
25
Proceedings from the 6th Annual University of Calgary Leaders in Medicine Research Symposium. 38
26654516 2015
26
Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus). 38
26363291 2015
27
Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). 38
26171959 2015
28
Maturation and experience in action representation: Bilateral deficits in unilateral congenital amelia. 38
26092768 2015
29
Mi-1-Mediated Nematode Resistance in Tomatoes is Broken by Short-Term Heat Stress but Recovers Over Time. 38
26170475 2015
30
[Imaging features of humerus, radius and ulna rare malformation]. 38
26506715 2015
31
Comparison of content and in vitro bioaccessibility of provitamin A carotenoids in home cooked and commercially processed orange fleshed sweet potato (Ipomea batatas Lam). 38
25575485 2015
32
Omphalocele major with absent lower limb. 38
25829718 2015
33
[Thalidomide teratogenicity and its direct target identification]. 38
25626320 2015
34
A case of congenital left brachium agenesis (amelia, brachiomelia monobrachium) in Sahel goat ecotype. 38
26738256 2015
35
Familial amelia as reported by Michaud et al. (OMIM-601360): one more patient endorsing the phenotype. 38
25075452 2014
36
Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. 38
25166858 2014
37
A third case of amelia in Morelet's crocodile from the Yucatan Peninsula. 38
24991853 2014
38
Reports to the Vaccine Adverse Event Reporting System after hepatitis A and hepatitis AB vaccines in pregnant women. 38
24378675 2014
39
Amelia-meromelia sequence with atrial septal defect-a rare occurrence. 38
24328941 2014
40
Hypoglossia-hypodactyly syndrome with short stature - a case report. 38
24959494 2014
41
Bilateral congenital deficiency of tibia: a case report. 38
25547889 2014
42
Assessment of strength & velocity parameters of hip joint muscles in rehabilitation of a patient with lower limb amelia. Case study. 38
24728798 2014
43
The Amelia Bedelia effect: world knowledge and the goal bias in language acquisition. 38
23787375 2013
44
How can registries contribute to the development and evaluation of CNS therapeutics? 38
23882432 2013
45
Treatment of chronic patellar ligament lesion with autograft and v-y quadricepsplasty. 38
31214538 2013
46
Facial cleft with Amelia: a Nigerian case report. 38
23480997 2013
47
Eloise Amelia Kahn's Birth Story. 38
24421599 2013
48
Examining conspiracist beliefs about the disappearance of Amelia Earhart. 38
24837176 2012
49
Two successful national breast cancer symposia now merged and are made even better: an invitation to join us at Amelia Island, Florida. 38
22957994 2012
50
Public attitudes and risk perception toward land application of biosolids within the south-eastern United States. 38
22325641 2012

Variations for Amelia

Expression for Amelia

Search GEO for disease gene expression data for Amelia.

Pathways for Amelia

Pathways related to Amelia according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 WNT7A WNT3
2
Show member pathways
11.99 WNT7A WNT3
3 11.93 WNT7A WNT3
4
Show member pathways
11.93 WNT7A WNT3
5
Show member pathways
11.91 WNT7A WNT3
6 11.86 WNT7A WNT3
7
Show member pathways
11.82 WNT7A WNT3
8 11.8 WNT7A WNT3
9 11.69 WNT7A WNT3
10 11.64 WNT7A WNT3
11
Show member pathways
11.57 WNT7A WNT3
12 11.52 WNT7A WNT3
13
Show member pathways
11.51 WNT7A WNT3
14 11.47 WNT7A WNT3
15 11.32 WNT7A WNT3
16 10.93 WNT7A WNT3
17
Show member pathways
10.7 WNT7A WNT3
18 10.07 WNT7A WNT3

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 9.26 WNT7A WNT3
2 endoplasmic reticulum lumen GO:0005788 9.16 WNT7A WNT3
3 Golgi lumen GO:0005796 8.96 WNT7A WNT3
4 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 Wnt signaling pathway GO:0016055 9.4 WNT7A WNT3
2 neuron differentiation GO:0030182 9.37 WNT7A WNT3
3 canonical Wnt signaling pathway GO:0060070 9.32 WNT7A WNT3
4 cell fate commitment GO:0045165 9.26 WNT7A WNT3
5 limb development GO:0060173 9.16 WNT7A WNT3
6 embryonic forelimb morphogenesis GO:0035115 8.96 WNT7A WNT3
7 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 signaling receptor binding GO:0005102 9.16 WNT7A WNT3
2 frizzled binding GO:0005109 8.96 WNT7A WNT3
3 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 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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