MCID: PRX085
MIFTS: 28

Preaxial Hallucal Polydactyly

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Preaxial Hallucal Polydactyly

MalaCards integrated aliases for Preaxial Hallucal Polydactyly:

Name: Preaxial Hallucal Polydactyly 56 71
Diabetic Embryopathy 58 71

Characteristics:

Orphanet epidemiological data:

58
diabetic embryopathy
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
? diabetes teratogenicity


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Teratologic disorders


Summaries for Preaxial Hallucal Polydactyly

MalaCards based summary : Preaxial Hallucal Polydactyly, also known as diabetic embryopathy, is related to microtia-anotia and hyperglycemia. Affiliated tissues include heart, eye and cerebellum, and related phenotypes are microtia and microcephaly

More information from OMIM: 601759

Related Diseases for Preaxial Hallucal Polydactyly

Graphical network of the top 20 diseases related to Preaxial Hallucal Polydactyly:



Diseases related to Preaxial Hallucal Polydactyly

Symptoms & Phenotypes for Preaxial Hallucal Polydactyly

Human phenotypes related to Preaxial Hallucal Polydactyly:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
4 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
7 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
8 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
9 tetralogy of fallot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001636
10 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
11 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
12 abnormality of the neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000464
13 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
14 aplasia/hypoplasia affecting the eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0008056
15 abnormality of the pulmonary artery 58 31 hallmark (90%) Very frequent (99-80%) HP:0004414
16 abnormal sacrum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005107
17 ureteral duplication 58 31 hallmark (90%) Very frequent (99-80%) HP:0000073
18 abnormal aortic morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001679
19 transposition of the great arteries 58 31 hallmark (90%) Very frequent (99-80%) HP:0001669
20 abnormal morphology of female internal genitalia 31 hallmark (90%) HP:0000008
21 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
22 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
23 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
24 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
25 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
26 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
27 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
28 spinal dysraphism 58 31 frequent (33%) Frequent (79-30%) HP:0010301
29 single umbilical artery 58 31 frequent (33%) Frequent (79-30%) HP:0001195
30 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
31 malformation of the heart and great vessels 58 Very frequent (99-80%)
32 diabetes mellitus 31 HP:0000819
33 abnormality of female internal genitalia 58 Very frequent (99-80%)
34 preaxial hand polydactyly 31 HP:0001177
35 abnormality of the nervous system 58 Frequent (79-30%)
36 preaxial foot polydactyly 31 HP:0001841

Symptoms via clinical synopsis from OMIM:

56
Limbs:
preaxial hallucal polydactyly
proximal placement of extra digit

Misc:
maternal insulin-dependent diabetes mellitus

Clinical features from OMIM:

601759

Drugs & Therapeutics for Preaxial Hallucal Polydactyly

Search Clinical Trials , NIH Clinical Center for Preaxial Hallucal Polydactyly

Genetic Tests for Preaxial Hallucal Polydactyly

Anatomical Context for Preaxial Hallucal Polydactyly

MalaCards organs/tissues related to Preaxial Hallucal Polydactyly:

40
Heart, Eye, Cerebellum, Pancreas, Brain, Spleen, Thymus

Publications for Preaxial Hallucal Polydactyly

Articles related to Preaxial Hallucal Polydactyly:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. 61 56
9132503 1997
2
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 61
32250545 2020
3
Deficiency of the Oxidative Stress-Responsive Kinase p70S6K1 Restores Autophagy and Ameliorates Neural Tube Defects in Diabetic Embryopathy. 61
32416155 2020
4
Bcl-2 expression in a diabetic embryopathy model in presence of polyamines. 61
31485886 2019
5
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. 61
30992551 2019
6
Disturbed intracellular calcium homeostasis in neural tube defects in diabetic embryopathy. 61
31092336 2019
7
[Clinical practice recommendations for diabetes in pregnancy (Update 2019)]. 61
30980163 2019
8
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. 61
30362177 2019
9
The increased activity of a transcription factor inhibits autophagy in diabetic embryopathy. 61
30312583 2019
10
Tip60- and sirtuin 2-regulated MARCKS acetylation and phosphorylation are required for diabetic embryopathy. 61
30655546 2019
11
Progress in Development of Interventions to Prevent Birth Defects in Diabetic Pregnancies. 61
31257320 2019
12
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. 61
30172433 2018
13
Congenital lumbar hernia-A feature of diabetic embryopathy? 61
30276953 2018
14
Alpha lipoic acid in obstetrics and gynecology. 61
29726290 2018
15
Embryo-Protective Effects of Cerium Oxide Nanoparticles against Gestational Diabetes in Mice. 61
30127819 2018
16
Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities? 61
29377640 2018
17
Oxidative stress-induced miR-27a targets the redox gene nuclear factor erythroid 2-related factor 2 in diabetic embryopathy. 61
29100869 2018
18
Impact of protein O-GlcNAcylation on neural tube malformation in diabetic embryopathy. 61
28894244 2017
19
Endoplasmic Reticulum Stress-Induced CHOP Inhibits PGC-1α and Causes Mitochondrial Dysfunction in Diabetic Embryopathy. 61
28482072 2017
20
Pregestational type 2 diabetes mellitus induces cardiac hypertrophy in the murine embryo through cardiac remodeling and fibrosis. 61
28412087 2017
21
Diabetes-induced effects on cardiomyocytes in chick embryonic heart micromass and mouse embryonic D3 differentiated stem cells. 61
28286266 2017
22
Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects. 61
28396396 2017
23
Heterogeneous Diagnoses Underlying Radial Ray Anomalies. 61
27987078 2017
24
Biphasic effect of alpha-linolenic acid on glucose-induced dysmorphogenesis and lipoperoxidation in whole rat embryo in culture. 61
28185855 2017
25
Reevaluation of Antioxidative Strategies for Birth Defect Prevention in Diabetic Pregnancies. 61
28824831 2016
26
Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis. 61
27038779 2016
27
The Nrf2 Activator Vinylsulfone Reduces High Glucose-Induced Neural Tube Defects by Suppressing Cellular Stress and Apoptosis. 61
26802109 2016
28
Superoxide dismutase 2 overexpression alleviates maternal diabetes-induced neural tube defects, restores mitochondrial function and suppresses cellular stress in diabetic embryopathy. 61
27130031 2016
29
Receptor for advanced glycation end products (RAGE) knockout reduces fetal dysmorphogenesis in murine diabetic pregnancy. 61
27109771 2016
30
High glucose-induced oxidative stress represses sirtuin deacetylase expression and increases histone acetylation leading to neural tube defects. 61
26896748 2016
31
The status of diabetic embryopathy. 61
27117607 2016
32
High glucose suppresses embryonic stem cell differentiation into neural lineage cells. 61
26940741 2016
33
[Clinical practice recommendations for diabetes in pregnancy (Diabetes and Pregnancy Study Group of the Austrian Diabetes Association)]. 61
27052227 2016
34
Infertility and recurrent miscarriage with complex II deficiency-dependent mitochondrial oxidative stress in animal models. 61
26944226 2016
35
New development of the yolk sac theory in diabetic embryopathy: molecular mechanism and link to structural birth defects. 61
26432466 2016
36
Identification of novel cell survival regulation in diabetic embryopathy via phospholipidomic profiling. 61
26797275 2016
37
Dominant negative FADD dissipates the proapoptotic signalosome of the unfolded protein response in diabetic embryopathy. 61
26419589 2015
38
Punicalagin exerts protective effect against high glucose-induced cellular stress and neural tube defects. 61
26453010 2015
39
Nrf2 and Nrf2-related proteins in development and developmental toxicity: Insights from studies in zebrafish (Danio rerio). 61
26130508 2015
40
Gene expression profiling of changes induced by maternal diabetes in the embryonic heart. 61
26073000 2015
41
Advances in revealing the molecular targets downstream of oxidative stress-induced proapoptotic kinase signaling in diabetic embryopathy. 61
25595581 2015
42
Cellular Stress, Excessive Apoptosis, and the Effect of Metformin in a Mouse Model of Type 2 Diabetic Embryopathy. 61
25720389 2015
43
Oxidative stress is responsible for maternal diabetes-impaired transforming growth factor beta signaling in the developing mouse heart. 61
25595579 2015
44
Decoding the oxidative stress hypothesis in diabetic embryopathy through proapoptotic kinase signaling. 61
25434839 2015
45
Effect of maternal diabetes on the embryo, fetus, and children: congenital anomalies, genetic and epigenetic changes and developmental outcomes. 61
25783684 2015
46
Ask1 gene deletion blocks maternal diabetes-induced endoplasmic reticulum stress in the developing embryo by disrupting the unfolded protein response signalosome. 61
25249581 2015
47
A novel association of biventricular cardiac noncompaction and diabetic embryopathy: case report and review of the literature. 61
25386687 2015
48
Effects of maternal dietary olive oil on pathways involved in diabetic embryopathy. 61
25246140 2014
49
Increased DNA methyltransferase 3b (Dnmt3b)-mediated CpG island methylation stimulated by oxidative stress inhibits expression of a gene required for neural tube and neural crest development in diabetic pregnancy. 61
24834974 2014
50
Hyperglycemia induces embryopathy, even in the absence of systemic maternal diabetes: an in vivo test of the fuel mediated teratogenesis hypothesis. 61
24721120 2014

Variations for Preaxial Hallucal Polydactyly

Expression for Preaxial Hallucal Polydactyly

Search GEO for disease gene expression data for Preaxial Hallucal Polydactyly.

Pathways for Preaxial Hallucal Polydactyly

GO Terms for Preaxial Hallucal Polydactyly

Sources for Preaxial Hallucal Polydactyly

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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