Diabetic embryopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 126
OrphanetNr: 1926
OMIM Id:
ICD-10: P00.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Antenatal
Neonatal
23653578 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Maternal disease-related embryofetopathy
 -Rare developmental defect during embryogenesis
Non-familial hypertrophic cardiomyopathy
 -Rare cardiac disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Teratogenic Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Comment:

Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. In infants of women with established insulin-dependent diabetes mellitus, the risk of congenital malformations is 10 times higher than that in the general population, and the rate of stillbirths is five times higher than that in the general population (Orphanet).

Symptom Information: Sort by abundance 

1
 (HPO:0000707) Abnormality of the nervous system 8092185 IBIS 61 / 7739
2
 (HPO:0001627) Abnormal heart morphology 7951674; 8092185 IBIS 19 / 7739
3
 (HPO:0000110) Renal dysplasia 23653578 IBIS 44 / 7739
4
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 11223271 IBIS 86 / 7739
5
 (HPO:0000113) Polycystic kidney dysplasia 11460261 IBIS 75 / 7739
6
 (HPO:0000104) Renal agenesis 7051398; 7951674 IBIS 68 / 7739
7
 (HPO:0000062) Ambiguous genitalia 8623868 IBIS 74 / 7739
8
 (HPO:0000811) Abnormal external genitalia 7951674 IBIS 6 / 7739
9
 (HPO:0012584) Bilateral renal hypoplasia 11223271 IBIS 2 / 7739
10
 (HPO:0000069) Abnormality of the ureter Very frequent [Orphanet] 7051398; 7951674; 8623868 IBIS 47 / 7739
11
 (HPO:0000047) Hypospadias 9274545; 11223271 IBIS 250 / 7739
12
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 23653578 IBIS 127 / 7739
13
 (HPO:0012620) Cloacal abnormality 23653578 IBIS 1 / 7739
14
 (HPO:0012572) Ureter duplex 7051398; 7951674; 8623868 IBIS 1 / 7739
15
 (HPO:0000075) Renal duplication 8623868 IBIS 5 / 7739
16
 (HPO:0008740) Longitudinal vaginal septum 11223271 IBIS 3 / 7739
17
 (HPO:0005999) Ureteral atresia 11460261 IBIS 5 / 7739
18
 (HPO:0002836) Bladder exstrophy 11223271 IBIS 8 / 7739
19
 (HPO:0000126) Hydronephrosis 7951674; 11223271; 8623868 IBIS 119 / 7739
20
 (HPO:0008661) Urethral stenosis 11223271 IBIS 9 / 7739
21
 (HPO:0000122) Unilateral renal agenesis 11223271; 8623868 IBIS 24 / 7739
22
 (HPO:0003762) Uterus didelphys 11223271 IBIS 8 / 7739
23
 (HPO:0000107) Renal cyst 11223271 IBIS 126 / 7739
24
 (HPO:0000204) Cleft upper lip 11223271; 23653578; 23702113 IBIS 193 / 7739
25
 (HPO:0011332) Hemifacial hypoplasia 23653578; 23702113 IBIS 2 / 7739
26
 (HPO:0001363) Craniosynostosis 11460261 IBIS 132 / 7739
27
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 7951674; 8090386 IBIS 832 / 7739
28
 (HPO:0000175) Cleft palate 7951674; 11223271; 23653578; 23702113 IBIS 349 / 7739
29
 (HPO:0001305) Dandy-Walker malformation 8623868 IBIS 79 / 7739
30
 (HPO:0002084) Encephalocele 7951674; 8623868; 8090386 IBIS 70 / 7739
31
 (HPO:0000929) Abnormality of the skull 11223271 IBIS 53 / 7739
32
 (HPO:0000453) Choanal atresia 11223271 IBIS 76 / 7739
33
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 7951674; 11223271; 23653578 IBIS 298 / 7739
34
 (HPO:0001999) Abnormal facial shape 11460261; 23653578 IBIS 169 / 7739
35
 (HPO:0010297) Bifid tongue 23653578 IBIS 17 / 7739
36
 (HPO:0000589) Coloboma 11223271 IBIS 47 / 7739
37
 (HPO:0100842) Septo-optic dysplasia 23653578 IBIS 8 / 7739
38
 (HPO:0000478) Abnormality of the eye 7951674 IBIS 126 / 7739
39
 (HPO:0006934) Congenital nystagmus 8090386 IBIS 10 / 7739
40
 (HPO:0000618) Blindness 8623868 IBIS 124 / 7739
41
 (HPO:0008551) Microtia 23653578; 23702113 IBIS 98 / 7739
42
 (HPO:0009892) Anotia 25386687 IBIS 8 / 7739
43
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 25386687; 23653578 IBIS 67 / 7739
44
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 23702113 IBIS 539 / 7739
45
 (HPO:0002251) Aganglionic megacolon 11223271 IBIS 78 / 7739
46
 (HPO:0010305) Absence of the sacrum Frequent [IBIS] 25386687; 7051398; 11223271; 15101609; 23653578; 23702113 IBIS 17 / 7739
47
 (HPO:0010497) Sirenomelia 23653578 IBIS 6 / 7739
48
 (HPO:0002804) Arthrogryposis multiplex congenita 7951674; 11223271 IBIS 93 / 7739
49
 (HPO:0001841) Preaxial foot polydactyly 8092185 IBIS 24 / 7739
50
 (HPO:0008455) Dysplastic sacrum 8090386 IBIS 2 / 7739
51
 (HPO:0001177) Preaxial hand polydactyly 11223271 IBIS 59 / 7739
52
 (HPO:0010442) Polydactyly 11223271 IBIS 69 / 7739
53
 (HPO:0002983) Micromelia 11223271 IBIS 130 / 7739
54
 (HPO:0005107) Abnormality of the sacrum Very frequent [Orphanet] 11223271 IBIS 18 / 7739
55
 (HPO:0010301) Spinal dysraphism Frequent [Orphanet] 7951674; 23653578 IBIS 14 / 7739
56
 (HPO:0001161) Hand polydactyly 11460261 IBIS 71 / 7739
57
 (HPO:0002414) Spina bifida 7951674; 23702113 IBIS 47 / 7739
58
 (HPO:0000924) Abnormality of the skeletal system 7951674 IBIS 114 / 7739
59
 (HPO:0001829) Foot polydactyly 11460261 IBIS 41 / 7739
60
 (HPO:0009601) Aplasia/Hypoplasia of the thumb 23653578 IBIS 80 / 7739
61
 (HPO:0003316) Butterfly vertebrae 11460261 IBIS 6 / 7739
62
 (HPO:0005613) Aplasia/hypoplasia of the femur 7051398 IBIS 5 / 7739
63
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 23653578 IBIS 95 / 7739
64
 (HPO:0002814) Abnormality of the lower limb 11460261 IBIS 23 / 7739
65
 (HPO:0002937) Hemivertebrae 11460261 IBIS 41 / 7739
66
 (HPO:0000925) Abnormality of the vertebral column 7951674; 11223271 IBIS 20 / 7739
67
 (HPO:0002650) Scoliosis 11460261 IBIS 705 / 7739
68
 (HPO:0002818) Abnormality of the radius 11460261 IBIS 96 / 7739
69
 (HPO:0011024) Abnormality of the gastrointestinal tract 7951674 IBIS 5 / 7739
70
 (HPO:0011100) Intestinal atresia 11223271 IBIS 2 / 7739
71
 (HPO:0001743) Abnormality of the spleen 11223271; 8090386 IBIS 37 / 7739
72
 (HPO:0001696) Situs inversus totalis 7051398; 11223271 IBIS 44 / 7739
73
 (HPO:0005214) Intestinal obstruction 8623868 IBIS 35 / 7739
74
 (HPO:0002023) Anal atresia 11223271; 23653578 IBIS 135 / 7739
75
 (HPO:0002575) Tracheoesophageal fistula 11460261 IBIS 54 / 7739
76
 (HPO:0002566) Intestinal malrotation 11223271; 11460261 IBIS 89 / 7739
77
 (HPO:0001539) Omphalocele 11460261 IBIS 102 / 7739
78
 (HPO:0000776) Congenital diaphragmatic hernia 8090386 IBIS 36 / 7739
79
 (HPO:0012440) Abnormal biliary tract morphology 11223271 IBIS 2 / 7739
80
 (HPO:0002032) Esophageal atresia 11223271 IBIS 19 / 7739
81
 (HPO:0003363) Abdominal situs inversus 7951674 IBIS 19 / 7739
82
 (HPO:0002025) Anal stenosis 11223271; 23653578 IBIS 23 / 7739
83
 (HPO:0005912) Biliary atresia 11460261 IBIS 5 / 7739
84
 (HPO:0001520) Large for gestational age 9274545 IBIS 34 / 7739
85
 (HPO:0001719) Double outlet right ventricle 8090386 IBIS 12 / 7739
86
 (HPO:0001674) Complete atrioventricular canal defect 11460261 IBIS 11 / 7739
87
 (HPO:0001651) Dextrocardia 11460261 IBIS 38 / 7739
88
 (HPO:0004935) Pulmonary artery atresia 11460261 IBIS 12 / 7739
89
 (HPO:0011662) Tricuspid atresia 11460261 IBIS 4 / 7739
90
 (HPO:0001660) Truncus arteriosus 11460261 IBIS 21 / 7739
91
 (HPO:0004415) Pulmonary artery stenosis 8090386 IBIS 25 / 7739
92
 (HPO:0001669) Transposition of the great arteries Very frequent [Orphanet] 7051398; 11460261; 8090386 IBIS 36 / 7739
93
 (HPO:0001636) Tetralogy of Fallot Very frequent [Orphanet] 11460261; 23702113 IBIS 104 / 7739
94
 (HPO:0001639) Hypertrophic cardiomyopathy 23653578 IBIS 137 / 7739
95
 (HPO:0004762) Hypoplasia of right ventricle 11460261 IBIS 2 / 7739
96
 (HPO:0001643) Patent ductus arteriosus 8090386 IBIS 228 / 7739
97
 (HPO:0011611) Interrupted aortic arch 8090386 IBIS 10 / 7739
98
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 11460261 IBIS 50 / 7739
99
 (HPO:0001631) Atria septal defect 7051398; 7951674; 11223271; 23702113 IBIS 274 / 7739
100
 (HPO:0001680) Coarctation of aorta 11460261 IBIS 57 / 7739
101
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 7051398; 7951674; 11223271; 11460261; 8623868; 23702113 IBIS 316 / 7739
102
 (HPO:0001626) Abnormality of the cardiovascular system 9274545; 11223271 IBIS 73 / 7739
103
 (HPO:0001961) Hypoplastic heart 23702113 IBIS 9 / 7739
104
 (HPO:0001638) Cardiomyopathy 11460261 IBIS 192 / 7739
105
 (HPO:0001642) Pulmonic stenosis 11460261 IBIS 89 / 7739
106
 (HPO:0001873) Thrombocytopenia 11460261 IBIS 224 / 7739
107
 (HPO:0002901) Hypocalcemia 7051398 IBIS 56 / 7739
108
 (HPO:0001943) Hypoglycemia 7051398 IBIS 131 / 7739
109
 (HPO:0002089) Pulmonary hypoplasia 11223271 IBIS 80 / 7739
110
 (HPO:0002098) Respiratory distress 7051398 IBIS 75 / 7739
111
 (HPO:0002777) Tracheal stenosis 11460261 IBIS 35 / 7739
112
 (HPO:0005359) Aplasia of the thymus 23653578 IBIS 6 / 7739
113
 (HPO:0002410) Aqueductal stenosis 8090386 IBIS 19 / 7739
114
 (MedDRA:10012979) DiGeorge's syndrome 11460261 IBIS 1 / 7739
115
 (HPO:0012721) Venous malformation 11223271 IBIS 3 / 7739
116
 (HPO:0012818) Biventricular noncompaction cardiomyopathy 25386687 IBIS 1 / 7739
117
 (MedDRA:10066022) VACTERL syndrome 23653578 IBIS 1 / 7739
118
 (HPO:0003811) Neonatal death 9274545 IBIS 44 / 7739
119
 (OMIM) Limb reduction 11223271 IBIS 2 / 7739
120
 (MedDRA:10059387) Caudal regression syndrome 7051398; 7951674; 8092185; 11460261 IBIS 2 / 7739
121
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 7951674; 11223271; 23653578; 8090386 IBIS 278 / 7739
122
 (HPO:0030680) Abnormality of cardiovascular system morphology 11460261; 23653578 IBIS 355 / 7739
123
 (HPO:0001360) Holoprosencephaly 7951674; 23653578; 23702113 IBIS 29 / 7739
124
 (MedDRA:10056354) De Lange's syndrome 11460261 IBIS 1 / 7739
125
 (MedDRA:10037122) Pseudohermaphroditism 7951674 IBIS 2 / 7739
126
 (HPO:0002323) Anencephaly 7051398; 7951674; 11223271; 8623868; 8090386; 23702113 IBIS 28 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: