Thyroid ectopia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr: 95712
OMIM Id: 218700
225250
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14.2 of 100 000 [Orphanet]
Inheritance:
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital hypothyroidism due to developmental anomaly
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
2
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
3
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
4
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
5
 (HPO:0004491) Large posterior fontanelle 3 / 7739
6
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
7
 (HPO:0001254) Lethargy 104 / 7739
8
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
9
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
10
 (HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
11
 (HPO:0005990) Thyroid hypoplasia Very frequent [Orphanet] 21 / 7739
12
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
13
 (HPO:0000853) Goiter 39 / 7739
14
 (HPO:0008191) Thyroid agenesis 11 / 7739
15
 (HPO:0100028) Ectopic thyroid 3 / 7739
16
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
17
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
18
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
19
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
20
 (HPO:0002019) Constipation 194 / 7739
21
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
22
 (HPO:0003270) Abdominal distention 46 / 7739
23
 (HPO:0001510) Growth delay 295 / 7739
24
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (HPO:0000958) Dry skin 152 / 7739
27
 (HPO:0001662) Bradycardia 41 / 7739
28
 (HPO:0002045) Hypothermia 27 / 7739
29
 (HPO:0002904) Hyperbilirubinemia 32 / 7739
30
 (HPO:0001615) Hoarse cry 5 / 7739
31
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
32
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: