Congenital hypothyroidism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 44
OrphanetNr: 442
OMIM Id:
ICD-10: E00
E03.0
E03.1
UMLs:
MeSH: D003409
MedDRA: 10010510
Snomed: 190268003

Prevalence, inheritance and age of onset:

Prevalence: 29 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare endocrine growth disease
 -Rare endocrine disease
Rare hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0000080) Abnormality of reproductive system physiology Occasional [Orphanet] 6 / 7739
3
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
4
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
5
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
6
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
7
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
8
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
9
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
10
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
11
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
12
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
13
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
14
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
15
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
16
 (HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
17
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
18
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
19
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
20
 (HPO:0000853) Goiter Occasional [Orphanet] 39 / 7739
21
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
22
 (HPO:0005990) Thyroid hypoplasia Very frequent [Orphanet] 21 / 7739
23
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
24
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
25
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
26
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
27
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
28
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
29
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
32
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
33
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
34
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
35
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
36
 (HPO:0002615) Hypotension Occasional [Orphanet] 52 / 7739
37
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
38
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
39
 (HPO:0002045) Hypothermia Frequent [Orphanet] 27 / 7739
40
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
41
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
42
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
43
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: