Thyroid hemiagenesis

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
HYPOTHYROIDISM, ATHYREOTIC
THYROTROPIN RESISTANCE
THYROID AGENESIS
ATHYREOTIC HYPOTHYROIDISM
RESISTANCE TO THYROTROPIN
THYROID HYPOPLASIA
THYROID, ECTOPIC
THYROID DYSGENESIS
RTSH
CHNG2
Number of Symptoms 34
OrphanetNr: 95719
OMIM Id: 218700
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 25 of 100 000 [Orphanet]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital hypothyroidism due to developmental anomaly
 -Rare endocrine disease
 -Rare genetic disease
Congenital thyroid malformation without hypothyroidism
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
(HPO:0004491) Large posterior fontanelle 3 / 7739
2
(HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
3
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
4
(HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
5
(HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
6
(HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
7
(HPO:0001254) Lethargy 104 / 7739
8
(HPO:0008191) Thyroid agenesis 11 / 7739
9
(HPO:0000821) Hypothyroidism 141 / 7739
10
(HPO:0000853) Goiter 39 / 7739
11
(HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
12
(HPO:0100028) Ectopic thyroid 3 / 7739
13
(HPO:0005990) Thyroid hypoplasia Very frequent [Orphanet] 21 / 7739
14
(HPO:0002750) Delayed skeletal maturation 250 / 7739
15
(HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
16
(HPO:0011968) Feeding difficulties 240 / 7739
17
(HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
18
(HPO:0003270) Abdominal distention 46 / 7739
19
(HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
20
(HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
21
(HPO:0001510) Growth delay 295 / 7739
22
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
23
(HPO:0000958) Dry skin 152 / 7739
24
(HPO:0001662) Bradycardia 41 / 7739
25
(HPO:0002045) Hypothermia 27 / 7739
26
(HPO:0001615) Hoarse cry 5 / 7739
27
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
28
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
29
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
30
(HPO:0010547) Muscle flaccidity 466 / 7739
31
(OMIM) Nasal stuffiness 2 / 7739
32
(OMIM) Prolonged physiologic hyperbilirubinemia 1 / 7739
33
(OMIM) Puffy 1 / 7739
34
(OMIM) Noisy breathing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced ...
Clinical Description OMIM Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism, accounting for 85% of cases (Fisher, 1983). Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. ...
Molecular genetics OMIM In 3 infants with congenital hypothyroidism and thyroid hypoplasia, Macchia et al. (1998) identified heterozygosity for 3 different mutations in the PAX8 gene (167415.0002-167415.0004). The first infant had thyroid ectopy and reduced gland size with elevated levels of ...
Population genetics OMIM The incidence of newborn athyreotic hypothyroidism in whites and blacks is strikingly different: 1 in 5,526 and 1 in 32,377, respectively (Brown et al., 1981). The relative rarity in blacks has long been recognized (Childs and Gardner, 1954). ...