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
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ICD-10: |
E03.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 25 of 100 000 [Orphanet] |
Inheritance: |
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Age of onset: |
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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:
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(HPO:0004491) | Large posterior fontanelle | 3 / 7739 | ||||
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(HPO:0000158) | Macroglossia | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0008191) | Thyroid agenesis | 11 / 7739 | ||||
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(HPO:0000821) | Hypothyroidism | 141 / 7739 | ||||
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(HPO:0000853) | Goiter | 39 / 7739 | ||||
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(HPO:0002925) | Thyroid-stimulating hormone excess | 12 / 7739 | ||||
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(HPO:0100028) | Ectopic thyroid | 3 / 7739 | ||||
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(HPO:0005990) | Thyroid hypoplasia | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0003270) | Abdominal distention | 46 / 7739 | ||||
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(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0001662) | Bradycardia | 41 / 7739 | ||||
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(HPO:0002045) | Hypothermia | 27 / 7739 | ||||
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(HPO:0001615) | Hoarse cry | 5 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(OMIM) | Nasal stuffiness | 2 / 7739 | ||||
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(OMIM) | Prolonged physiologic hyperbilirubinemia | 1 / 7739 | ||||
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(OMIM) | Puffy | 1 / 7739 | ||||
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(OMIM) | Noisy breathing | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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). ... |