MCID: THY071
MIFTS: 23

Thyroid Dyshormonogenesis 1

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 1

MalaCards integrated aliases for Thyroid Dyshormonogenesis 1:

Name: Thyroid Dyshormonogenesis 1 57 75 29 13 6 73
Tdh1 57 75
Congenital Hypothyroidism Due to Dyshormonogenesis Type 1 75
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 1 57
Iodine Accumulation, Transport, or Trapping Defect 57
Iodine Accumulation, Transport or Trapping Defect 75
Thyroid Hormonogenesis, Genetic Defect in, 1 57
Genetic Defect in Thyroid Hormonogenesis 1 75
Thyroid Dyshormonogenesis, Type 1 40
Chdh1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
hypothyroidism is less severe in individuals with high dietary iodine intake
preferably treated with iodine supplementation rather than thyroid hormone replacement


HPO:

32
thyroid dyshormonogenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 1

OMIM : 57 Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation. Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. (274400)

MalaCards based summary : Thyroid Dyshormonogenesis 1, also known as tdh1, is related to pendred syndrome, and has symptoms including constipation and dry skin. An important gene associated with Thyroid Dyshormonogenesis 1 is SLC5A5 (Solute Carrier Family 5 Member 5). Affiliated tissues include thyroid and skin, and related phenotypes are macroglossia and hypothyroidism

UniProtKB/Swiss-Prot : 75 Thyroid dyshormonogenesis 1: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.

Related Diseases for Thyroid Dyshormonogenesis 1

Diseases in the Thyroid Dyshormonogenesis 2a family:

Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6 Familial Thyroid Dyshormonogenesis

Diseases related to Thyroid Dyshormonogenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pendred syndrome 11.0

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 1

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism
thyroid iodine accumulation defect

Skin Nails Hair Skin:
dry skin

Laboratory Abnormalities:
low t4
low rai (radioactive iodine) uptake

Head And Neck Neck:
goiter (not always present)
thyroid nodules, hyperplastic and adenomatous

Neurologic Central Nervous System:
mental retardation (if untreated in infancy)

Abdomen Gastrointestinal:
constipation

Growth Other:
growth retardation

Head And Neck Mouth:
macroglossia (not always present)

Abdomen External Features:
umbilical hernia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
lethargy (when taken off of medication)


Clinical features from OMIM:

274400

Human phenotypes related to Thyroid Dyshormonogenesis 1:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 hypothyroidism 32 HP:0000821
3 goiter 32 HP:0000853
4 dry skin 32 HP:0000958
5 intellectual disability 32 HP:0001249
6 lethargy 32 HP:0001254
7 growth delay 32 HP:0001510
8 umbilical hernia 32 HP:0001537
9 constipation 32 HP:0002019

UMLS symptoms related to Thyroid Dyshormonogenesis 1:


constipation, dry skin

Drugs & Therapeutics for Thyroid Dyshormonogenesis 1

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 1

Genetic Tests for Thyroid Dyshormonogenesis 1

Genetic tests related to Thyroid Dyshormonogenesis 1:

# Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 1 29 SLC5A5

Anatomical Context for Thyroid Dyshormonogenesis 1

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 1:

41
Thyroid, Skin

Publications for Thyroid Dyshormonogenesis 1

Variations for Thyroid Dyshormonogenesis 1

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 1:

75
# Symbol AA change Variation ID SNP ID
1 SLC5A5 p.Gly93Arg VAR_010263 rs121909178
2 SLC5A5 p.Gln267Glu VAR_010265 rs121909176
3 SLC5A5 p.Thr354Pro VAR_010266 rs121909174
4 SLC5A5 p.Gly395Arg VAR_010267 rs121909180
5 SLC5A5 p.Gly543Glu VAR_010269 rs121909179

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 1:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC5A5 NM_000453.2(SLC5A5): c.1060A> C (p.Thr354Pro) single nucleotide variant Pathogenic rs121909174 GRCh37 Chromosome 19, 17992770: 17992770
2 SLC5A5 NM_000453.2(SLC5A5): c.1060A> C (p.Thr354Pro) single nucleotide variant Pathogenic rs121909174 GRCh38 Chromosome 19, 17881961: 17881961
3 SLC5A5 NM_000453.2(SLC5A5): c.816C> A (p.Cys272Ter) single nucleotide variant Pathogenic rs121909175 GRCh37 Chromosome 19, 17988649: 17988649
4 SLC5A5 NM_000453.2(SLC5A5): c.816C> A (p.Cys272Ter) single nucleotide variant Pathogenic rs121909175 GRCh38 Chromosome 19, 17877840: 17877840
5 SLC5A5 NM_000453.2(SLC5A5): c.799C> G (p.Gln267Glu) single nucleotide variant Pathogenic rs121909176 GRCh37 Chromosome 19, 17988632: 17988632
6 SLC5A5 NM_000453.2(SLC5A5): c.799C> G (p.Gln267Glu) single nucleotide variant Pathogenic rs121909176 GRCh38 Chromosome 19, 17877823: 17877823
7 SLC5A5 NM_000453.2(SLC5A5): c.1593C> G (p.Tyr531Ter) single nucleotide variant Pathogenic rs121909177 GRCh37 Chromosome 19, 17999206: 17999206
8 SLC5A5 NM_000453.2(SLC5A5): c.1593C> G (p.Tyr531Ter) single nucleotide variant Pathogenic rs121909177 GRCh38 Chromosome 19, 17888397: 17888397
9 SLC5A5 NM_000453.2(SLC5A5): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs121909178 GRCh37 Chromosome 19, 17983405: 17983405
10 SLC5A5 NM_000453.2(SLC5A5): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs121909178 GRCh38 Chromosome 19, 17872596: 17872596
11 SLC5A5 NM_000453.2(SLC5A5): c.1628G> A (p.Gly543Glu) single nucleotide variant Pathogenic rs121909179 GRCh37 Chromosome 19, 17999241: 17999241
12 SLC5A5 NM_000453.2(SLC5A5): c.1628G> A (p.Gly543Glu) single nucleotide variant Pathogenic rs121909179 GRCh38 Chromosome 19, 17888432: 17888432
13 SLC5A5 NM_000453.2(SLC5A5): c.1183G> A (p.Gly395Arg) single nucleotide variant Pathogenic rs121909180 GRCh37 Chromosome 19, 17992969: 17992969
14 SLC5A5 NM_000453.2(SLC5A5): c.1183G> A (p.Gly395Arg) single nucleotide variant Pathogenic rs121909180 GRCh38 Chromosome 19, 17882160: 17882160
15 SLC5A5 SLC5A5, EX3-7DEL deletion Pathogenic
16 SLC5A5 NM_000453.2(SLC5A5): c.1652-9G> A single nucleotide variant Likely benign rs4808708 GRCh38 Chromosome 19, 17890877: 17890877
17 SLC5A5 NM_000453.2(SLC5A5): c.1652-9G> A single nucleotide variant Likely benign rs4808708 GRCh37 Chromosome 19, 18001686: 18001686

Expression for Thyroid Dyshormonogenesis 1

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 1.

Pathways for Thyroid Dyshormonogenesis 1

GO Terms for Thyroid Dyshormonogenesis 1

Sources for Thyroid Dyshormonogenesis 1

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