PedAM

Pediatric Disease Annotations & Medicines


	congenital hypothyroidism

Disease ID	73
Disease	congenital hypothyroidism
Definition	condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism; it is the congenital form of thyroid deficiency, while myxedema is the acquired form.
Synonym	cht - congenital hypothyroidism congen hypothyroidism congenital goiter congenital goitre congenital hypothyroidism (disorder) congenital hypothyroidism [disease/finding] congenital hypothyroidism nos congenital hypothyroidism nos (disorder) congenital hypothyroidism not due to iodine deficiency congenital hypothyroidism: [cretinism] or [nos] congenital hypothyroidism: [cretinism] or [nos] (disorder) congenital hypothyroidsm congenital thyroid insufficiency cretinism cretinism (disorder) cretinism (disorder) [ambiguous] cretinism, infantile cretinism, nos goitrous cretinism hypothyroidism congenital hypothyroidism, congenital hypothyroidism, infantile infantile hypothyroidism
Orphanet	ORPHANET:442
DOID	DOID:0050328
UMLS	C0010308
MeSH	D003409
SNOMED-CT	SNOMEDCT_US_2016_09_01:190268003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:26) C0018021 \| goiter \| 6 C0025362 \| mental retardation \| 3 C0549473 \| thyroid carcinoma \| 3 C0007115 \| thyroid ca \| 3 C0020555 \| hypertrichosis \| 2 C0020676 \| hypothyroidism \| 1 C0018799 \| cardiac disease \| 1 C0266463 \| lissencephaly \| 1 C1263846 \| attention deficit hyperactivity disorder \| 1 C1258215 \| ileus \| 1 C0175702 \| williams syndrome \| 1 C0019284 \| diaphragmatic hernia \| 1 C0342208 \| multinodular goiter \| 1 C0040137 \| thyroid nodules \| 1 C1145670 \| respiratory failure \| 1 C0040137 \| thyroid nodule \| 1 C0162299 \| thyroid cyst \| 1 C0008925 \| cleft palate \| 1 C0028754 \| obesity \| 1 C0019569 \| hirschsprung's disease \| 1 C0007570 \| coeliac disease \| 1 C0014850 \| esophageal atresia \| 1 C0018799 \| heart disease \| 1 C0018021 \| goitre \| 1 C0018023 \| nodular goiter \| 1 C0152021 \| congenital heart disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) NKX2-5 \| 1482 \| UniProtKB-KW SLC5A5 \| 6528 \| UniProtKB-KW;GHR TSHR \| 7253 \| CTD_human;UniProtKB-KW;GHR TG \| 7038 \| UniProtKB-KW;GHR DUOX2 \| 50506 \| CTD_human;UniProtKB-KW;GHR TSHB \| 7252 \| GHR PAX8 \| 7849 \| UniProtKB-KW;GHR GLIS3 \| 169792 \| UniProtKB-KW NKX2-1 \| 7080 \| UniProtKB-KW THRA \| 7067 \| UniProtKB-KW FOXE1 \| 2304 \| UniProtKB-KW IGSF1 \| 3547 \| CTD_human;UniProtKB-KW IYD \| 389434 \| UniProtKB-KW DUOXA2 \| 405753 \| UniProtKB-KW TPO \| 7173 \| CTD_human;UniProtKB-KW;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 7253 \| TSHR \| infer 7270 \| TTF1 \| infer 7849 \| PAX8 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:128) 2767 \| GNA11 \| DISEASES 7051 \| TGM1 \| DISEASES 25776 \| CBY1 \| DISEASES 23551 \| RASD2 \| DISEASES 55192 \| DNAJC17 \| DISEASES 7038 \| TG \| DISEASES 1666 \| DECR1 \| DISEASES 8857 \| FCGBP \| DISEASES 6528 \| SLC5A5 \| DISEASES 3199 \| HOXA2 \| DISEASES 51655 \| RASD1 \| DISEASES 2483 \| FRG1 \| DISEASES 389434 \| IYD \| DISEASES 57616 \| TSHZ3 \| DISEASES 22879 \| MON1B \| DISEASES 3630 \| INS \| DISEASES 55422 \| ZNF331 \| DISEASES 7252 \| TSHB \| DISEASES 377 \| ARF3 \| DISEASES 10961 \| ERP29 \| DISEASES 4591 \| TRIM37 \| DISEASES 84662 \| GLIS2 \| DISEASES 27443 \| CECR2 \| DISEASES 2769 \| GNA15 \| DISEASES 10133 \| OPTN \| DISEASES 2033 \| EP300 \| DISEASES 51430 \| SUCO \| DISEASES 89884 \| LHX4 \| DISEASES 60482 \| SLC5A7 \| DISEASES 3004 \| GZMM \| DISEASES 7067 \| THRA \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 8626 \| TP63 \| DISEASES 6507 \| SLC1A3 \| DISEASES 25824 \| PRDX5 \| DISEASES 5172 \| SLC26A4 \| DISEASES 90527 \| DUOXA1 \| DISEASES 2044 \| EPHA5 \| DISEASES 57502 \| NLGN4X \| DISEASES 6567 \| SLC16A2 \| DISEASES 6506 \| SLC1A2 \| DISEASES 5741 \| PTH \| DISEASES 3087 \| HHEX \| DISEASES 56934 \| CA10 \| DISEASES 9601 \| PDIA4 \| DISEASES 29028 \| ATAD2 \| DISEASES 539 \| ATP5O \| DISEASES 51072 \| MEMO1 \| DISEASES 4760 \| NEUROD1 \| DISEASES 8820 \| HESX1 \| DISEASES 3313 \| HSPA9 \| DISEASES 7253 \| TSHR \| DISEASES 5617 \| PRL \| DISEASES 3175 \| ONECUT1 \| DISEASES 3479 \| IGF1 \| DISEASES 43 \| ACHE \| DISEASES 7200 \| TRH \| DISEASES 686 \| BTD \| DISEASES 4761 \| NEUROD2 \| DISEASES 148979 \| GLIS1 \| DISEASES 7201 \| TRHR \| DISEASES 5626 \| PROP1 \| DISEASES 5198 \| PFAS \| DISEASES 55143 \| CDCA8 \| DISEASES 6440 \| SFTPC \| DISEASES 64755 \| C16orf58 \| DISEASES 8824 \| CES2 \| DISEASES 53905 \| DUOX1 \| DISEASES 7173 \| TPO \| DISEASES 5912 \| RAP2B \| DISEASES 405753 \| DUOXA2 \| DISEASES 2193 \| FARSA \| DISEASES 2274 \| FHL2 \| DISEASES 1482 \| NKX2-5 \| DISEASES 3214 \| HOXB4 \| DISEASES 6906 \| SERPINA7 \| DISEASES 796 \| CALCA \| DISEASES 6899 \| TBX1 \| DISEASES 5449 \| POU1F1 \| DISEASES 10617 \| STAMBP \| DISEASES 309 \| ANXA6 \| DISEASES 7080 \| NKX2-1 \| DISEASES 7068 \| THRB \| DISEASES 50485 \| SMARCAL1 \| DISEASES 54413 \| NLGN3 \| DISEASES 10092 \| ARPC5 \| DISEASES 11169 \| WDHD1 \| DISEASES 140803 \| TRPM6 \| DISEASES 6935 \| ZEB1 \| DISEASES 284486 \| THEM5 \| DISEASES 117247 \| SLC16A10 \| DISEASES 22854 \| NTNG1 \| DISEASES 6658 \| SOX3 \| DISEASES 3547 \| IGSF1 \| DISEASES 2778 \| GNAS \| DISEASES 377841 \| ENTPD8 \| DISEASES 8022 \| LHX3 \| DISEASES 80712 \| ESX1 \| DISEASES 5456 \| POU3F4 \| DISEASES 1104 \| RCC1 \| DISEASES 2304 \| FOXE1 \| DISEASES 3105 \| HLA-A \| DISEASES 160897 \| GPR180 \| DISEASES 26586 \| CKAP2 \| DISEASES 51334 \| PRR16 \| DISEASES 3486 \| IGFBP3 \| DISEASES 53919 \| SLCO1C1 \| DISEASES 169792 \| GLIS3 \| DISEASES 50506 \| DUOX2 \| DISEASES 51347 \| TAOK3 \| DISEASES 84628 \| NTNG2 \| DISEASES 6439 \| SFTPB \| DISEASES 174 \| AFP \| DISEASES 4689 \| NCF4 \| DISEASES 10587 \| TXNRD2 \| DISEASES 25983 \| NGDN \| DISEASES 7849 \| PAX8 \| DISEASES 10725 \| NFAT5 \| DISEASES 51562 \| MBIP \| DISEASES 26137 \| ZBTB20 \| DISEASES 256987 \| SERINC5 \| DISEASES 51428 \| DDX41 \| DISEASES 253970 \| SFTA3 \| DISEASES 9774 \| BCLAF1 \| DISEASES 160728 \| SLC5A8 \| DISEASES 5053 \| PAH \| DISEASES 1734 \| DIO2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	73
Disease	congenital hypothyroidism
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:50) HP:0011675 \| Arrhythmia HP:0000492 \| Abnormality of the eyelid HP:0000158 \| Macroglossia HP:0000739 \| Anxiety HP:0000787 \| Nephrolithiasis HP:0004491 \| Large posterior fontanelle HP:0006579 \| Prolonged neonatal jaundice HP:0002019 \| Constipation HP:0000135 \| Hypogonadism HP:0001315 \| Reduced tendon reflexes HP:0010864 \| Intellectual disability, severe HP:0001263 \| Global developmental delay HP:0000830 \| Anterior hypopituitarism HP:0005930 \| Abnormality of epiphysis morphology HP:0004322 \| Short stature HP:0000504 \| Abnormality of vision HP:0001595 \| Abnormality of the hair HP:0000820 \| Abnormality of the thyroid gland HP:0000822 \| Hypertension HP:0001071 \| Angiokeratoma corporis diffusum HP:0001697 \| Abnormality of the pericardium HP:0000246 \| Sinusitis HP:0000478 \| Abnormality of the eye HP:0000280 \| Coarse facial features HP:0000365 \| Hearing impairment HP:0000239 \| Large fontanelles HP:0001252 \| Muscular hypotonia HP:0000202 \| Oral cleft HP:0005214 \| Intestinal obstruction HP:0003270 \| Abdominal distention HP:0002615 \| Hypotension HP:0000080 \| Abnormality of reproductive system physiology HP:0000716 \| Depression HP:0001615 \| Hoarse cry HP:0002045 \| Hypothermia HP:0100540 \| Palpebral edema HP:0000821 \| Hypothyroidism HP:0000518 \| Cataract HP:0000853 \| Goiter HP:0000457 \| Depressed nasal ridge HP:0002575 \| Tracheoesophageal fistula HP:0000458 \| Anosmia HP:0002360 \| Sleep disturbance HP:0008872 \| Feeding difficulties in infancy HP:0000271 \| Abnormality of the face HP:0001537 \| Umbilical hernia HP:0001249 \| Intellectual disability HP:0000648 \| Optic atrophy HP:0008188 \| Thyroid dysgenesis HP:0003401 \| Paresthesia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0000853 \| Goitre \| 7 HP:0005990 \| Thyroid hypoplasia \| 6 HP:0001249 \| Mental retardation \| 4 HP:0030731 \| Carcinoma \| 3 HP:0002890 \| Thyroid carcinoma \| 3 HP:0000078 \| Genital abnormalities \| 2 HP:0008188 \| Thyroid dysplasia \| 2 HP:0000998 \| Hypertrichosis \| 2 HP:0010864 \| Early and severe mental retardation \| 1 HP:0001339 \| Lissencephaly \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0001513 \| Obesity \| 1 HP:0003712 \| Hypertrophic muscles \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0011780 \| Thyroid hemiagenesis \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0002072 \| Chorea \| 1 HP:0008245 \| Thyroid stimulating hormone deficiency \| 1 HP:0000119 \| Genitourinary abnormality \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0002925 \| Increased serum thyroid-stimulating hormone \| 1 HP:0007018 \| Attention deficits \| 1 HP:0008249 \| Large thyroid \| 1 HP:0001250 \| Seizures \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0000952 \| Yellow skin \| 1 HP:0005994 \| Nodular goiter \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001662 \| Bradycardia \| 1 HP:0002032 \| Esophageal atresia \| 1 HP:0100029 \| Lingual thyroid \| 1 HP:0007479 \| Nonbullous congenital ichthyosis \| 1 HP:0005987 \| Multinodular goiter \| 1

Disease ID	73
Disease	congenital hypothyroidism
Manually Symptom	UMLS \| Name(Total Manually Symptoms:21) C2681938 \| beckwith-wiedemann syndrome C2203646 \| jaundice C1839141 \| thyroxine-binding globulin deficiency C1563716 \| thyroid dysgenesis C1384666 \| hearing impairment C1253937 \| pericardial effusion C0877169 \| neonatal hyponatremia C0859974 \| neonatal intestinal obstruction C0796095 \| c syndrome C0599750 \| hormone deficiency C0581883 \| deafness C0342199 \| iodine deficiency C0342194 \| iodotyrosyl coupling defect C0040128 \| thyroid disorders C0025362 \| mental retardation C0020625 \| hyponatremia C0020565 \| macromastia C0020514 \| hyperprolactinaemia C0007570 \| celiac disease C0004245 \| atrioventricular heart block C0001430 \| adenoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0025362 \| mental retardation \| 3 C1563716 \| thyroid dysgenesis \| 2 C0599750 \| hormone deficiency \| 1 C1384666 \| hearing impairment \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:19)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893656	11502839	7849	PAX8	umls:C0010308	BeFree	A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.	0.013430135	2001	PAX8;PAX8-AS1	2	113246826	T	G
rs119472026	24127536	50506	DUOX2	umls:C0010308	BeFree	A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism.	0.131420422	2013	DUOX2	15	45108887	G	A
rs121908866	12629076	7253	TSHR	umls:C0010308	BeFree	In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene.	0.138054579	2003	TSHR;LOC101928462	14	81143695	G	A
rs121917893	20615874	7038	TG	umls:C0010308	BeFree	By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates.	0.020920887	2010	NLGN3	X	71167508	C	T
rs121917893	20615874	54413	NLGN3	umls:C0010308	BeFree	By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates.	0.000271442	2010	NLGN3	X	71167508	C	T
rs189261858	25928756	7253	TSHR	umls:C0010308	BeFree	He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism.	0.138054579	2014	TSHR;LOC101928462	14	81143407	G	A
rs189261858	21714469	7253	TSHR	umls:C0010308	BeFree	The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.	0.138054579	2010	TSHR;LOC101928462	14	81143407	G	A
rs1991517	21714469	7253	TSHR	umls:C0010308	BeFree	The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.	0.138054579	2010	TSHR;LOC101928462	14	81144239	G	C
rs1991517	21714466	7253	TSHR	umls:C0010308	BeFree	High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism.	0.138054579	2010	TSHR;LOC101928462	14	81144239	G	C
rs2076738	10199792	7038	TG	umls:C0010308	BeFree	Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.	0.020920887	1999	TG	8	132906843	T	C
rs2076738	15171721	7038	TG	umls:C0010308	BeFree	We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation.	0.020920887	2004	TG	8	132906843	T	C
rs2076738	9790265	7038	TG	umls:C0010308	BeFree	Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.	0.020920887	1998	TG	8	132906843	T	C
rs2076738	10199792	7038	TG	umls:C0349476	BeFree	Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.	0.008143256	1999	TG	8	132906843	T	C
rs2076738	9790265	7038	TG	umls:C0349476	BeFree	Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.	0.008143256	1998	TG	8	132906843	T	C
rs2076739	10199792	7038	TG	umls:C0349476	BeFree	Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.	0.008143256	1999	TG	8	132971804	T	A
rs2076739	10199792	7038	TG	umls:C0010308	BeFree	Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.	0.020920887	1999	TG	8	132971804	T	A
rs2076739	15171721	7038	TG	umls:C0010308	BeFree	We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation.	0.020920887	2004	TG	8	132971804	T	A
rs4774518	21367925	405753	DUOXA2	umls:C0010308	BeFree	Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH.	0.001357209	2011	DUOXA1;DUOXA2	15	45117274	C	G,T
rs4774518	21367925	50506	DUOX2	umls:C0010308	BeFree	Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH.	0.131420422	2011	DUOXA1;DUOXA2	15	45117274	C	G,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000157	Abnormality of the tongue	MP:0000731	increased collagen deposition in the muscles;HP:0001608	Abnormality of the voice

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100543	Cognitive impairment	MP:0011250	abdominal situs ambiguus;HP:0000246	Sinusitis

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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