CHNG2
MCID: HYP760
MIFTS: 52

Hypothyroidism, Congenital, Nongoitrous, 2 (CHNG2)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 2

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 2:

Name: Hypothyroidism, Congenital, Nongoitrous, 2 58
Thyroid Dysgenesis 58 54 76 30 6 45 74
Thyroid Hypoplasia 58 54 60 74
Thyroid Agenesis 58 77 54 41
Thyroid Hemiagenesis 60 6 74
Chng2 58 12 76
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 58 13
Congenital Nongoitrous Hypothyroidism 2 12 15
Athyreotic Hypothyroidism 58 76
Thyrotropin Resistance 58 76
Thyroid, Ectopic 58 54
Rtsh 58 76
Congenital Hypothyroidism Due to Thyroid Dysgenesis or Hypoplasia 12
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis 58
Congenital Hypothyroidism Due to Thyroid Dysgenesis 76
Hypothyroidism, Congenital, Non-Goitrous, 2 76
Hypothyroidism, Congenital, Nongoitrous, 1 74
Hypothyroidism, Congenital, Nongoitrous, 3 74
Thyroid-Stimulating Hormone Resistance 76
Thyroid Hormone Resistance Syndrome 74
Hypothyroidism, Athyreotic 58
Resistance to Thyrotropin 58
Thyrotropin; Rtsh 58
Thyroid Ectopic 56

Characteristics:

Orphanet epidemiological data:

60
thyroid hypoplasia
Prevalence: 1-9/100000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
maternal autoantibodies
female to male ratio 2:1
rare in blacks


HPO:

33
hypothyroidism, congenital, nongoitrous, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous, 2

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 95720Disease definitionThyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.EpidemiologyPrevalence is estimated at around 1/28,000. Thyroid hypoplasia and athyreosis (see this term) combined account for one-third of cases of thyroid dysgenesis.Clinical descriptionClinical manifestations of thyroid hypoplasia are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment thyroid hypoplasia results in severe intellectual deficit and short stature.EtiologyFamilial cases of thyroid hypoplasia are caused by mutations in the FOXE1, NKX2-1, NKX2-5 or PAX8 genes (9q22, 14q13, 5q34 and 2q12-q14). Mutations that result in partial inactivation of the TSHR gene (14q31) can present with thyroid hypoplasia.Diagnostic methodsImaging studies are required to confirm the diagnosis.Genetic counselingThyroid hypoplasia is generally thought to be sporadic. However, recent evidence points to the possibility of a genetic component. Around 2% of cases have been shown to be familial.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 2, also known as thyroid dysgenesis, is related to hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate and hypothyroidism, congenital, nongoitrous, 1. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 2 is PAX8 (Paired Box 8), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include thyroid, tongue and skin, and related phenotypes are hypothyroidism and muscular hypotonia

Disease Ontology : 12 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.

OMIM : 58 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 in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism). (218700)

UniProtKB/Swiss-Prot : 76 Hypothyroidism, congenital, non-goitrous, 2: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.

Wikipedia : 77 Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or... more...

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 2

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 31.6 FOXE1 TG TPO
2 hypothyroidism, congenital, nongoitrous, 1 29.9 FOXE1 TSHR
3 hyperthyroidism 29.6 SERPINA7 TG TPO TSHR
4 myxedema 29.4 TG TPO TSHR
5 multinodular goiter 29.3 NKX2-1 PAX8 SLC26A4 TG TPO TSHR
6 endemic goiter 29.3 SERPINA7 TG TPO TSHR
7 graves disease 1 29.3 SERPINA7 TG TPO TSHR
8 subacute thyroiditis 29.3 SERPINA7 TG TPO TSHR
9 thyroiditis 29.2 SERPINA7 TG TPO TSHR
10 nodular goiter 29.0 LGALS3 TG TPO TSHR
11 pendred syndrome 29.0 PAX8 SLC26A4 TG TPO
12 graves' disease 29.0 SERPINA7 TG TPO TSHR
13 hypothyroidism 28.8 FOXE1 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
14 congenital hypothyroidism 28.7 FOXE1 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
15 hashimoto thyroiditis 28.5 LGALS3 SLC26A4 TG TPO TSHR
16 thyroid cancer 28.0 FOXE1 LGALS3 NKX2-1 PAX8 SLC26A4 TG
17 papillary carcinoma 27.9 LGALS3 NKX2-1 PAX8 TG TPO TSHR
18 goiter 27.2 LGALS3 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
19 resistance to thyrotropin-releasing hormone syndrome 12.4
20 hyperthyroidism, nonautoimmune 11.6
21 hypothyroidism, congenital, nongoitrous, 3 11.5
22 bamforth syndrome 11.3
23 adenoma 10.3
24 neonatal thyrotoxicosis 10.2 PAX8 TSHR
25 parathyroid adenoma 10.2
26 acute thyroiditis 10.2 FOXE1 TG
27 water-clear cell adenoma 10.2 PAX8 TG
28 benign struma ovarii 10.2 TG TSHR
29 postsurgical hypothyroidism 10.1 TG TSHR
30 hashimoto encephalopathy 10.1 TPO TSHR
31 rete testis neoplasm 10.1 NKX2-1 PAX8
32 ovarian germ cell teratoma 10.1 NKX2-1 TG
33 ovarian germ cell cancer 10.1 NKX2-1 TG
34 thymus cancer 10.0 NKX2-1 PAX8
35 subacute lymphocytic thyroiditis 10.0 TG TPO
36 familial thyroid dyshormonogenesis 10.0 TG TPO
37 exophthalmos 10.0 TG TSHR
38 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0 TG TPO
39 thyroid hormone resistance, generalized, autosomal dominant 10.0 SERPINA7 TG
40 thyroid cancer, nonmedullary, 1 10.0
41 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.0
42 muscular dystrophy, congenital, 1b 10.0
43 dilated cardiomyopathy 10.0
44 hypogonadism 10.0
45 adenocarcinoma 10.0
46 papillary adenocarcinoma 10.0
47 hypogonadotropism 10.0
48 fourth branchial cleft anomaly 10.0
49 right aortic arch 10.0
50 thyroid crisis 10.0 SERPINA7 TG

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 2:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 2

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 2

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 2:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
3 constipation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002019
4 macroglossia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000158
5 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000280
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001263
7 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
8 fatigue 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012378
9 growth delay 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001510
10 jaundice 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000952
11 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000239
12 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003270
13 thyroid hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005990
14 hypersomnia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100786
15 thyroid agenesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008191
16 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
17 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
18 hypothermia 33 HP:0002045
19 delayed skeletal maturation 33 HP:0002750
20 feeding difficulties in infancy 33 HP:0008872
21 hoarse cry 33 HP:0001615
22 dry skin 33 HP:0000958
23 goiter 33 HP:0000853
24 abnormality of the face 60 Very frequent (99-80%),Very frequent (99-80%)
25 lethargy 33 HP:0001254
26 hyperbilirubinemia 33 HP:0002904
27 generalized hypotonia 33 HP:0001290
28 stridor 33 HP:0010307
29 congenital hypothyroidism 33 HP:0000851
30 ectopic thyroid 33 HP:0100028
31 bradycardia 33 HP:0001662
32 increased thyroid-stimulating hormone level 33 HP:0002925
33 large posterior fontanelle 33 HP:0004491

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
constipation

Head And Neck Mouth:
macroglossia

Abdomen External Features:
umbilical hernia
abdominal distention

Endocrine Features:
goiter
thyroid agenesis
ectopic thyroid
hypoplastic thyroid

Growth Other:
poor feeding
delayed growth

Head And Neck Head:
large posterior fontanel

Abdomen Biliary Tract:
prolonged physiologic hyperbilirubinemia

Neurologic Central Nervous System:
hypothermia
lethargy
hypotonia

Skeletal:
delayed skeletal maturation

Voice:
hoarse cry

Cardiovascular Heart:
bradycardia

Skin Nails Hair Skin:
dry
puffy

Respiratory Nasopharynx:
noisy breathing
nasal stuffiness

Laboratory Abnormalities:
low t4
high tsh

Clinical features from OMIM:

218700

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 FOXE1 NKX2-1 PAX8 SLC26A4 TG TPO
2 growth/size/body region MP:0005378 9.87 FOXE1 LGALS3 NKX2-1 PAX8 TG TPO
3 digestive/alimentary MP:0005381 9.8 FOXE1 LGALS3 NKX2-1 SLC26A4 TG
4 homeostasis/metabolism MP:0005376 9.76 FOXE1 LGALS3 NKX2-1 PAX8 SLC26A4 TG
5 hearing/vestibular/ear MP:0005377 9.56 PAX8 SLC26A4 TPO TSHR
6 limbs/digits/tail MP:0005371 9.26 PAX8 TG TPO TSHR
7 skeleton MP:0005390 9.17 LGALS3 NKX2-1 PAX8 SLC26A4 TG TPO

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Completed NCT01916018 Not Applicable

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 2

Cochrane evidence based reviews: thyroid dysgenesis

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 2

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 2:

# Genetic test Affiliating Genes
1 Thyroid Dysgenesis 30 PAX8

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 2

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 2:

42
Thyroid, Tongue, Skin, T Cells, Testes, Testis, Thymus

Publications for Hypothyroidism, Congenital, Nongoitrous, 2

Articles related to Hypothyroidism, Congenital, Nongoitrous, 2:

(show top 50) (show all 88)
# Title Authors Year
1
High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis. ( 29159607 )
2018
2
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis. ( 30304112 )
2018
3
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology. ( 30446499 )
2018
4
Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. ( 30074255 )
2018
5
Mutations in BOREALIN cause thyroid dysgenesis. ( 28025328 )
2017
6
Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence? ( 29479488 )
2017
7
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. ( 26757609 )
2016
8
Thyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis. ( 26684308 )
2016
9
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant. ( 26495924 )
2016
10
A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis. ( 26617871 )
2015
11
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis. ( 26421664 )
2015
12
Advanced maternal age in Indian children with thyroid dysgenesis. ( 26019402 )
2015
13
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis. ( 25353184 )
2015
14
Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis. ( 25277881 )
2015
15
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. ( 25153580 )
2015
16
DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome. ( 25490145 )
2015
17
Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis. ( 25538886 )
2014
18
An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis. ( 24859513 )
2014
19
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ( 25214233 )
2014
20
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. ( 24690939 )
2014
21
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. ( 24248179 )
2014
22
The molecular causes of thyroid dysgenesis: a systematic review. ( 23698639 )
2013
23
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. ( 23308388 )
2013
24
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. ( 23285148 )
2012
25
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. ( 22876533 )
2012
26
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis. ( 22666732 )
2012
27
Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. ( 22004907 )
2012
28
Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism. ( 22876532 )
2012
29
A unique case of thyroid dysgenesis in a neonate. ( 21637059 )
2011
30
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. ( 21450989 )
2011
31
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. ( 21060249 )
2011
32
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. ( 21054242 )
2011
33
Epidemiology of thyroid dysgenesis: the familial component. ( 20215768 )
2010
34
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. ( 20094846 )
2010
35
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ( 20427504 )
2010
36
Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. ( 20857061 )
2010
37
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. ( 19542741 )
2009
38
Two puzzling cases of thyroid dysgenesis. ( 19153515 )
2009
39
Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis. ( 19844119 )
2009
40
Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound. ( 18953170 )
2008
41
Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis. ( 18410549 )
2008
42
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. ( 17717707 )
2007
43
Possible non-Mendelian mechanisms of thyroid dysgenesis. ( 17684388 )
2007
44
Familial forms of thyroid dysgenesis. ( 17684387 )
2007
45
FOXE1 polymorphisms: a new piece in the puzzle of thyroid dysgenesis. ( 17318014 )
2007
46
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec. ( 17504897 )
2007
47
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. ( 16418214 )
2006
48
Thyroid dysgenesis: multigenic or epigenetic ... or both? ( 16291637 )
2005
49
Resistance to thyroid hormone in a patient with thyroid dysgenesis. ( 16053391 )
2005
50
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. ( 15845640 )
2005

Variations for Hypothyroidism, Congenital, Nongoitrous, 2

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 2:

76
# Symbol AA change Variation ID SNP ID
1 PAX8 p.Arg31His VAR_012769 rs104893657
2 PAX8 p.Gln40Pro VAR_012770 rs104893656
3 PAX8 p.Cys57Tyr VAR_012771 rs104893659
4 PAX8 p.Leu62Arg VAR_012772 rs104893658

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 2:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 LINC01121 GRCh37/hg19 2p21(chr2: 45454554-45457111)x3 copy number gain Likely pathogenic GRCh37 Chromosome 2, 45454554: 45457111
2 LINC01121 GRCh37/hg19 2p21(chr2: 45453858-45455897)x3 copy number gain Likely pathogenic GRCh37 Chromosome 2, 45453858: 45455897
3 PSMD3 GRCh37/hg19 17q21.1(chr17: 38146929-38153473)x1 copy number loss Likely pathogenic GRCh37 Chromosome 17, 38146929: 38153473
4 VPS13C GRCh37/hg19 15q22.2(chr15: 62155282-62332980)x1 copy number loss Likely pathogenic GRCh37 Chromosome 15, 62155282: 62332980
5 VPS13C GRCh37/hg19 15q22.2(chr15: 62128861-62340126)x1 copy number loss Likely pathogenic GRCh37 Chromosome 15, 62128861: 62340126
6 ARID4A; PSMA3; TIMM9; TOMM20L GRCh37/hg19 14q23.1(chr14: 58737402-58891576)x1 copy number loss Likely pathogenic GRCh37 Chromosome 14, 58737402: 58891576
7 ARID4A; PSMA3; TIMM9; TOMM20L GRCh37/hg19 14q23.1(chr14: 58737402-58884615)x1 copy number loss Likely pathogenic GRCh37 Chromosome 14, 58737402: 58884615
8 CYP2R1; PDE3B; PSMA1 GRCh37/hg19 11p15.2(chr11: 14657389-14918308)x1 copy number loss Likely pathogenic GRCh37 Chromosome 11, 14657389: 14918308
9 COPB1; CYP2R1; PDE3B; PSMA1 GRCh37/hg19 11p15.2(chr11: 14504463-14909461)x1 copy number loss Likely pathogenic GRCh37 Chromosome 11, 14504463: 14909461
10 PAX8 NM_013953.3(PAX8): c.119A> C (p.Gln40Pro) single nucleotide variant Pathogenic rs104893656 GRCh38 Chromosome 2, 113246826: 113246826
11 PAX8 NM_013953.3(PAX8): c.119A> C (p.Gln40Pro) single nucleotide variant Pathogenic rs104893656 GRCh37 Chromosome 2, 114004403: 114004403
12 PAX8 NM_013953.3(PAX8): c.160A> G (p.Ser54Gly) single nucleotide variant Pathogenic rs104893660 GRCh38 Chromosome 2, 113246785: 113246785
13 PAX8 NM_013953.3(PAX8): c.160A> G (p.Ser54Gly) single nucleotide variant Pathogenic rs104893660 GRCh37 Chromosome 2, 114004362: 114004362
14 PAX8 NM_013953.3(PAX8): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs104893659 GRCh38 Chromosome 2, 113246775: 113246775
15 PAX8 NM_013953.3(PAX8): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs104893659 GRCh37 Chromosome 2, 114004352: 114004352
16 PAX8 NM_013953.3(PAX8): c.185T> G (p.Leu62Arg) single nucleotide variant Pathogenic rs104893658 GRCh38 Chromosome 2, 113246760: 113246760
17 PAX8 NM_013953.3(PAX8): c.185T> G (p.Leu62Arg) single nucleotide variant Pathogenic rs104893658 GRCh37 Chromosome 2, 114004337: 114004337
18 PAX8 NM_013953.3(PAX8): c.92G> A (p.Arg31His) single nucleotide variant Pathogenic rs104893657 GRCh38 Chromosome 2, 113246853: 113246853
19 PAX8 NM_013953.3(PAX8): c.92G> A (p.Arg31His) single nucleotide variant Pathogenic rs104893657 GRCh37 Chromosome 2, 114004430: 114004430
20 PAX8 NM_013953.3(PAX8): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs104893655 GRCh38 Chromosome 2, 113244494: 113244494
21 PAX8 NM_013953.3(PAX8): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs104893655 GRCh37 Chromosome 2, 114002071: 114002071
22 PAX8 NM_013953.3(PAX8): c.143C> T (p.Ser48Phe) single nucleotide variant Pathogenic rs121917719 GRCh38 Chromosome 2, 113246802: 113246802
23 PAX8 NM_013953.3(PAX8): c.143C> T (p.Ser48Phe) single nucleotide variant Pathogenic rs121917719 GRCh37 Chromosome 2, 114004379: 114004379
24 PAX8 NM_003466.3(PAX8): c.160A> T (p.Ser54Cys) single nucleotide variant Likely pathogenic rs104893660 GRCh38 Chromosome 2, 113246785: 113246785
25 PAX8 NM_003466.3(PAX8): c.160A> T (p.Ser54Cys) single nucleotide variant Likely pathogenic rs104893660 GRCh37 Chromosome 2, 114004362: 114004362

Expression for Hypothyroidism, Congenital, Nongoitrous, 2

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 2.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 2

Pathways related to Hypothyroidism, Congenital, Nongoitrous, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 PAX8 SERPINA7 SLC26A4 TG TPO TSHR
2 10.99 PAX8 TSHR
3 9.58 TG TPO TSHR

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 2

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone biosynthetic process GO:0042446 9.32 TG TPO
2 thyroid hormone generation GO:0006590 9.26 FOXE1 TPO
3 iodide transport GO:0015705 9.16 SLC26A4 TG
4 thyroid-stimulating hormone signaling pathway GO:0038194 8.96 TSHR PAX8
5 thyroid gland development GO:0030878 8.92 PAX8 FOXE1 NKX2-1 TG

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Hypothyroidism, Congenital, Nongoitrous, 2

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