MCID: HYP760
MIFTS: 51

Hypothyroidism, Congenital, Nongoitrous, 2

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 2

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

Name: Hypothyroidism, Congenital, Nongoitrous, 2 57
Thyroid Dysgenesis 57 53 75 29 6 44 73
Thyroid Hypoplasia 57 53 59 29 73
Thyroid Agenesis 57 76 53 40
Thyroid Hemiagenesis 59 6 73
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 57 13
Athyreotic Hypothyroidism 57 75
Thyrotropin Resistance 57 75
Thyroid, Ectopic 57 53
Chng2 57 75
Rtsh 57 75
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis 57
Congenital Hypothyroidism Due to Thyroid Dysgenesis 75
Hypothyroidism, Congenital, Non-Goitrous, 2 75
Hypothyroidism, Congenital, Nongoitrous, 1 73
Hypothyroidism, Congenital, Nongoitrous, 3 73
Thyroid-Stimulating Hormone Resistance 75
Thyroid Hormone Resistance Syndrome 73
Hypothyroidism, Athyreotic 57
Resistance to Thyrotropin 57
Thyrotropin; Rtsh 57
Thyroid Ectopic 55

Characteristics:

Orphanet epidemiological data:

59
thyroid hypoplasia
Prevalence: 1-9/100000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hypothyroidism, congenital, nongoitrous, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous, 2

NIH Rare Diseases : 53 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 thyroiditis. 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

OMIM : 57 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 : 75 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 : 76 Thyroid dysgenesis or thyroid agenesis is a cause of congenital hypothyroidism where the thyroid is... 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 62)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 31.2 FOXE1 TG
2 thyroiditis 29.6 SERPINA7 TG TSHR
3 neonatal hypothyroidism 29.6 PAX8 TG TSHR
4 graves' disease 28.7 SERPINA7 TG TSHR
5 congenital hypothyroidism 27.8 FOXE1 NKX2-1 PAX8 TG TSHR
6 hypothyroidism 26.3 FOXE1 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
7 resistance to thyrotropin-releasing hormone syndrome 12.2
8 hypothyroidism, congenital, nongoitrous, 3 11.3
9 hypothyroidism, congenital, nongoitrous, 1 11.2
10 bamforth syndrome 11.1
11 congenital nongoitrous hypothryoidism 2 10.9
12 neonatal thyrotoxicosis 10.4 PAX8 TSHR
13 water-clear cell adenoma 10.2 PAX8 TG
14 benign struma ovarii 10.2 TG TSHR
15 hyperthyroxinemia 10.1 SERPINA7 TSHR
16 rete testis neoplasm 10.1 NKX2-1 PAX8
17 myxedema 10.0 TG TSHR
18 ovarian germ cell teratoma 10.0 NKX2-1 TG
19 acute thyroiditis 10.0 FOXE1 TG
20 ovarian germ cell cancer 10.0 NKX2-1 TG
21 malignant teratoma 9.9 NKX2-1 TG
22 exophthalmos 9.9 TG TSHR
23 thyroid hormone resistance, generalized, autosomal dominant 9.9 SERPINA7 TG
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8 TG TSHR
25 cleft palate, isolated 9.8
26 hypersensitivity reaction disease 9.8 TG TSHR
27 ovarian cystic teratoma 9.8 NKX2-1 TG
28 pendred syndrome 9.7 PAX8 SLC26A4 TG
29 mucinous bronchioloalveolar adenocarcinoma 9.7 LGALS3 NKX2-1
30 immune system disease 9.6 TG TSHR
31 struma ovarii 9.6 NKX2-1 TG TSHR
32 endemic goiter 9.6 SERPINA7 TG TSHR
33 graves disease 1 9.6 SERPINA7 TG TSHR
34 anaplastic thyroid cancer 9.6 NKX2-1 PAX8 TG
35 choanal atresia, posterior 9.6
36 primary hyperparathyroidism 9.6
37 cornelia de lange syndrome 9.6
38 hyperparathyroidism 9.6
39 cervicitis 9.6
40 nontoxic goiter 9.6 SERPINA7 TG TSHR
41 toxic diffuse goiter 9.6 SERPINA7 TG TSHR
42 subacute thyroiditis 9.6 SERPINA7 TG TSHR
43 papillary thyroid microcarcinoma 9.6 NKX2-1 TG TSHR
44 dyshormonogenic goiter 9.6 SERPINA7 SLC26A4 TG
45 autoimmune disease of endocrine system 9.6 SERPINA7 TG TSHR
46 cystic teratoma 9.6
47 hyperthyroidism 9.6 SERPINA7 TG TSHR
48 endocrine gland cancer 9.2 LGALS3 PAX8 TG
49 nodular goiter 9.2 LGALS3 TG TSHR
50 thyroid carcinoma, familial medullary 9.2 NKX2-1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
3 constipation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002019
4 macroglossia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000158
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000280
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001263
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 fatigue 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012378
10 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
11 growth delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001510
12 jaundice 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000952
13 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000239
14 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003270
15 thyroid hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005990
16 hypersomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100786
17 thyroid agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008191
18 hypothermia 32 HP:0002045
19 delayed skeletal maturation 32 HP:0002750
20 feeding difficulties in infancy 32 HP:0008872
21 hoarse cry 32 HP:0001615
22 dry skin 32 HP:0000958
23 goiter 32 HP:0000853
24 abnormality of the face 59 Very frequent (99-80%),Very frequent (99-80%)
25 lethargy 32 HP:0001254
26 hyperbilirubinemia 32 HP:0002904
27 stridor 32 HP:0010307
28 generalized hypotonia 32 HP:0001290
29 congenital hypothyroidism 32 HP:0000851
30 ectopic thyroid 32 HP:0100028
31 bradycardia 32 HP:0001662
32 large posterior fontanelle 32 HP:0004491
33 increased thyroid-stimulating hormone level 32 HP:0002925

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 FOXE1 NKX2-1 PAX8 SLC26A4 TG TSHR
2 homeostasis/metabolism MP:0005376 9.8 TG TSHR FOXE1 LGALS3 NKX2-1 PAX8
3 nervous system MP:0003631 9.63 LGALS3 NKX2-1 PAX8 SLC26A4 TG TSHR
4 reproductive system MP:0005389 9.35 LGALS3 NKX2-1 PAX8 SLC26A4 TSHR
5 skeleton MP:0005390 9.02 LGALS3 NKX2-1 PAX8 SLC26A4 TSHR

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 29 PAX8
2 Thyroid Hypoplasia 29

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 2

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

41
Thyroid, Tongue, Skin

Publications for Hypothyroidism, Congenital, Nongoitrous, 2

Articles related to Hypothyroidism, Congenital, Nongoitrous, 2:

(show all 49)
# Title Authors Year
1
Mutations in BOREALIN cause thyroid dysgenesis. ( 28025328 )
2017
2
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. ( 26757609 )
2016
3
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant. ( 26495924 )
2016
4
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis. ( 25353184 )
2015
5
A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis. ( 26617871 )
2015
6
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis. ( 26421664 )
2015
7
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis. ( 25277881 )
2014
8
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. ( 25153580 )
2014
9
An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis. ( 24859513 )
2014
10
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. ( 24690939 )
2014
11
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis. ( 24248179 )
2014
12
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. ( 25214233 )
2014
13
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
14
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis. ( 22666732 )
2012
15
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. ( 22876533 )
2012
16
Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism. ( 22876532 )
2012
17
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. ( 23285148 )
2012
18
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. ( 21450989 )
2011
19
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. ( 21054242 )
2011
20
Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. ( 21060249 )
2011
21
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
22
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. ( 20094846 )
2010
23
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ( 20427504 )
2010
24
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. ( 19542741 )
2009
25
Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis. ( 19844119 )
2009
26
Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis. ( 18410549 )
2008
27
Possible non-Mendelian mechanisms of thyroid dysgenesis. ( 17684388 )
2007
28
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. ( 17717707 )
2007
29
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in QuAcbec. ( 17504897 )
2007
30
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. ( 16418214 )
2006
31
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
32
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. ( 15494458 )
2005
33
Resistance to thyroid hormone in a patient with thyroid dysgenesis. ( 16053391 )
2005
34
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes. ( 15547625 )
2005
35
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. ( 15329322 )
2004
36
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. ( 15108207 )
2004
37
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. ( 15301052 )
2004
38
Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns. ( 12727946 )
2003
39
Familial form of thyroid dysgenesis: report of thyroid hemiagenesis with accompanying Graves' disease in a woman whose daughter has thyroid agenesis. ( 12566736 )
2003
40
Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. ( 14602741 )
2003
41
Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. ( 11580993 )
2001
42
Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. ( 11598612 )
2001
43
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. ( 9590296 )
1998
44
Sequence analysis of thyroid transcription factor-1 gene reveals absence of mutations in patients with thyroid dysgenesis but presence of polymorphisms in the 5' flanking region and intron. ( 9881907 )
1998
45
A mouse model for hereditary thyroid dysgenesis and cleft palate. ( 9697704 )
1998
46
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. ( 9226207 )
1997
47
Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. ( 9226206 )
1997
48
The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis. ( 8981017 )
1996
49
Rubella antibody in neonatal hypothyroidism due to thyroid dysgenesis. ( 7250000 )
1981

Variations for Hypothyroidism, Congenital, Nongoitrous, 2

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

75
# 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 PAX8 NM_013953.3(PAX8): c.143C> T (p.Ser48Phe) single nucleotide variant Pathogenic rs121917719 GRCh37 Chromosome 2, 114004379: 114004379
2 PAX8 NM_013953.3(PAX8): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs104893655 GRCh37 Chromosome 2, 114002071: 114002071
3 PAX8 NM_013953.3(PAX8): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs104893655 GRCh38 Chromosome 2, 113244494: 113244494
4 PAX8 NM_013953.3(PAX8): c.92G> A (p.Arg31His) single nucleotide variant Pathogenic rs104893657 GRCh37 Chromosome 2, 114004430: 114004430
5 PAX8 NM_013953.3(PAX8): c.92G> A (p.Arg31His) single nucleotide variant Pathogenic rs104893657 GRCh38 Chromosome 2, 113246853: 113246853
6 PAX8 NM_013953.3(PAX8): c.185T> G (p.Leu62Arg) single nucleotide variant Pathogenic rs104893658 GRCh37 Chromosome 2, 114004337: 114004337
7 PAX8 NM_013953.3(PAX8): c.185T> G (p.Leu62Arg) single nucleotide variant Pathogenic rs104893658 GRCh38 Chromosome 2, 113246760: 113246760
8 PAX8 NM_013953.3(PAX8): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs104893659 GRCh37 Chromosome 2, 114004352: 114004352
9 PAX8 NM_013953.3(PAX8): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs104893659 GRCh38 Chromosome 2, 113246775: 113246775
10 PAX8 NM_013953.3(PAX8): c.160A> G (p.Ser54Gly) single nucleotide variant Pathogenic rs104893660 GRCh37 Chromosome 2, 114004362: 114004362
11 PAX8 NM_013953.3(PAX8): c.160A> G (p.Ser54Gly) single nucleotide variant Pathogenic rs104893660 GRCh38 Chromosome 2, 113246785: 113246785
12 PAX8 NM_013953.3(PAX8): c.119A> C (p.Gln40Pro) single nucleotide variant Pathogenic rs104893656 GRCh37 Chromosome 2, 114004403: 114004403
13 PAX8 NM_013953.3(PAX8): c.119A> C (p.Gln40Pro) single nucleotide variant Pathogenic rs104893656 GRCh38 Chromosome 2, 113246826: 113246826
14 PAX8 NM_013953.3(PAX8): c.143C> T (p.Ser48Phe) single nucleotide variant Pathogenic rs121917719 GRCh38 Chromosome 2, 113246802: 113246802
15 COPB1; CYP2R1; PDE3B; PSMA1 GRCh37/hg19 11p15.2(chr11: 14504463-14909461)x1 copy number loss Likely pathogenic GRCh37 Chromosome 11, 14504463: 14909461
16 CYP2R1; PDE3B; PSMA1 GRCh37/hg19 11p15.2(chr11: 14657389-14918308)x1 copy number loss Likely pathogenic GRCh37 Chromosome 11, 14657389: 14918308
17 ARID4A; PSMA3; TIMM9; TOMM20L GRCh37/hg19 14q23.1(chr14: 58737402-58884615)x1 copy number loss Likely pathogenic GRCh37 Chromosome 14, 58737402: 58884615
18 ARID4A; PSMA3; TIMM9; TOMM20L GRCh37/hg19 14q23.1(chr14: 58737402-58891576)x1 copy number loss Likely pathogenic GRCh37 Chromosome 14, 58737402: 58891576
19 VPS13C GRCh37/hg19 15q22.2(chr15: 62128861-62340126)x1 copy number loss Likely pathogenic GRCh37 Chromosome 15, 62128861: 62340126
20 VPS13C GRCh37/hg19 15q22.2(chr15: 62155282-62332980)x1 copy number loss Likely pathogenic GRCh37 Chromosome 15, 62155282: 62332980
21 PSMD3 GRCh37/hg19 17q21.1(chr17: 38146929-38153473)x1 copy number loss Likely pathogenic GRCh37 Chromosome 17, 38146929: 38153473
22 LINC01121 GRCh37/hg19 2p21(chr2: 45453858-45455897)x3 copy number gain Likely pathogenic GRCh37 Chromosome 2, 45453858: 45455897
23 LINC01121 GRCh37/hg19 2p21(chr2: 45454554-45457111)x3 copy number gain Likely pathogenic GRCh37 Chromosome 2, 45454554: 45457111
24 PAX8 NM_003466.3(PAX8): c.160A> T (p.Ser54Cys) single nucleotide variant Likely pathogenic rs104893660 GRCh37 Chromosome 2, 114004362: 114004362
25 PAX8 NM_003466.3(PAX8): c.160A> T (p.Ser54Cys) single nucleotide variant Likely pathogenic rs104893660 GRCh38 Chromosome 2, 113246785: 113246785

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
11.88 PAX8 SERPINA7 SLC26A4 TG TSHR
2 10.99 PAX8 TSHR
3 9.73 TG 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 iodide transport GO:0015705 9.16 SLC26A4 TG
2 thyroid-stimulating hormone signaling pathway GO:0038194 8.96 PAX8 TSHR
3 thyroid gland development GO:0030878 8.92 FOXE1 NKX2-1 PAX8 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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