MCID: HYP715
MIFTS: 39

Hypothyroidism, Congenital, Nongoitrous 4

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous 4

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous 4:

Name: Hypothyroidism, Congenital, Nongoitrous 4 54
Tsh Deficiency 50 24 52
Thyrotropin Deficiency, Isolated 50 24
Pituitary Cretinism 50 24
Isolated Thyroid-Stimulating Hormone Deficiency 56
Thyroid-Stimulating Hormone, Deficiency of 50
Hypothyroidism, Congenital, Nongoitrous, 4 69
Congenital Hypothyroidism, Nongoitrous 4 24
Thyroid-Stimulating Hormone Deficiency 24
Secondary Hypothyroidism 69
Isolated Tsh Deficiency 56
Chng4 24

Characteristics:

Orphanet epidemiological data:

56
isolated thyroid-stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hypothyroidism, congenital, nongoitrous 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous 4

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous 4, also known as tsh deficiency, is related to adenohypophysitis and central congenital hypothyroidism, and has symptoms including macroglossia, umbilical hernia and jaundice. An important gene associated with Hypothyroidism, Congenital, Nongoitrous 4 is TSHB (Thyroid Stimulating Hormone Beta), and among its related pathways/superpathways are Insulin secretion and Peptide hormone metabolism. Affiliated tissues include thyroid and pituitary, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Description from OMIM: 275100

Related Diseases for Hypothyroidism, Congenital, Nongoitrous 4

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 1 family:

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

Diseases related to Hypothyroidism, Congenital, Nongoitrous 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
id Related Disease Score Top Affiliating Genes
1 adenohypophysitis 29.7 TG TPO
2 central congenital hypothyroidism 10.8
3 isolated klippel-feil syndrome 10.7 POU1F1 PROP1
4 complement receptor deficiency 10.7 POU1F1 PROP1
5 corticosterone methyloxidase deficiency 10.6 POU1F1 PROP1
6 g6pc3 deficiency 10.6 GH1 PRL
7 aminoacylase 1 deficiency 10.6 POU1F1 PROP1
8 glassy cell carcinoma of the cervix 10.5 GH1 PRL
9 lymphohistiocytoid mesothelioma 10.5 POU1F1 PRL
10 cholangiolocellular carcinoma 10.5 POMC TSHB
11 47,xyy syndrome 10.4 GH1 PRL
12 lymphoma, gastric non hodgkins type 10.4 GH1 POMC
13 african histoplasmosis 10.4 POMC PRL
14 lymphoepithelioma-like carcinoma 10.4 POMC PRL
15 olfactory nerve neoplasm 10.4 POMC PRL
16 osteoclast-like giant cell neoplasm of the pancreas 10.4 POMC PRL
17 vertebral artery occlusion 10.4 POMC PRL
18 actinobacillosis 10.4 POMC PRL
19 retinitis pigmentosa 46 10.3 POMC PRL
20 combined t cell and b cell immunodeficiency 10.3 GH1 PRL TSHB
21 sphingolipidosis 10.3 POMC PRL
22 trabecular follicular adenocarcinoma 10.3 POMC PRL
23 uterine corpus adenocarcinofibroma 10.2 POMC PRL
24 bronchiectasis 10.2 POMC PRL
25 pityriasis rotunda 10.2 GH1 POU1F1 PRL
26 mental retardation, x-linked syndromic, christianson type 10.2 POU1F1 PROP1
27 thyrotoxic exophthalmos 10.2 POMC TG
28 maxillary sinus adenoid cystic carcinoma 10.2 TG TPO
29 rhabdomyosarcoma, embryonal, 2 10.2 TG TPO
30 nephrogenic systemic fibrosis 10.2 TG TPO
31 chronic dacryoadenitis 10.2 PRL TPO
32 guillain-barre syndrome 10.2 POMC TG
33 parietal lobe neoplasm 10.1 POMC TG
34 tick paralysis 10.1 TG TPO
35 chronic frontal sinusitis 10.1 TG TPO
36 fallopian tube leiomyoma 10.1 PRL TG
37 acute myocarditis 10.1 POMC PRL
38 amelogenesis imperfecta, hypomaturation type, iia6 10.1 TG TPO
39 cerebral lipidosis 10.1 TG TPO
40 iridocyclitis 10.1 PRL TG
41 conjunctival deposit 10.1 TG TPO
42 endemic goiter 10.1 TG TPO
43 lipase deficiency, combined 10.1 GH1 IGF1
44 lung occult large cell carcinoma 10.1 TG TPO
45 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.1 GH1 IGF1
46 color blindness 10.1 TG TPO
47 aortic valve atresia 10.1 GH1 POMC PRL
48 intermittent squint 10.1 GH1 POMC PRL
49 lactic acidosis 10.1 GH1 POMC PRL
50 strabismus 10.1 GH1 POMC PRL

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous 4:



Diseases related to Hypothyroidism, Congenital, Nongoitrous 4

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous 4

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Abdomen- External Features:
umbilical hernia
omphalocele (rare)

Growth- Other:
growth retardation, severe (if untreated)

Neurologic- Central Nervous System:
mental retardation, severe (if untreated)

Endocrine Features:
hypothyroidism, nongoitrous

Head And Neck- Mouth:
macroglossia

Head And Neck- Nose:
depressed nasal bridge

Skeletal- Skull:
large anterior fontanelle
open posterior fontanelle

Voice:
hoarse cry

Laboratory- Abnormalities:
low to normal tsh (values may vary depending on the measurement methods used)


Clinical features from OMIM:

275100

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous 4:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
3 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
4 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
6 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
8 feeding difficulties 56 32 hallmark (90%) Very frequent (99-80%) HP:0011968
9 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
10 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
11 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
12 sleep disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0002360
13 intellectual disability, severe 32 HP:0010864
14 depressed nasal bridge 32 HP:0005280
15 omphalocele 32 HP:0001539
16 hoarse cry 32 HP:0001615
17 wide anterior fontanel 32 HP:0000260
18 congenital hypothyroidism 32 HP:0000851
19 severe postnatal growth retardation 32 HP:0008850
20 abnormality of metabolism/homeostasis 32 HP:0001939
21 intellectual disability, progressive 32 HP:0006887

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous 4:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.92 IGF1 PBX1 POMC POU1F1 PRL PROP1
2 growth/size/body region MP:0005378 9.86 IGF1 PBX1 POMC POU1F1 PROP1 TG
3 homeostasis/metabolism MP:0005376 9.76 IGF1 PBX1 POMC POU1F1 PRL PROP1
4 nervous system MP:0003631 9.5 IGF1 PBX1 POMC POU1F1 PRL PROP1
5 reproductive system MP:0005389 9.1 PRL PROP1 TSHB IGF1 PBX1 POU1F1

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous 4

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous 4

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous 4

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous 4:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism, Nongoitrous 4 24 TSHB

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous 4

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous 4:

39
Thyroid, Pituitary

Publications for Hypothyroidism, Congenital, Nongoitrous 4

Variations for Hypothyroidism, Congenital, Nongoitrous 4

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh37 Chromosome 1, 115576128: 115576128
2 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh37 Chromosome 1, 115576077: 115576077
3 TSHB TSHB, 1-BP DEL, 313T deletion Pathogenic
4 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh37 Chromosome 1, 115576636: 115576636
5 TSHB TSHB, IVS2, G-A, +5 single nucleotide variant Pathogenic
6 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic rs755485552 GRCh37 Chromosome 1, 115576804: 115576804

Expression for Hypothyroidism, Congenital, Nongoitrous 4

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous 4.

Pathways for Hypothyroidism, Congenital, Nongoitrous 4

GO Terms for Hypothyroidism, Congenital, Nongoitrous 4

Cellular components related to Hypothyroidism, Congenital, Nongoitrous 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 GH1 IGF1 POMC PRL TG TSHB
2 extracellular space GO:0005615 9.35 GH1 IGF1 POMC TPO TSHB
3 transcription factor complex GO:0005667 9.33 PBX1 POU1F1 PROP1
4 endosome lumen GO:0031904 8.62 GH1 PRL

Biological processes related to Hypothyroidism, Congenital, Nongoitrous 4 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.85 IGF1 PBX1 POMC POU1F1 PROP1
2 positive regulation of multicellular organism growth GO:0040018 9.49 GH1 POU1F1
3 regulation of multicellular organism growth GO:0040014 9.48 IGF1 PRL
4 peptide hormone processing GO:0016486 9.43 POMC TSHB
5 positive regulation of JAK-STAT cascade GO:0046427 9.4 GH1 PRL
6 embryonic hemopoiesis GO:0035162 9.37 PBX1 TPO
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.32 GH1 PRL
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.26 GH1 IGF1
9 hormone biosynthetic process GO:0042446 9.16 TG TPO
10 adenohypophysis development GO:0021984 8.96 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 8.62 POU1F1 PROP1

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.1 GH1 IGF1 POMC PRL TG TSHB
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Hypothyroidism, Congenital, Nongoitrous 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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