MCID: RRH009
MIFTS: 23

Rare Hypothyroidism

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Hypothyroidism

MalaCards integrated aliases for Rare Hypothyroidism:

Name: Rare Hypothyroidism 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

UMLS via Orphanet 72 C0020676
Orphanet 58 ORPHA181396

Summaries for Rare Hypothyroidism

MalaCards based summary : Rare Hypothyroidism is related to visual epilepsy and vesicoureteral reflux 1. An important gene associated with Rare Hypothyroidism is ADNP (Activity Dependent Neuroprotector Homeobox), and among its related pathways/superpathways are Pathways in cancer and Colorectal Cancer Metastasis. Affiliated tissues include thyroid and pituitary, and related phenotypes are Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation and embryo

Related Diseases for Rare Hypothyroidism

Symptoms & Phenotypes for Rare Hypothyroidism

GenomeRNAi Phenotypes related to Rare Hypothyroidism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 ADNP GNB1 STAT1

MGI Mouse Phenotypes related to Rare Hypothyroidism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 ADNP CHD7 GNB1 RET
2 mortality/aging MP:0010768 9.35 ADNP CHD7 GNB1 RET STAT1
3 nervous system MP:0003631 9.02 ADNP CHD7 GNB1 RET STAT1

Drugs & Therapeutics for Rare Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Rare Hypothyroidism

Genetic Tests for Rare Hypothyroidism

Anatomical Context for Rare Hypothyroidism

MalaCards organs/tissues related to Rare Hypothyroidism:

40
Thyroid, Pituitary

Publications for Rare Hypothyroidism

Articles related to Rare Hypothyroidism:

# Title Authors PMID Year
1
Depression led pitting edema: A rarest case presentation. 61
29114198 2017
2
New Daily Persistent Headache Caused by a Multinodular Goiter and Headaches Associated With Thyroid Disease. 61
28025831 2017
3
Very early onset of autoimmune thyroiditis in a toddler with severe hypothyroidism presentation: a case report. 61
27316517 2016
4
[Palmoplantar keratoderma: a rare manifestation of myxoedema]. 61
24461093 2014
5
High rate of hypothyroidism among patients treated for multidrug-resistant tuberculosis in Lesotho. 61
22326109 2012
6
Adolescent with Rhabdomyolysis due to Undiagnosed Hypothyroidism. 61
22606520 2011
7
Primary thyroid tuberculosis: a rare etiology of hypothyroidism and anterior cervical mass mimicking carcinoma. 61
19649388 2009
8
Massive pericardial effusion secondary to Hashimoto's disease. 61
17693236 2007
9
The hypothalamic-pituitary-thyroid axis and the female reproductive system. 61
10818393 2000
10
Transsphenoidal adenomectomy in Cushing's disease via a lateral rhinotomy approach. 61
9199682 1997

Variations for Rare Hypothyroidism

ClinVar genetic disease variations for Rare Hypothyroidism:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
2 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
3 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)SNV Pathogenic 144006 rs587777630 2:191851647-191851647 2:190986921-190986921
4 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)SNV Pathogenic 279598 rs886041116 20:49509063-49509063 20:50892526-50892526
5 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)SNV Pathogenic 374090 rs1057518891 8:61767038-61767038 8:60854479-60854479
6 POGZ NM_015100.4(POGZ):c.402_409dup (p.His137fs)duplication Likely pathogenic 373957 rs1057518799 1:151403191-151403192 1:151430715-151430716
7 TG NM_003235.5(TG):c.5804del (p.Asn1935fs)deletion Likely pathogenic 689597 8:133980155-133980155 8:132967910-132967910
8 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)SNV Uncertain significance 523539 rs1556948950 X:53596615-53596615 X:53569655-53569655
9 ARID1B , TMEM242 , ZDHHC14 GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3copy number gain Uncertain significance 523303 6:156772218-157870875
10 PAX8 NM_003466.4(PAX8):c.1011del (p.Val339fs)deletion Uncertain significance 598954 rs1558700308 2:113993047-113993047 2:113235470-113235470
11 SCNN1A NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)SNV Uncertain significance 598965 rs72657556 12:6458505-6458505 12:6349339-6349339

Expression for Rare Hypothyroidism

Search GEO for disease gene expression data for Rare Hypothyroidism.

Pathways for Rare Hypothyroidism

Pathways related to Rare Hypothyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.86 STAT1 RET GNB1
2 11.47 STAT1 GNB1
3 11.04 STAT1 GNB1
4 10.46 STAT1 GNB1

GO Terms for Rare Hypothyroidism

Cellular components related to Rare Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 STAT1 RET ADNP
2 dendrite GO:0030425 8.92 STAT1 RET GNB1 ADNP

Biological processes related to Rare Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron projection development GO:0010976 9.26 RET ADNP
2 blood circulation GO:0008015 9.16 STAT1 CHD7
3 innervation GO:0060384 8.96 RET CHD7
4 retina development in camera-type eye GO:0060041 8.8 RET GNB1 CHD7

Molecular functions related to Rare Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 promoter-specific chromatin binding GO:1990841 8.62 STAT1 CHD7

Sources for Rare Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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