CHTE
MCID: HYP610
MIFTS: 40

Hypothyroidism, Central, and Testicular Enlargement (CHTE)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypothyroidism, Central, and Testicular Enlargement

MalaCards integrated aliases for Hypothyroidism, Central, and Testicular Enlargement:

Name: Hypothyroidism, Central, and Testicular Enlargement 57 75 29 13 6 73
Igsf1 Deficiency Syndrome 12 59 15
Chte 57 12 75
X-Linked Central Congenital Hypothyroidism with Late-Onset Testicular Enlargement 12 59
X-Linked Central Congenital Hypothyroidism with Late-Onset Macroorchidism 12 59
Central Hypothyroidism and Testicular Enlargement 12 37
Hypothyroidism, Central, Testicular Enlargement 40

Characteristics:

Orphanet epidemiological data:

59
x-linked central congenital hypothyroidism with late-onset testicular enlargement
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
intrafamilial variability in severity of hypothyroidism


HPO:

32
hypothyroidism, central, and testicular enlargement:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 300888
Disease Ontology 12 DOID:0111140
ICD10 33 E03.1
Orphanet 59 ORPHA329235
ICD10 via Orphanet 34 E03.1
MeSH 44 D003409
KEGG 37 H02034
SNOMED-CT via HPO 69 40930008
UMLS 73 C3550963

Summaries for Hypothyroidism, Central, and Testicular Enlargement

UniProtKB/Swiss-Prot : 75 Hypothyroidism, central, and testicular enlargement: A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.

MalaCards based summary : Hypothyroidism, Central, and Testicular Enlargement, also known as igsf1 deficiency syndrome, is related to hypothyroidism and acth deficiency, isolated. An important gene associated with Hypothyroidism, Central, and Testicular Enlargement is IGSF1 (Immunoglobulin Superfamily Member 1), and among its related pathways/superpathways is Amine-derived hormones. Affiliated tissues include thyroid, pituitary and ovary, and related phenotypes are hypothyroidism and overweight

Disease Ontology : 12 An X-linked recessive disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26.

Description from OMIM: 300888

Related Diseases for Hypothyroidism, Central, and Testicular Enlargement

Graphical network of the top 20 diseases related to Hypothyroidism, Central, and Testicular Enlargement:



Diseases related to Hypothyroidism, Central, and Testicular Enlargement

Symptoms & Phenotypes for Hypothyroidism, Central, and Testicular Enlargement

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
overweight

Growth Height:
delayed growth spurt in puberty
average height in adulthood

Endocrine Features:
decreased serum prolactin
hypothyroidism, central
decreased growth hormone (in some patients)
delayed testosterone increase at puberty
normal testosterone levels in adulthood

Genitourinary External Genitalia Male:
normal testicular volume in childhood
enlarged testicles in adulthood


Clinical features from OMIM:

300888

Human phenotypes related to Hypothyroidism, Central, and Testicular Enlargement:

32
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 overweight 32 HP:0025502

GenomeRNAi Phenotypes related to Hypothyroidism, Central, and Testicular Enlargement according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HDAC inhibitor resistance GR00115-A-0 8.62 LIF LIFR

MGI Mouse Phenotypes related to Hypothyroidism, Central, and Testicular Enlargement:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 CYP19A1 DUOX2 HOXA10 IGSF1 LIF LIFR
2 growth/size/body region MP:0005378 9.85 CYP19A1 DUOX2 HOXA10 IGSF1 LIF LIFR
3 nervous system MP:0003631 9.61 CYP19A1 DUOX2 HOXA10 IGSF1 LIF LIFR
4 reproductive system MP:0005389 9.28 CYP19A1 DUOX2 HOXA10 IGSF1 LIF LIFR

Drugs & Therapeutics for Hypothyroidism, Central, and Testicular Enlargement

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Central, and Testicular Enlargement

Genetic Tests for Hypothyroidism, Central, and Testicular Enlargement

Genetic tests related to Hypothyroidism, Central, and Testicular Enlargement:

# Genetic test Affiliating Genes
1 Hypothyroidism, Central, and Testicular Enlargement 29 IGSF1

Anatomical Context for Hypothyroidism, Central, and Testicular Enlargement

MalaCards organs/tissues related to Hypothyroidism, Central, and Testicular Enlargement:

41
Thyroid, Pituitary, Ovary

Publications for Hypothyroidism, Central, and Testicular Enlargement

Articles related to Hypothyroidism, Central, and Testicular Enlargement:

# Title Authors Year
1
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome. ( 30086211 )
2018
2
Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome. ( 26387489 )
2016
3
Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome. ( 26336917 )
2016
4
IGSF1 deficiency syndrome: A newly uncovered endocrinopathy. ( 25002994 )
2013
5
The IGSF1 deficiency syndrome: characteristics of male and female patients. ( 24108313 )
2013

Variations for Hypothyroidism, Central, and Testicular Enlargement

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Central, and Testicular Enlargement:

75
# Symbol AA change Variation ID SNP ID
1 IGSF1 p.Ser765Asn VAR_069269
2 IGSF1 p.Ser858Phe VAR_069270 rs397514622
3 IGSF1 p.Cys942Arg VAR_069271

ClinVar genetic disease variations for Hypothyroidism, Central, and Testicular Enlargement:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 IGSF1 NM_001170961.1(IGSF1): c.2137_2163del27 (p.Ala713_Lys721del) deletion Pathogenic GRCh37 Chromosome X, 130412002: 130412028
2 IGSF1 NM_001170961.1(IGSF1): c.2137_2163del27 (p.Ala713_Lys721del) deletion Pathogenic GRCh38 Chromosome X, 131278028: 131278054
3 IGSF1 NM_001170961.1(IGSF1): c.2931G> A (p.Trp977Ter) single nucleotide variant Pathogenic rs398122919 GRCh37 Chromosome X, 130409720: 130409720
4 IGSF1 NM_001170961.1(IGSF1): c.2931G> A (p.Trp977Ter) single nucleotide variant Pathogenic rs398122919 GRCh38 Chromosome X, 131275746: 131275746
5 IGSF1 NM_001170961.1(IGSF1): c.2248delG (p.Glu750Lysfs) deletion Pathogenic rs398122920 GRCh37 Chromosome X, 130411917: 130411917
6 IGSF1 NM_001170961.1(IGSF1): c.2248delG (p.Glu750Lysfs) deletion Pathogenic rs398122920 GRCh38 Chromosome X, 131277943: 131277943
7 IGSF1 NM_001170961.1(IGSF1): c.2588C> T (p.Ser863Phe) single nucleotide variant Pathogenic rs397514622 GRCh37 Chromosome X, 130410948: 130410948
8 IGSF1 NM_001170961.1(IGSF1): c.2588C> T (p.Ser863Phe) single nucleotide variant Pathogenic rs397514622 GRCh38 Chromosome X, 131276974: 131276974
9 IGSF1 NM_001170961.1(IGSF1): c.3596dupT (p.Glu1200Argfs) duplication Pathogenic rs398122921 GRCh37 Chromosome X, 130408743: 130408743
10 IGSF1 NM_001170961.1(IGSF1): c.3596dupT (p.Glu1200Argfs) duplication Pathogenic rs398122921 GRCh38 Chromosome X, 131274769: 131274769
11 IGSF1 NM_001170961.1(IGSF1): c.2571T> C (p.Tyr857=) single nucleotide variant Benign rs4830219 GRCh37 Chromosome X, 130410965: 130410965
12 IGSF1 NM_001170961.1(IGSF1): c.2571T> C (p.Tyr857=) single nucleotide variant Benign rs4830219 GRCh38 Chromosome X, 131276991: 131276991
13 IGSF1 NM_001170961.1(IGSF1): c.1347A> G (p.Glu449=) single nucleotide variant Benign rs1128617 GRCh38 Chromosome X, 131281844: 131281844
14 IGSF1 NM_001170961.1(IGSF1): c.1347A> G (p.Glu449=) single nucleotide variant Benign rs1128617 GRCh37 Chromosome X, 130415818: 130415818
15 IGSF1 NM_001170961.1(IGSF1): c.948G> A (p.Val316=) single nucleotide variant Benign rs5932877 GRCh38 Chromosome X, 131282984: 131282984
16 IGSF1 NM_001170961.1(IGSF1): c.948G> A (p.Val316=) single nucleotide variant Benign rs5932877 GRCh37 Chromosome X, 130416958: 130416958

Expression for Hypothyroidism, Central, and Testicular Enlargement

Search GEO for disease gene expression data for Hypothyroidism, Central, and Testicular Enlargement.

Pathways for Hypothyroidism, Central, and Testicular Enlargement

Pathways related to Hypothyroidism, Central, and Testicular Enlargement according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.4 DUOX1 DUOX2 TSHB

GO Terms for Hypothyroidism, Central, and Testicular Enlargement

Cellular components related to Hypothyroidism, Central, and Testicular Enlargement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 EDA IGSF1 LIF LIFR PAEP PRL

Biological processes related to Hypothyroidism, Central, and Testicular Enlargement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.76 LIF PRL TRH TSHB
2 cytokine-mediated signaling pathway GO:0019221 9.67 DUOX1 DUOX2 LIF LIFR
3 mammary gland development GO:0030879 9.48 CYP19A1 PRL
4 hydrogen peroxide catabolic process GO:0042744 9.43 DUOX1 DUOX2
5 uterus development GO:0060065 9.4 CYP19A1 HOXA10
6 hormone biosynthetic process GO:0042446 9.32 DUOX1 DUOX2
7 thyroid hormone generation GO:0006590 9.26 DUOX1 DUOX2
8 hydrogen peroxide biosynthetic process GO:0050665 9.16 DUOX1 DUOX2
9 leukemia inhibitory factor signaling pathway GO:0048861 8.96 LIF LIFR
10 cuticle development GO:0042335 8.62 DUOX1 DUOX2

Molecular functions related to Hypothyroidism, Central, and Testicular Enlargement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.33 CYP19A1 DUOX1 DUOX2
2 peroxidase activity GO:0004601 9.26 DUOX1 DUOX2
3 hormone activity GO:0005179 9.13 PRL TRH TSHB
4 NAD(P)H oxidase activity GO:0016174 8.62 DUOX1 DUOX2

Sources for Hypothyroidism, Central, and Testicular Enlargement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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