MCID: HYP610
MIFTS: 21

Hypothyroidism, Central, and Testicular Enlargement

Categories: Genetic diseases, Endocrine 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
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
Igsf1 Deficiency Syndrome 12 59
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 chte, is related to hypothyroidism. An important gene associated with Hypothyroidism, Central, and Testicular Enlargement is IGSF1 (Immunoglobulin Superfamily Member 1). Affiliated tissues include thyroid and pituitary, and related phenotypes are hypothyroidism and overweight

Disease Ontology : 12 An X-linked 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

Diseases related to Hypothyroidism, Central, and Testicular Enlargement via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypothyroidism 9.9

Symptoms & Phenotypes for Hypothyroidism, Central, and Testicular Enlargement

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
delayed growth spurt in puberty
average height in adulthood

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

Growth Weight:
overweight

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

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

Publications for Hypothyroidism, Central, and Testicular Enlargement

Articles related to Hypothyroidism, Central, and Testicular Enlargement:

# Title Authors Year
1
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. ( 23143598 )
2012

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

GO Terms for Hypothyroidism, Central, and Testicular Enlargement

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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