MCID: HYP610
MIFTS: 21

Hypothyroidism, Central, and Testicular Enlargement

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

Aliases & Classifications for Hypothyroidism, Central, and Testicular Enlargement

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

Name: Hypothyroidism, Central, and Testicular Enlargement 53 71 28 13 69
Chte 53 71
X-Linked Central Congenital Hypothyroidism with Late-Onset Testicular Enlargement 55
X-Linked Central Congenital Hypothyroidism with Late-Onset Macroorchidism 55
Central Hypothyroidism and Testicular Enlargement 36
Igsf1 Deficiency Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
x-linked central congenital hypothyroidism with late-onset testicular enlargement
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
intrafamilial variability in severity of hypothyroidism


HPO:

31
hypothyroidism, central, and testicular enlargement:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

OMIM 53 300888
Orphanet 55 ORPHA329235
ICD10 via Orphanet 33 E03.1
MeSH 41 D003409
KEGG 36 H02034
SNOMED-CT via HPO 65 40930008
UMLS 69 C3550963

Summaries for Hypothyroidism, Central, and Testicular Enlargement

UniProtKB/Swiss-Prot : 71 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, and has symptoms including overweight and hypothyroidism. An important gene associated with Hypothyroidism, Central, and Testicular Enlargement is IGSF1 (Immunoglobulin Superfamily Member 1). Affiliated tissues include thyroid and pituitary.

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 overweight 31 HP:0025502
2 hypothyroidism 31 HP:0000821

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 28 IGSF1

Anatomical Context for Hypothyroidism, Central, and Testicular Enlargement

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

38
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:

71
# 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
# 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.2931G> A (p.Trp977Ter) single nucleotide variant Pathogenic rs398122919 GRCh37 Chromosome X, 130409720: 130409720
3 IGSF1 NM_001170961.1(IGSF1): c.2248delG (p.Glu750Lysfs) deletion Pathogenic rs398122920 GRCh37 Chromosome X, 130411917: 130411917
4 IGSF1 NM_001170961.1(IGSF1): c.2588C> T (p.Ser863Phe) single nucleotide variant Pathogenic rs397514622 GRCh37 Chromosome X, 130410948: 130410948
5 IGSF1 NM_001170961.1(IGSF1): c.3596dupT (p.Glu1200Argfs) duplication Pathogenic rs398122921 GRCh37 Chromosome X, 130408743: 130408743

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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