MCID: HYP610
MIFTS: 20

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 54 71 29 13 69
X-Linked Central Congenital Hypothyroidism with Late-Onset Testicular Enlargement 56
X-Linked Central Congenital Hypothyroidism with Late-Onset Macroorchidism 56
Central Hypothyroidism and Testicular Enlargement 24
Igsf1 Deficiency Syndrome 56
Chte 71

Characteristics:

Orphanet epidemiological data:

56
x-linked central congenital hypothyroidism with late-onset testicular enlargement
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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: 56  
Rare endocrine diseases


External Ids:

OMIM 54 300888
Orphanet 56 ORPHA329235
ICD10 via Orphanet 34 E03.1
MeSH 42 D003409
SNOMED-CT via HPO 65 40930008

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 x-linked central congenital hypothyroidism with late-onset testicular enlargement, is related to hypothyroidism, and has symptoms including hypothyroidism and overweight. 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:

id Related Disease Score Top Affiliating Genes
1 hypothyroidism 9.8

Symptoms & Phenotypes for Hypothyroidism, Central, and Testicular Enlargement

Symptoms via clinical synopsis from OMIM:

54

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
id Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821

UMLS symptoms related to Hypothyroidism, Central, and Testicular Enlargement:


overweight

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:

id Genetic test Affiliating Genes
1 Hypothyroidism, Central, and Testicular Enlargement 29
2 Central Hypothyroidism and Testicular Enlargement 24 IGSF1

Anatomical Context for Hypothyroidism, Central, and Testicular Enlargement

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

39
Thyroid, Pituitary

Publications for Hypothyroidism, Central, and Testicular Enlargement

Variations for Hypothyroidism, Central, and Testicular Enlargement

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

71
id 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
id 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
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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