MCID: HYP647
MIFTS: 30

Hypogonadotropic Hypogonadism 24 Without Anosmia

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 24 Without Anosmia:

Name: Hypogonadotropic Hypogonadism 24 Without Anosmia 53 12 71 14
Follicle-Stimulating Hormone Deficiency, Isolated 53 49 71 28 13 69
Isolated Follicle-Stimulating Hormone Deficiency 12 36
Isolated Fsh Deficiency 49 55
Hh24 53 71
Isolated Follicle-Stimulating Hormone Deficiency 49
Isolated Follicle Stimulating Hormone Deficiency 55
Isolated Follitropin Deficiency 69

Characteristics:

Orphanet epidemiological data:

55
isolated follicle stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
some female patients can conceive after administration of gonadotropins


HPO:

31
hypogonadotropic hypogonadism 24 without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 229070
Disease Ontology 12 DOID:0090088
ICD10 32 E23.6
Orphanet 55 ORPHA52901
MESH via Orphanet 42 C537070
UMLS via Orphanet 70 C1856716 C0342386
ICD10 via Orphanet 33 E23.6
MedGen 39 C1856716
KEGG 36 H01253

Summaries for Hypogonadotropic Hypogonadism 24 Without Anosmia

UniProtKB/Swiss-Prot : 71 Hypogonadotropic hypogonadism 24 without anosmia: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility.

MalaCards based summary : Hypogonadotropic Hypogonadism 24 Without Anosmia, also known as follicle-stimulating hormone deficiency, isolated, is related to amenorrhea and infertility, and has symptoms including delayed skeletal maturation, primary amenorrhea and hypogonadotrophic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 24 Without Anosmia is FSHB (Follicle Stimulating Hormone Beta Subunit), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and GnRH signaling pathway. Affiliated tissues include pituitary, bone and testes.

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.

Description from OMIM: 229070

Related Diseases for Hypogonadotropic Hypogonadism 24 Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 24 Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amenorrhea 9.8
2 infertility 9.8

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 24 Without Anosmia

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Female:
primary amenorrhea
primordial follicles

Skeletal:
delayed bone age

Chest Breasts:
delayed or absent thelarche

Skin Nails Hair Hair:
scant or absent facial hair (in some patients)
scant axillary hair (in some patients)
scant pubic hair (in some patients)

Endocrine Features:
infertility
hypogonadotropic hypogonadism
low or undetectable fsh levels
normal to high lh levels
normal to low testosterone levels
more
Head And Neck Nose:
normal sense of smell

Genitourinary Internal Genitalia Male:
small testes
leydig cell hyperplasia
oligospermia/azoospermia
sparse small seminiferous tubules
peritubular fibrosis
more
Muscle Soft Tissue:
underdeveloped muscles (in some patients)


Clinical features from OMIM:

229070

Human phenotypes related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
3 hypogonadotrophic hypogonadism 55 31 obligate (100%) Obligate (100%) HP:0000044
4 testicular atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000029
5 male hypogonadism 55 31 obligate (100%) Obligate (100%) HP:0000026
6 decreased testicular size 55 31 hallmark (90%) Very frequent (99-80%) HP:0008734
7 azoospermia 55 31 frequent (33%) Frequent (79-30%) HP:0000027
8 oligospermia 55 31 frequent (33%) Frequent (79-30%) HP:0000798
9 decreased serum estradiol 55 31 hallmark (90%) Very frequent (99-80%) HP:0008214
10 decreased testosterone in males 55 31 hallmark (90%) Very frequent (99-80%) HP:0008230
11 female hypogonadism 55 31 obligate (100%) Obligate (100%) HP:0000134
12 sparse pubic hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002225
13 sparse axillary hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002215
14 decreased female libido 55 31 frequent (33%) Frequent (79-30%) HP:0030018
15 oligomenorrhea 55 31 frequent (33%) Frequent (79-30%) HP:0000876
16 gonadotropin deficiency 55 31 obligate (100%) Obligate (100%) HP:0008213
17 delayed menarche 55 31 hallmark (90%) Very frequent (99-80%) HP:0012569
18 hyperplasia of the leydig cells 55 31 frequent (33%) Frequent (79-30%) HP:0010791
19 bilateral breast hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0012814
20 abnormal sperm morphology 55 31 frequent (33%) Frequent (79-30%) HP:0012864
21 anosmia 55 Excluded (0%)
22 delayed puberty 55 Very frequent (99-80%)
23 decreased muscle mass 31 occasional (7.5%) HP:0003199
24 abnormality of metabolism/homeostasis 31 HP:0001939
25 infertility 31 HP:0000789
26 low gonadotropins (secondary hypogonadism) 55 Very frequent (99-80%)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 24 Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 24 Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 24 Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

# Genetic test Affiliating Genes
1 Follicle-Stimulating Hormone Deficiency, Isolated 28 FSHB

Anatomical Context for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

38
Pituitary, Bone, Testes, Breast

Publications for Hypogonadotropic Hypogonadism 24 Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

# Title Authors Year
1
Novel FSHI^ mutation in a male patient with isolated FSH deficiency and infertility. ( 28392474 )
2017
2
A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH. ( 19966036 )
2010
3
The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries. ( 11756367 )
2002

Variations for Hypogonadotropic Hypogonadism 24 Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 24 Without Anosmia:

71
# Symbol AA change Variation ID SNP ID
1 FSHB p.Cys69Gly VAR_033015 rs5030776

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 24 Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FSHB NM_000510.2(FSHB): c.236_237delTG (p.Val79Glufs) deletion Pathogenic/Likely pathogenic rs5030646 GRCh38 Chromosome 11, 30233646: 30233647
2 FSHB NM_000510.2(FSHB): c.205T> G (p.Cys69Gly) single nucleotide variant Pathogenic rs5030776 GRCh37 Chromosome 11, 30255162: 30255162
3 FSHB NM_000510.2(FSHB): c.282C> A (p.Tyr94Ter) single nucleotide variant Pathogenic rs121909666 GRCh37 Chromosome 11, 30255239: 30255239
4 FSHB NM_000510.2(FSHB): c.298T> C (p.Cys100Arg) single nucleotide variant Pathogenic rs5030777 GRCh38 Chromosome 11, 30233708: 30233708
5 FSHB NM_000510.2(FSHB): c.343C> T (p.Arg115Ter) single nucleotide variant Likely pathogenic rs374623109 GRCh37 Chromosome 11, 30255300: 30255300

Expression for Hypogonadotropic Hypogonadism 24 Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 24 Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 24 Without Anosmia

Pathways related to Hypogonadotropic Hypogonadism 24 Without Anosmia according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 GnRH signaling pathway hsa04912

GO Terms for Hypogonadotropic Hypogonadism 24 Without Anosmia

Sources for Hypogonadotropic Hypogonadism 24 Without Anosmia

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
Content
Loading form....