MCID: HYP647
MIFTS: 29

Hypogonadotropic Hypogonadism 24 Without Anosmia

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 24 Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 24 Without Anosmia:

Name: Hypogonadotropic Hypogonadism 24 Without Anosmia 54 12 71 14
Follicle-Stimulating Hormone Deficiency, Isolated 50 71 29 13 69
Isolated Follicle-Stimulating Hormone Deficiency 12 24
Isolated Fsh Deficiency 50 56
Isolated Follicle-Stimulating Hormone Deficiency 50
Isolated Follicle Stimulating Hormone Deficiency 56
Isolated Follitropin Deficiency 69
Hh24 71

Characteristics:

Orphanet epidemiological data:

56
isolated follicle stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
some female patients can conceive after administration of gonadotropins


HPO:

32
hypogonadotropic hypogonadism 24 without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 229070
Disease Ontology 12 DOID:0090088
ICD10 33 E23.6
Orphanet 56 ORPHA52901
MESH via Orphanet 43 C537070
UMLS via Orphanet 70 C1856716 C0342386
ICD10 via Orphanet 34 E23.6
MedGen 40 C1856716

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 azoospermia, oligospermia and primary amenorrhea. An important gene associated with Hypogonadotropic Hypogonadism 24 Without Anosmia is FSHB (Follicle Stimulating Hormone Beta Subunit). Affiliated tissues include pituitary, testes and bone.

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:

id Related Disease Score Top Affiliating Genes
1 amenorrhea 9.7
2 infertility 9.7
3 myopia 7 9.5 FHL2 FSHB

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 24 Without Anosmia

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
delayed bone age

Genitourinary- Internal Genitalia Male:
small testes
oligospermia/azoospermia
leydig cell hyperplasia
sparse small seminiferous tubules
peritubular fibrosis
more
Genitourinary- Internal Genitalia Female:
primary amenorrhea
primordial follicles

Muscle Soft Tissue:
underdeveloped muscles (in some patients)

Endocrine Features:
infertility
hypogonadotropic hypogonadism
low or undetectable fsh levels
normal to high lh levels
normal to low testosterone levels
more
Chest- Breasts:
delayed or absent thelarche

Head And Neck- Nose:
normal sense of smell

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


Clinical features from OMIM:

229070

Human phenotypes related to Hypogonadotropic Hypogonadism 24 Without Anosmia:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 56 32 frequent (33%) Frequent (79-30%) HP:0000027
2 oligospermia 56 32 frequent (33%) Frequent (79-30%) HP:0000798
3 primary amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000786
4 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 oligomenorrhea 56 32 frequent (33%) Frequent (79-30%) HP:0000876
6 abnormal sperm morphology 56 32 frequent (33%) Frequent (79-30%) HP:0012864
7 sparse pubic hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002225
8 sparse axillary hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002215
9 testicular atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000029
10 gonadotropin deficiency 56 32 obligate (100%) Obligate (100%) HP:0008213
11 decreased testicular size 56 32 hallmark (90%) Very frequent (99-80%) HP:0008734
12 decreased testosterone in males 56 32 hallmark (90%) Very frequent (99-80%) HP:0008230
13 hypogonadotrophic hypogonadism 56 32 obligate (100%) Obligate (100%) HP:0000044
14 decreased serum estradiol 56 32 hallmark (90%) Very frequent (99-80%) HP:0008214
15 male hypogonadism 56 32 obligate (100%) Obligate (100%) HP:0000026
16 female hypogonadism 56 32 obligate (100%) Obligate (100%) HP:0000134
17 decreased female libido 56 32 frequent (33%) Frequent (79-30%) HP:0030018
18 delayed menarche 56 32 hallmark (90%) Very frequent (99-80%) HP:0012569
19 hyperplasia of the leydig cells 56 32 frequent (33%) Frequent (79-30%) HP:0010791
20 bilateral breast hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0012814
21 infertility 32 HP:0000789
22 delayed puberty 56 Very frequent (99-80%)
23 anosmia 56 Excluded (0%)
24 decreased muscle mass 32 occasional (7.5%) HP:0003199
25 abnormality of metabolism/homeostasis 32 HP:0001939
26 low gonadotropins (secondary hypogonadism) 56 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:

id Genetic test Affiliating Genes
1 Follicle-Stimulating Hormone Deficiency, Isolated 29
2 Isolated Follicle-Stimulating Hormone Deficiency 24 FSHB

Anatomical Context for Hypogonadotropic Hypogonadism 24 Without Anosmia

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

39
Pituitary, Testes, Bone, Breast

Publications for Hypogonadotropic Hypogonadism 24 Without Anosmia

Variations for Hypogonadotropic Hypogonadism 24 Without Anosmia

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 FSHB NM_000510.2(FSHB): c.236_237delTG (p.Val79Glufs) deletion 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

GO Terms for Hypogonadotropic Hypogonadism 24 Without Anosmia

Sources for Hypogonadotropic Hypogonadism 24 Without Anosmia

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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