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 57 12 75 15
Follicle-Stimulating Hormone Deficiency, Isolated 57 53 75 29 13 6 40 73
Isolated Follicle-Stimulating Hormone Deficiency 12 37 6
Isolated Fsh Deficiency 53 59
Hh24 57 75
Isolated Follicle-Stimulating Hormone Deficiency 53
Isolated Follicle Stimulating Hormone Deficiency 59
Isolated Follitropin Deficiency 73

Characteristics:

Orphanet epidemiological data:

59
isolated follicle stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult;

OMIM:

57
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 57 229070
Disease Ontology 12 DOID:0090088
ICD10 33 E23.6
Orphanet 59 ORPHA52901
MESH via Orphanet 45 C537070
UMLS via Orphanet 74 C1856716 C0342386
ICD10 via Orphanet 34 E23.6
MedGen 42 C1856716
KEGG 37 H01253

Summaries for Hypogonadotropic Hypogonadism 24 Without Anosmia

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Hypogonadotropic Hypogonadism 24 Without Anosmia is FSHB (Follicle Stimulating Hormone Subunit Beta), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and GnRH signaling pathway. Affiliated tissues include pituitary, bone and testes, and related phenotypes are delayed skeletal maturation and primary amenorrhea

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:

57
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

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
2 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
3 hypogonadotrophic hypogonadism 59 32 obligate (100%) Obligate (100%) HP:0000044
4 testicular atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000029
5 male hypogonadism 59 32 obligate (100%) Obligate (100%) HP:0000026
6 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
7 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
8 oligospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000798
9 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
10 decreased testosterone in males 59 32 hallmark (90%) Very frequent (99-80%) HP:0008230
11 female hypogonadism 59 32 obligate (100%) Obligate (100%) HP:0000134
12 sparse pubic hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002225
13 sparse axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002215
14 decreased female libido 59 32 frequent (33%) Frequent (79-30%) HP:0030018
15 oligomenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000876
16 gonadotropin deficiency 59 32 obligate (100%) Obligate (100%) HP:0008213
17 abnormal sperm morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012864
18 delayed menarche 59 32 hallmark (90%) Very frequent (99-80%) HP:0012569
19 hyperplasia of the leydig cells 59 32 frequent (33%) Frequent (79-30%) HP:0010791
20 bilateral breast hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0012814
21 delayed puberty 59 Very frequent (99-80%)
22 decreased muscle mass 32 occasional (7.5%) HP:0003199
23 abnormality of metabolism/homeostasis 32 HP:0001939
24 infertility 32 HP:0000789
25 anosmia 59 Excluded (0%)
26 low gonadotropins (secondary hypogonadism) 59 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 29 FSHB

Anatomical Context for Hypogonadotropic Hypogonadism 24 Without Anosmia

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

41
Pituitary, Bone, Testes, Ovary

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:

75
# 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
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 FSHB NM_000510.2(FSHB): c.236_237delTG (p.Val79Glufs) deletion Likely pathogenic rs5030646 GRCh38 Chromosome 11, 30233646: 30233647
2 FSHB NM_000510.2(FSHB): c.236_237delTG (p.Val79Glufs) deletion Likely pathogenic rs5030646 GRCh37 Chromosome 11, 30255193: 30255194
3 FSHB NM_000510.2(FSHB): c.205T> G (p.Cys69Gly) single nucleotide variant Pathogenic rs5030776 GRCh37 Chromosome 11, 30255162: 30255162
4 FSHB NM_000510.2(FSHB): c.205T> G (p.Cys69Gly) single nucleotide variant Pathogenic rs5030776 GRCh38 Chromosome 11, 30233615: 30233615
5 FSHB NM_000510.2(FSHB): c.282C> A (p.Tyr94Ter) single nucleotide variant Pathogenic rs121909666 GRCh37 Chromosome 11, 30255239: 30255239
6 FSHB NM_000510.2(FSHB): c.282C> A (p.Tyr94Ter) single nucleotide variant Pathogenic rs121909666 GRCh38 Chromosome 11, 30233692: 30233692
7 FSHB NM_000510.2(FSHB): c.298T> C (p.Cys100Arg) single nucleotide variant Pathogenic rs5030777 GRCh38 Chromosome 11, 30233708: 30233708
8 FSHB NM_000510.2(FSHB): c.298T> C (p.Cys100Arg) single nucleotide variant Pathogenic rs5030777 GRCh37 Chromosome 11, 30255255: 30255255
9 FSHB NM_001018080.1(FSHB): c.228C> T (p.Tyr76=) single nucleotide variant Likely benign rs6169 GRCh37 Chromosome 11, 30255185: 30255185
10 FSHB NM_001018080.1(FSHB): c.228C> T (p.Tyr76=) single nucleotide variant Likely benign rs6169 GRCh38 Chromosome 11, 30233638: 30233638
11 FSHB NM_000510.2(FSHB): c.-65C> G single nucleotide variant Uncertain significance rs755811230 GRCh37 Chromosome 11, 30252567: 30252567
12 FSHB NM_000510.2(FSHB): c.-65C> G single nucleotide variant Uncertain significance rs755811230 GRCh38 Chromosome 11, 30231020: 30231020
13 FSHB NM_000510.2(FSHB): c.-35T> C single nucleotide variant Uncertain significance rs886048178 GRCh37 Chromosome 11, 30252597: 30252597
14 FSHB NM_000510.2(FSHB): c.-35T> C single nucleotide variant Uncertain significance rs886048178 GRCh38 Chromosome 11, 30231050: 30231050
15 FSHB NM_000510.2(FSHB): c.59G> T (p.Ser20Ile) single nucleotide variant Uncertain significance rs6170 GRCh37 Chromosome 11, 30253508: 30253508
16 FSHB NM_000510.2(FSHB): c.59G> T (p.Ser20Ile) single nucleotide variant Uncertain significance rs6170 GRCh38 Chromosome 11, 30231961: 30231961
17 FSHB NM_000510.2(FSHB): c.*520C> G single nucleotide variant Likely benign rs506306 GRCh38 Chromosome 11, 30234320: 30234320
18 FSHB NM_000510.2(FSHB): c.*520C> G single nucleotide variant Likely benign rs506306 GRCh37 Chromosome 11, 30255867: 30255867
19 FSHB NM_000510.2(FSHB): c.*663G> C single nucleotide variant Uncertain significance rs779622190 GRCh38 Chromosome 11, 30234463: 30234463
20 FSHB NM_000510.2(FSHB): c.*663G> C single nucleotide variant Uncertain significance rs779622190 GRCh37 Chromosome 11, 30256010: 30256010
21 FSHB NM_000510.2(FSHB): c.*476A> G single nucleotide variant Likely benign rs506197 GRCh38 Chromosome 11, 30234276: 30234276
22 FSHB NM_000510.2(FSHB): c.*476A> G single nucleotide variant Likely benign rs506197 GRCh37 Chromosome 11, 30255823: 30255823
23 FSHB NM_000510.2(FSHB): c.*635A> G single nucleotide variant Likely benign rs676349 GRCh37 Chromosome 11, 30255982: 30255982
24 FSHB NM_000510.2(FSHB): c.*635A> G single nucleotide variant Likely benign rs676349 GRCh38 Chromosome 11, 30234435: 30234435
25 FSHB NM_000510.2(FSHB): c.*551G> A single nucleotide variant Uncertain significance rs886048179 GRCh38 Chromosome 11, 30234351: 30234351
26 FSHB NM_000510.2(FSHB): c.*551G> A single nucleotide variant Uncertain significance rs886048179 GRCh37 Chromosome 11, 30255898: 30255898
27 FSHB NM_000510.2(FSHB): c.30C> G (p.Phe10Leu) single nucleotide variant Uncertain significance rs763300762 GRCh37 Chromosome 11, 30253479: 30253479
28 FSHB NM_000510.2(FSHB): c.30C> G (p.Phe10Leu) single nucleotide variant Uncertain significance rs763300762 GRCh38 Chromosome 11, 30231932: 30231932
29 FSHB NM_000510.2(FSHB): c.327C> A (p.Ser109Arg) single nucleotide variant Uncertain significance rs148454792 GRCh38 Chromosome 11, 30233737: 30233737
30 FSHB NM_000510.2(FSHB): c.327C> A (p.Ser109Arg) single nucleotide variant Uncertain significance rs148454792 GRCh37 Chromosome 11, 30255284: 30255284
31 FSHB NM_000510.2(FSHB): c.*212T> C single nucleotide variant Uncertain significance rs879553055 GRCh38 Chromosome 11, 30234012: 30234012
32 FSHB NM_000510.2(FSHB): c.*212T> C single nucleotide variant Uncertain significance rs879553055 GRCh37 Chromosome 11, 30255559: 30255559
33 FSHB NM_000510.2(FSHB): c.*303C> A single nucleotide variant Uncertain significance rs555094841 GRCh38 Chromosome 11, 30234103: 30234103
34 FSHB NM_000510.2(FSHB): c.*303C> A single nucleotide variant Uncertain significance rs555094841 GRCh37 Chromosome 11, 30255650: 30255650
35 FSHB NM_000510.2(FSHB): c.*872C> T single nucleotide variant Uncertain significance rs552570330 GRCh38 Chromosome 11, 30234672: 30234672
36 FSHB NM_000510.2(FSHB): c.*872C> T single nucleotide variant Uncertain significance rs552570330 GRCh37 Chromosome 11, 30256219: 30256219
37 FSHB NM_000510.2(FSHB): c.*898T> C single nucleotide variant Uncertain significance rs143137782 GRCh38 Chromosome 11, 30234698: 30234698
38 FSHB NM_000510.2(FSHB): c.*898T> C single nucleotide variant Uncertain significance rs143137782 GRCh37 Chromosome 11, 30256245: 30256245
39 FSHB NM_000510.2(FSHB): c.*948T> G single nucleotide variant Uncertain significance rs78946483 GRCh38 Chromosome 11, 30234748: 30234748
40 FSHB NM_000510.2(FSHB): c.*948T> G single nucleotide variant Uncertain significance rs78946483 GRCh37 Chromosome 11, 30256295: 30256295
41 FSHB NM_000510.2(FSHB): c.*1009G> A single nucleotide variant Uncertain significance rs75464895 GRCh37 Chromosome 11, 30256356: 30256356
42 FSHB NM_000510.2(FSHB): c.*1009G> A single nucleotide variant Uncertain significance rs75464895 GRCh38 Chromosome 11, 30234809: 30234809
43 FSHB NM_000510.2(FSHB): c.343C> T (p.Arg115Ter) single nucleotide variant Likely pathogenic rs374623109 GRCh37 Chromosome 11, 30255300: 30255300
44 FSHB NM_000510.2(FSHB): c.343C> T (p.Arg115Ter) single nucleotide variant Likely pathogenic rs374623109 GRCh38 Chromosome 11, 30233753: 30233753

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:

37
# 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
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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