HH2
MCID: HYP548
MIFTS: 37

Hypogonadotropic Hypogonadism 2 with or Without Anosmia (HH2)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 57 12 72 29 13 6
Kallmann Syndrome 2 57 20 72 70
Kal2 57 20 72
Hh2 57 72
Hypogonadism, Hypogonadotropic, Type 2 with/without Anosmia 39
Kallmann Syndrome 2; Kal2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
some patients experience later reversal of hypogonadotropic hypogonadism
phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene

Inheritance:
autosomal dominant


HPO:

31
hypogonadotropic hypogonadism 2 with or without anosmia:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

OMIM® : 57 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder 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. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). (147950) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 2 with or Without Anosmia, also known as kallmann syndrome 2, is related to hypogonadotropic hypogonadism and hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include pituitary, heart and endothelial, and related phenotypes are agenesis of corpus callosum and osteopenia

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 2 with or without anosmia: A disorder 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. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Related Diseases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Diseases in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 10.2
2 hypogonadism 10.2
3 hypogonadotropic hypogonadism 1 with or without anosmia 10.1
4 kallmann syndrome 10.1
5 bacterial infectious disease 10.1
6 cleft palate, isolated 10.0
7 chlorpropamide-alcohol flushing 9.9
8 myeloma, multiple 9.9
9 smith-mccort dysplasia 2 9.9
10 chlamydia 9.9
11 renal hypodysplasia/aplasia 1 9.9
12 cryptorchidism, unilateral or bilateral 9.9
13 branchiootic syndrome 1 9.9
14 sensorineural hearing loss 9.9
15 cleft lip 9.9
16 congenital hypogonadotropic hypogonadism 9.9
17 cleft lip/palate 9.9

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
2 osteopenia 31 occasional (7.5%) HP:0000938
3 iris coloboma 31 occasional (7.5%) HP:0000612
4 reduced number of teeth 31 occasional (7.5%) HP:0009804
5 ectrodactyly 31 occasional (7.5%) HP:0100257
6 clinodactyly 31 occasional (7.5%) HP:0030084
7 intellectual disability 31 HP:0001249
8 sensorineural hearing impairment 31 HP:0000407
9 short stature 31 HP:0004322
10 cleft palate 31 HP:0000175
11 cryptorchidism 31 HP:0000028
12 primary amenorrhea 31 HP:0000786
13 micropenis 31 HP:0000054
14 anosmia 31 HP:0000458
15 cleft upper lip 31 HP:0000204
16 choanal atresia 31 HP:0000453
17 gynecomastia 31 HP:0000771
18 abnormality of cardiovascular system morphology 31 HP:0030680
19 bimanual synkinesia 31 HP:0001335
20 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Female:
primary amenorrhea

Skeletal:
osteopenia (in some patients)

Head And Neck Ears:
hearing loss, unilateral (rare)

Head And Neck Nose:
hyposmia/anosmia (in some patients)
absence of nasal cartilage, unilateral (rare)

Skeletal Hands:
clinodactyly (rare)
fusion of fourth and fifth metacarpal bones (rare)
ectrodactyly (rare)

Neurologic Central Nervous System:
mirror hand movements (bimanual synkinesis, in some patients)
corpus callosum agenesis (rare)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Endocrine Features:
hypogonadotropic hypogonadism
delayed or absent puberty
low to undetectable gonadotropin levels
low testosterone level
low estradiol level

Chest Breasts:
delayed or absent thelarche
gynecomastia (in untreated males)

Head And Neck Eyes:
iris coloboma (rare)

Head And Neck Teeth:
tooth agenesis, variable in number (in some patients)

Skeletal Feet:
ectrodactyly (rare)

Clinical features from OMIM®:

147950 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 29 FGFR1

Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

40
Pituitary, Heart, Endothelial

Publications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 57 6 61
12627230 2003
2
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 57 6
23643382 2013
3
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 6 57
21700882 2011
4
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 57 6
18596921 2008
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6 57
17235395 2007
6
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 57 6
16606836 2006
7
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 6 57
10690855 2000
8
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. 6 57
6881209 1983
9
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. 61 57
18160472 2008
10
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 57 61
15001591 2004
11
Clinical Management of Congenital Hypogonadotropic Hypogonadism. 57
30698671 2019
12
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. 57
29202173 2018
13
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 6
28754744 2017
14
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 6
28008864 2017
15
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 6
27502037 2016
16
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 57
25394172 2015
17
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 6
25251565 2014
18
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. 57
24476074 2014
19
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. 57
25071724 2014
20
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 6
24127277 2013
21
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 6
24497711 2013
22
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 6
24204987 2013
23
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 57
22766261 2012
24
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. 57
21722705 2011
25
A genetic basis for functional hypothalamic amenorrhea. 57
21247312 2011
26
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. 57
20696889 2010
27
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 57
19820032 2009
28
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 57
19567835 2009
29
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 57
18559922 2008
30
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 57
17959774 2007
31
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
32
Impaired FGF signaling contributes to cleft lip and palate. 57
17360555 2007
33
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 6
17200176 2007
34
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 57
17054399 2006
35
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 6
16882753 2006
36
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 6
16957473 2006
37
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 6
16764984 2006
38
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. 57
16500342 2006
39
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 57
16213849 2005
40
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. 57
16061567 2005
41
Testicular anti-mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. 57
15536161 2005
42
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 6
14613973 2004
43
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 6
14564217 2003
44
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. 57
11788640 2002
45
Kallmann syndrome: towards molecular pathogenesis. 57
11420131 2001
46
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 57
11297579 2001
47
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 6
10942429 2000
48
Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case. 57
10925376 2000
49
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 6
10861678 2000
50
Antimüllerian hormone in patients with hypogonadotropic hypogonadism. 57
10443662 1999

Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

6 (show top 50) (show all 233)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023105.3(FGFR1):c.92-1463G>A SNV Pathogenic 16298 rs121909640 GRCh37: 8:38287416-38287416
GRCh38: 8:38429898-38429898
2 FGFR1 NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter) SNV Pathogenic 16293 rs121909636 GRCh37: 8:38272087-38272087
GRCh38: 8:38414569-38414569
3 FGFR1 NM_015850.4(FGFR1):c.2286G>T (p.Gln762His) SNV Pathogenic 16301 rs121909643 GRCh37: 8:38271436-38271436
GRCh38: 8:38413918-38413918
4 FGFR1 NM_015850.4(FGFR1):c.784A>C (p.Asn262His) SNV Pathogenic 132646 rs515726223 GRCh37: 8:38282173-38282173
GRCh38: 8:38424655-38424655
5 FGFR1 NM_023110.2(FGFR1):c.1460G>A (p.Gly487Asp) SNV Pathogenic 132647 rs515726224 GRCh37: 8:38275480-38275480
GRCh38: 8:38417962-38417962
6 FGFR1 NM_015850.4(FGFR1):c.2078C>T (p.Thr693Ile) SNV Pathogenic 132648 rs515726225 GRCh37: 8:38271772-38271772
GRCh38: 8:38414254-38414254
7 FGFR1 NM_023110.2(FGFR1):c.565C>T (p.Arg189Cys) SNV Pathogenic 183685 rs863223331 GRCh37: 8:38285495-38285495
GRCh38: 8:38427977-38427977
8 FGFR1 NM_015850.4(FGFR1):c.1705del (p.Glu569fs) Deletion Pathogenic 397530 rs1060499663 GRCh37: 8:38273531-38273531
GRCh38: 8:38416013-38416013
9 FGFR1 NM_023110.2(FGFR1):c.1430+1G>A SNV Pathogenic 463529 rs1554552774 GRCh37: 8:38275745-38275745
GRCh38: 8:38418227-38418227
10 FGFR1 NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) SNV Pathogenic 502125 rs1554570813 GRCh37: 8:38287344-38287344
GRCh38: 8:38429826-38429826
11 FGFR1 NM_023110.3(FGFR1):c.1512del (p.Lys504fs) Deletion Pathogenic 862263 GRCh37: 8:38275428-38275428
GRCh38: 8:38417910-38417910
12 FGFR1 NC_000008.11:g.(?_38424489)_(38461126_?)del Deletion Pathogenic 832441 GRCh37: 8:38282007-38318644
GRCh38:
13 FGFR1 NM_023110.3(FGFR1):c.1823C>A (p.Ala608Asp) SNV Pathogenic 974811 GRCh37: 8:38273419-38273419
GRCh38: 8:38415901-38415901
14 FGFR1 NM_023110.3(FGFR1):c.1430+1G>T SNV Pathogenic 974812 GRCh37: 8:38275745-38275745
GRCh38: 8:38418227-38418227
15 FGFR1 NM_023110.2(FGFR1):c.1977+1G>A SNV Pathogenic 235087 rs876661334 GRCh37: 8:38272296-38272296
GRCh38: 8:38414778-38414778
16 FGFR1 NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) SNV Pathogenic 16296 rs121909639 GRCh37: 8:38273417-38273417
GRCh38: 8:38415899-38415899
17 FGFR1 NM_015850.4(FGFR1):c.442+1G>A SNV Pathogenic 132645 rs515726222 GRCh37: 8:38285869-38285869
GRCh38: 8:38428351-38428351
18 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) SNV Pathogenic 16279 rs121909627 GRCh37: 8:38282208-38282208
GRCh38: 8:38424690-38424690
19 FGFR1 NM_023110.3(FGFR1):c.1820dup (p.Ala608fs) Duplication Pathogenic 974521 GRCh37: 8:38273421-38273422
GRCh38: 8:38415903-38415904
20 FGFR1 NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) SNV Pathogenic 180160 rs727505376 GRCh37: 8:38271797-38271797
GRCh38: 8:38414279-38414279
21 FGFR1 NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) SNV risk factor 16282 rs121909628 GRCh37: 8:38272410-38272410
GRCh38: 8:38414892-38414892
22 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
23 FGFR1 NM_015850.4(FGFR1):c.2159C>A (p.Pro720His) SNV risk factor 16292 rs267606805 GRCh37: 8:38271691-38271691
GRCh38: 8:38414173-38414173
24 FGFR1 NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro) SNV Likely pathogenic 998009 GRCh37: 8:38271718-38271718
GRCh38: 8:38414200-38414200
25 FGFR1 NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) SNV Likely pathogenic 431966 rs1554570706 GRCh37: 8:38287326-38287326
GRCh38: 8:38429808-38429808
26 FGFR1 NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) SNV Likely pathogenic 431966 rs1554570706 GRCh37: 8:38287326-38287326
GRCh38: 8:38429808-38429808
27 FGFR1 NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del) Deletion Likely pathogenic 692194 rs1586375906 GRCh37: 8:38287269-38287283
GRCh38: 8:38429751-38429765
28 FGFR1 NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu) SNV Likely pathogenic 974813 GRCh37: 8:38279353-38279353
GRCh38: 8:38421835-38421835
29 FGFR1 NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser) SNV Likely pathogenic 974814 GRCh37: 8:38282076-38282076
GRCh38: 8:38424558-38424558
30 FGFR1 NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) SNV Likely pathogenic 974815 GRCh37: 8:38283708-38283708
GRCh38: 8:38426190-38426190
31 FGFR1 NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) SNV Likely pathogenic 974816 GRCh37: 8:38287269-38287269
GRCh38: 8:38429751-38429751
32 FGFR1 NM_023110.3(FGFR1):c.211G>A (p.Val71Met) SNV Likely pathogenic 974817 GRCh37: 8:38287347-38287347
GRCh38: 8:38429829-38429829
33 FGFR1 NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg) SNV Likely pathogenic 974818 GRCh37: 8:38287350-38287350
GRCh38: 8:38429832-38429832
34 FGFR1 NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) SNV Likely pathogenic 949809 GRCh37: 8:38274895-38274895
GRCh38: 8:38417377-38417377
35 FGFR1 NM_023110.2(FGFR1):c.6G>A (p.Trp2Ter) SNV Likely pathogenic 548669 rs1554594114 GRCh37: 8:38314959-38314959
GRCh38: 8:38457441-38457441
36 FGFR1 NM_023110.2(FGFR1):c.625C>T (p.Arg209Cys) SNV Likely pathogenic 548670 rs1554564353 GRCh37: 8:38283760-38283760
GRCh38: 8:38426242-38426242
37 FGFR1 NM_023110.2(FGFR1):c.448+1G>A SNV Likely pathogenic 654366 rs376416531 GRCh37: 8:38285863-38285863
GRCh38: 8:38428345-38428345
38 FGFR1 NM_023110.3(FGFR1):c.2460dup (p.Arg821fs) Duplication Likely pathogenic 691317 rs1586083500 GRCh37: 8:38271154-38271155
GRCh38: 8:38413636-38413637
39 FGFR1 NM_023110.2(FGFR1):c.2059G>C (p.Gly687Arg) SNV Likely pathogenic 435188 rs727505376 GRCh37: 8:38271797-38271797
GRCh38: 8:38414279-38414279
40 FGFR1 NM_015850.4(FGFR1):c.703G>A (p.Gly235Ser) SNV risk factor 16291 rs121909635 GRCh37: 8:38283676-38283676
GRCh38: 8:38426158-38426158
41 FGFR1 NM_001354367.1(FGFR1):c.2286+123G>T SNV risk factor 16302 rs121909644 GRCh37: 8:38271313-38271313
GRCh38: 8:38413795-38413795
42 FGFR1 NM_015850.4(FGFR1):c.743G>A (p.Arg248Gln) SNV risk factor 16303 rs121909645 GRCh37: 8:38282214-38282214
GRCh38: 8:38424696-38424696
43 FGFR1 NM_015850.4(FGFR1):c.1403G>T (p.Arg468Leu) SNV risk factor 16294 rs121909637 GRCh37: 8:38275767-38275767
GRCh38: 8:38418249-38418249
44 FGFR1 NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) SNV Uncertain significance 362905 rs201054877 GRCh37: 8:38285897-38285897
GRCh38: 8:38428379-38428379
45 FGFR1 NM_023110.2(FGFR1):c.*1965G>A SNV Uncertain significance 362861 rs886062907 GRCh37: 8:38269181-38269181
GRCh38: 8:38411663-38411663
46 FGFR1 NM_023110.2(FGFR1):c.2293-11G>A SNV Uncertain significance 362892 rs886062919 GRCh37: 8:38271333-38271333
GRCh38: 8:38413815-38413815
47 FGFR1 NM_023110.2(FGFR1):c.*14G>A SNV Uncertain significance 362890 rs371776128 GRCh37: 8:38271132-38271132
GRCh38: 8:38413614-38413614
48 FGFR1 NM_023110.2(FGFR1):c.*1616T>G SNV Uncertain significance 362865 rs886062908 GRCh37: 8:38269530-38269530
GRCh38: 8:38412012-38412012
49 FGFR1 NM_023110.2(FGFR1):c.*118C>T SNV Uncertain significance 362886 rs886062916 GRCh37: 8:38271028-38271028
GRCh38: 8:38413510-38413510
50 FGFR1 NM_023110.2(FGFR1):c.-270G>A SNV Uncertain significance 362913 rs578030717 GRCh37: 8:38325680-38325680
GRCh38: 8:38468162-38468162

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

72 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Gly97Asp VAR_017885
2 FGFR1 p.Tyr99Cys VAR_017886 rs727505373
3 FGFR1 p.Ala167Ser VAR_017887 rs121909630
4 FGFR1 p.Cys277Tyr VAR_017888
5 FGFR1 p.Val607Met VAR_017889 rs121909629
6 FGFR1 p.Trp666Arg VAR_017890 rs156343390
7 FGFR1 p.Met719Arg VAR_017891
8 FGFR1 p.Gly48Ser VAR_030968 rs121909640
9 FGFR1 p.Arg78Cys VAR_030970 rs155457070
10 FGFR1 p.Cys101Phe VAR_030971
11 FGFR1 p.Val102Ile VAR_030972 rs55642501
12 FGFR1 p.Asp129Ala VAR_030973 rs765615419
13 FGFR1 p.Cys178Ser VAR_030974
14 FGFR1 p.Asp224His VAR_030976
15 FGFR1 p.Gly237Asp VAR_030977
16 FGFR1 p.Gly237Ser VAR_030978 rs121909635
17 FGFR1 p.Leu245Pro VAR_030979
18 FGFR1 p.Arg250Trp VAR_030980
19 FGFR1 p.Arg254Gln VAR_030981
20 FGFR1 p.Gly270Asp VAR_030982
21 FGFR1 p.Val273Met VAR_030983 rs113169192
22 FGFR1 p.Glu274Gly VAR_030984 rs727505369
23 FGFR1 p.Pro283Arg VAR_030985
24 FGFR1 p.Ser332Cys VAR_030988
25 FGFR1 p.Tyr339Cys VAR_030989
26 FGFR1 p.Ala343Val VAR_030990
27 FGFR1 p.Ser346Cys VAR_030991
28 FGFR1 p.Pro366Leu VAR_030992 rs121909641
29 FGFR1 p.Ala520Thr VAR_030995 rs749758370
30 FGFR1 p.Ile538Val VAR_030996
31 FGFR1 p.His621Arg VAR_030997
32 FGFR1 p.Arg622Gly VAR_030998 rs121909628
33 FGFR1 p.Arg622Gln VAR_030999
34 FGFR1 p.Ser685Phe VAR_031000
35 FGFR1 p.Gly687Arg VAR_031001 rs727505376
36 FGFR1 p.Ile693Phe VAR_031002
37 FGFR1 p.Gly703Arg VAR_031003
38 FGFR1 p.Gly703Ser VAR_031004 rs768957161
39 FGFR1 p.Pro722His VAR_031005 rs267606805
40 FGFR1 p.Pro722Ser VAR_031006 rs121909642
41 FGFR1 p.Asn724Lys VAR_031007 rs267606806
42 FGFR1 p.Pro745Ser VAR_031008
43 FGFR1 p.Val795Ile VAR_031010 rs781328162
44 FGFR1 p.Asn117Ser VAR_069288 rs780765366
45 FGFR1 p.Tyr228Asp VAR_069289
46 FGFR1 p.Ile239Thr VAR_069290
47 FGFR1 p.Arg250Gln VAR_069291 rs121909645
48 FGFR1 p.Arg470Leu VAR_069292 rs121909637
49 FGFR1 p.Lys618Asn VAR_069293
50 FGFR1 p.Ala671Pro VAR_069294

Copy number variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 242389 8 7200000 45200000 Microdeletion Kallmann Syndrome 2

Expression for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 2 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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