HH2
MCID: HYP548
MIFTS: 36

Hypogonadotropic Hypogonadism 2 with or Without Anosmia (HH2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste 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 74 13
Kallmann Syndrome 2 57 53 74 29 6 72
Kal2 57 53 74
Hh2 57 74
Hypogonadism, Hypogonadotropic, Type 2 with/without Anosmia 40
Kallmann Syndrome 2; Kal2 57

Characteristics:

OMIM:

57
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:

32
hypogonadotropic hypogonadism 2 with or without anosmia:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090083
MeSH 44 D017436
ICD10 33 E23.0
UMLS 72 C1563720

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)

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, olfactory bulb and bone, and related phenotypes are agenesis of corpus callosum and clinodactyly

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 : 74 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 12)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 10.4
2 hypogonadism 10.4
3 kallmann syndrome 10.4
4 hypogonadotropism 10.4
5 smith-mccort dysplasia 2 10.3
6 cleft palate, isolated 10.3
7 renal hypodysplasia/aplasia 1 10.1
8 hypogonadotropic hypogonadism 1 with or without anosmia 10.1
9 branchiootic syndrome 1 10.1
10 sensorineural hearing loss 10.1
11 cleft lip 10.1
12 cleft lip/palate 10.1

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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
2 clinodactyly 32 occasional (7.5%) HP:0030084
3 osteopenia 32 occasional (7.5%) HP:0000938
4 iris coloboma 32 occasional (7.5%) HP:0000612
5 reduced number of teeth 32 occasional (7.5%) HP:0009804
6 ectrodactyly 32 occasional (7.5%) HP:0100257
7 intellectual disability 32 HP:0001249
8 sensorineural hearing impairment 32 HP:0000407
9 short stature 32 HP:0004322
10 cleft palate 32 HP:0000175
11 cryptorchidism 32 HP:0000028
12 primary amenorrhea 32 HP:0000786
13 hypogonadotrophic hypogonadism 32 HP:0000044
14 micropenis 32 HP:0000054
15 anosmia 32 HP:0000458
16 cleft upper lip 32 HP:0000204
17 choanal atresia 32 HP:0000453
18 gynecomastia 32 HP:0000771
19 abnormality of cardiovascular system morphology 32 HP:0030680
20 bimanual synkinesia 32 HP:0001335

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Female:
primary amenorrhea

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 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

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

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

Skeletal:
osteopenia (in some patients)

Skeletal Feet:
ectrodactyly (rare)

Clinical features from OMIM:

147950

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 Kallmann Syndrome 2 29 FGFR1

Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

41
Pituitary, Olfactory Bulb, Bone, 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 70)
# Title Authors PMID Year
1
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 38 8 71
12627230 2003
2
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 8 71
23643382 2013
3
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 8 71
21700882 2011
4
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 8 71
18596921 2008
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 8 71
17235395 2007
6
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 8 71
16606836 2006
7
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 8 71
10690855 2000
8
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. 8 71
6881209 1983
9
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. 38 8
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. 38 8
15001591 2004
11
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 8
25394172 2015
12
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. 8
25071724 2014
13
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 8
22766261 2012
14
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. 8
21722705 2011
15
A genetic basis for functional hypothalamic amenorrhea. 8
21247312 2011
16
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. 8
20696889 2010
17
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 8
19820032 2009
18
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 8
19567835 2009
19
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 8
18559922 2008
20
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 8
17959774 2007
21
Reversal of idiopathic hypogonadotropic hypogonadism. 8
17761590 2007
22
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 71
20301509 2007
23
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 71
17200176 2007
24
Impaired FGF signaling contributes to cleft lip and palate. 8
17360555 2007
25
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 8
17054399 2006
26
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 71
16882753 2006
27
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. 8
16500342 2006
28
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 8
16213849 2005
29
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. 8
16061567 2005
30
Testicular anti-mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. 8
15536161 2005
31
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. 8
11788640 2002
32
Kallmann syndrome: towards molecular pathogenesis. 8
11420131 2001
33
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 8
11297579 2001
34
Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case. 8
10925376 2000
35
Antimüllerian hormone in patients with hypogonadotropic hypogonadism. 8
10443662 1999
36
Recombinant human luteinizing hormone (LH) to support recombinant human follicle-stimulating hormone (FSH)-induced follicular development in LH- and FSH-deficient anovulatory women: a dose-finding study. The European Recombinant Human LH Study Group. 8
9589647 1998
37
Congenital heart disease associated with sporadic Kallmann syndrome. 8
8322819 1993
38
Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. 8
8462198 1993
39
Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance. 8
2111748 1990
40
Chromosome abnormality in Kallmann syndrome. 8
2309777 1990
41
Kallmann syndrome associated with choanal atresia. 8
3594930 1987
42
Hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) associated with a marker chromosome. 8
3104265 1987
43
Diagnosis of Kallmann's syndrome in early infancy. 8
6984277 1982
44
Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases. 8
6812419 1982
45
Lack of close linkage of hypogonadotropic hypogonadism with HLA. 8
7444936 1980
46
Female Kallmann's syndrome: evidence for a hypothalamic luteinizing hormone-releasing hormone deficiency. 8
6985875 1980
47
Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome. 8
335879 1977
48
Familial Kallmann syndrome with unilateral renal aplasia. 8
1080088 1975
49
Cryptorchidism in a family with Kallmann's syndrome. 8
4150739 1974
50
Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. 8
4404632 1973

Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

6 (show all 48)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR1 NM_023110.2(FGFR1): c.1711del (p.Glu571fs) deletion Pathogenic rs1060499663 8:38273531-38273531 8:38416013-38416013
2 FGFR1 NM_023110.2(FGFR1): c.1430+1G> A single nucleotide variant Pathogenic rs1554552774 8:38275745-38275745 8:38418227-38418227
3 FGFR1 NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg) single nucleotide variant Pathogenic rs121909627 8:38282208-38282208 8:38424690-38424690
4 FGFR1 NM_023110.2(FGFR1): c.1825C> T (p.Arg609Ter) single nucleotide variant Pathogenic rs121909639 8:38273417-38273417 8:38415899-38415899
5 FGFR1 NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser) single nucleotide variant Pathogenic rs121909640 8:38287416-38287416 8:38429898-38429898
6 FGFR1 NM_023110.2(FGFR1): c.790A> C (p.Asn264His) single nucleotide variant Pathogenic rs515726223 8:38282173-38282173 8:38424655-38424655
7 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 8:38275480-38275480 8:38417962-38417962
8 FGFR1 NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile) single nucleotide variant Pathogenic rs515726225 8:38271772-38271772 8:38414254-38414254
9 FGFR1 NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs863223331 8:38285495-38285495 8:38427977-38427977
10 FGFR1 NM_023110.2(FGFR1): c.2292G> T (p.Gln764His) single nucleotide variant Pathogenic rs121909643 8:38271436-38271436 8:38413918-38413918
11 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909628 8:38272410-38272410 8:38414892-38414892
12 FGFR1 NM_023110.2(FGFR1): c.214C> T (p.Gln72Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554570813 8:38287344-38287344 8:38429826-38429826
13 FGFR1 NM_023110.2(FGFR1): c.625C> T (p.Arg209Cys) single nucleotide variant Likely pathogenic rs1554564353 8:38283760-38283760 8:38426242-38426242
14 FGFR1 NM_023110.2(FGFR1): c.6G> A (p.Trp2Ter) single nucleotide variant Likely pathogenic rs1554594114 8:38314959-38314959 8:38457441-38457441
15 FGFR1 NM_023110.2(FGFR1): c.2059G> C (p.Gly687Arg) single nucleotide variant Likely pathogenic rs727505376 8:38271797-38271797 8:38414279-38414279
16 FGFR1 NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser) single nucleotide variant risk factor rs121909635 8:38283676-38283676 8:38426158-38426158
17 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 8:38277238-38277238 8:38419720-38419720
18 FGFR1 NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter) single nucleotide variant Likely pathogenic rs121909636 8:38272087-38272087 8:38414569-38414569
19 FGFR1 NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu) single nucleotide variant risk factor rs121909637 8:38275767-38275767 8:38418249-38418249
20 FGFR1 NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr) single nucleotide variant risk factor rs121909644 8:38271313-38271313 8:38413795-38413795
21 FGFR1 NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln) single nucleotide variant risk factor rs121909645 8:38282214-38282214 8:38424696-38424696
22 FGFR1 NM_023110.2(FGFR1): c.448+1G> A single nucleotide variant Likely pathogenic 8:38285863-38285863 8:38428345-38428345
23 FGFR1 NM_023110.2(FGFR1): c.1368G> T (p.Met456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200776757 8:38275808-38275808 8:38418290-38418290
24 FGFR1 NM_023110.2(FGFR1): c.232C> T (p.Arg78Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1554570706 8:38287326-38287326 8:38429808-38429808
25 FGFR1 NM_023110.2(FGFR1): c.160C> T (p.Arg54Cys) single nucleotide variant Uncertain significance rs778531708 8:38287398-38287398 8:38429880-38429880
26 FGFR1 NM_023110.2(FGFR1): c.2206T> C (p.Cys736Arg) single nucleotide variant Uncertain significance rs1554546677 8:38271522-38271522 8:38414004-38414004
27 FGFR1 NM_023110.2(FGFR1): c.1343G> A (p.Arg448Gln) single nucleotide variant Uncertain significance rs758138124 8:38275833-38275833 8:38418315-38418315
28 FGFR1 NM_023110.2(FGFR1): c.2292+3A> G single nucleotide variant Uncertain significance rs747737281 8:38271433-38271433 8:38413915-38413915
29 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 8:38282064-38282064 8:38424546-38424546
30 FGFR1 NM_023110.2(FGFR1): c.1540A> C (p.Lys514Gln) single nucleotide variant Uncertain significance 8:38275400-38275400 8:38417882-38417882
31 FGFR1 NM_023110.2(FGFR1): c.1064G> C (p.Trp355Ser) single nucleotide variant Uncertain significance 8:38279332-38279332 8:38421814-38421814
32 FGFR1 NM_023110.2(FGFR1): c.350A> G (p.Asn117Ser) single nucleotide variant Uncertain significance 8:38287208-38287208 8:38429690-38429690
33 FGFR1 NM_023110.2(FGFR1): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs515726222 8:38285869-38285869 8:38428351-38428351
34 FGFR1 NM_023110.2(FGFR1): c.2186+8C> T single nucleotide variant Likely benign rs372639138 8:38271662-38271662 8:38414144-38414144
35 FGFR1 NM_023110.2(FGFR1): c.1285-8C> A single nucleotide variant Likely benign rs1235765985 8:38275899-38275899 8:38418381-38418381
36 FGFR1 NM_023110.2(FGFR1): c.2464C> T (p.Arg822Cys) single nucleotide variant Likely benign rs17182463 8:38271151-38271151 8:38413633-38413633
37 FGFR1 NM_023110.2(FGFR1): c.2106C> T (p.Pro702=) single nucleotide variant Likely benign rs777061347 8:38271750-38271750 8:38414232-38414232
38 FGFR1 NM_023110.2(FGFR1): c.471C> G (p.Ser157=) single nucleotide variant Likely benign rs376497452 8:38285589-38285589 8:38428071-38428071
39 FGFR1 NM_023110.2(FGFR1): c.1888C> T (p.Leu630=) single nucleotide variant Benign/Likely benign rs746123129 8:38272386-38272386 8:38414868-38414868
40 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 8:38271547-38271547 8:38414029-38414029
41 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 8:38271301-38271301 8:38413783-38413783
42 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 8:38287238-38287238 8:38429720-38429720
43 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 8:38287213-38287213 8:38429695-38429695
44 FGFR1 NM_023110.2(FGFR1): c.600C> T (p.Asp200=) single nucleotide variant Benign/Likely benign rs17175898 8:38285460-38285460 8:38427942-38427942
45 FGFR1 NM_023110.2(FGFR1): c.2262G> A (p.Leu754=) single nucleotide variant Benign/Likely benign rs56341011 8:38271466-38271466 8:38413948-38413948
46 FGFR1 NM_023110.2(FGFR1): c.304G> A (p.Val102Ile) single nucleotide variant Benign rs55642501 8:38287254-38287254 8:38429736-38429736
47 FGFR1 NM_023110.2(FGFR1): c.2165C> A (p.Pro722His) single nucleotide variant no interpretation for the single variant rs267606805 8:38271691-38271691 8:38414173-38414173
48 FGFR1 NM_023110.2(FGFR1): c.2172C> G (p.Asn724Lys) single nucleotide variant no interpretation for the single variant rs267606806 8:38271684-38271684 8:38414166-38414166

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

74 (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
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 Chromosom 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
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