HH2
MCID: HYP548
MIFTS: 37

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 56 12 73 29 13 6
Kallmann Syndrome 2 56 52 73 71
Kal2 56 52 73
Hh2 56 73
Hypogonadism, Hypogonadotropic, Type 2 with/without Anosmia 39
Kallmann Syndrome 2; Kal2 56

Characteristics:

OMIM:

56
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 : 56 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 osteopenia and iris coloboma

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 : 73 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 11)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 10.4
2 hypogonadism 10.4
3 kallmann syndrome 10.4
4 smith-mccort dysplasia 2 10.3
5 cleft palate, isolated 10.3
6 renal hypodysplasia/aplasia 1 10.1
7 hypogonadotropic hypogonadism 1 with or without anosmia 10.1
8 branchiootic syndrome 1 10.1
9 sensorineural hearing loss 10.1
10 cleft lip 10.1
11 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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 iris coloboma 31 occasional (7.5%) HP:0000612
3 reduced number of teeth 31 occasional (7.5%) HP:0009804
4 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
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:

56
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 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, 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 72)
# Title Authors PMID Year
1
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 61 6 56
12627230 2003
2
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 6 56
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 56
21700882 2011
4
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 56 6
18596921 2008
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6 56
17235395 2007
6
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 56 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 56
10690855 2000
8
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. 56 6
6881209 1983
9
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. 56 61
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. 56 61
15001591 2004
11
Clinical Management of Congenital Hypogonadotropic Hypogonadism. 56
30698671 2019
12
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 56
25394172 2015
13
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. 56
24476074 2014
14
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. 56
25071724 2014
15
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 56
22766261 2012
16
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. 56
21722705 2011
17
A genetic basis for functional hypothalamic amenorrhea. 56
21247312 2011
18
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. 56
20696889 2010
19
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 56
19820032 2009
20
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 56
19567835 2009
21
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 56
18559922 2008
22
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 56
17959774 2007
23
Reversal of idiopathic hypogonadotropic hypogonadism. 56
17761590 2007
24
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007
25
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 6
17200176 2007
26
Impaired FGF signaling contributes to cleft lip and palate. 56
17360555 2007
27
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 56
17054399 2006
28
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 6
16882753 2006
29
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. 56
16500342 2006
30
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 56
16213849 2005
31
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. 56
16061567 2005
32
Testicular anti-mullerian hormone secretion is stimulated by recombinant human FSH in patients with congenital hypogonadotropic hypogonadism. 56
15536161 2005
33
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. 56
11788640 2002
34
Kallmann syndrome: towards molecular pathogenesis. 56
11420131 2001
35
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 56
11297579 2001
36
Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case. 56
10925376 2000
37
Antimüllerian hormone in patients with hypogonadotropic hypogonadism. 56
10443662 1999
38
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. 56
9589647 1998
39
Congenital heart disease associated with sporadic Kallmann syndrome. 56
8322819 1993
40
Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. 56
8462198 1993
41
Chromosome abnormality in Kallmann syndrome. 56
2309777 1990
42
Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance. 56
2111748 1990
43
Kallmann syndrome associated with choanal atresia. 56
3594930 1987
44
Hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) associated with a marker chromosome. 56
3104265 1987
45
Diagnosis of Kallmann's syndrome in early infancy. 56
6984277 1982
46
Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases. 56
6812419 1982
47
Lack of close linkage of hypogonadotropic hypogonadism with HLA. 56
7444936 1980
48
Female Kallmann's syndrome: evidence for a hypothalamic luteinizing hormone-releasing hormone deficiency. 56
6985875 1980
49
Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome. 56
335879 1977
50
Familial Kallmann syndrome with unilateral renal aplasia. 56
1080088 1975

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 188) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR1 NM_015850.4(FGFR1):c.1705del (p.Glu569fs)deletion Pathogenic 397530 rs1060499663 8:38273531-38273531 8:38416013-38416013
2 FGFR1 NM_023110.2(FGFR1):c.1430+1G>ASNV Pathogenic 463529 rs1554552774 8:38275745-38275745 8:38418227-38418227
3 FGFR1 NC_000008.11:g.(?_38424489)_(38461126_?)deldeletion Pathogenic 832441 8:38282007-38318644
4 FGFR1 NM_023110.3(FGFR1):c.1512del (p.Lys504fs)deletion Pathogenic 862263 8:38275428-38275428 8:38417910-38417910
5 FGFR1 NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg)SNV Pathogenic 16279 rs121909627 8:38282208-38282208 8:38424690-38424690
6 FGFR1 NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter)SNV Pathogenic 16296 rs121909639 8:38273417-38273417 8:38415899-38415899
7 FGFR1 NM_023105.3(FGFR1):c.92-1463G>ASNV Pathogenic 16298 rs121909640 8:38287416-38287416 8:38429898-38429898
8 FGFR1 NM_015850.4(FGFR1):c.784A>C (p.Asn262His)SNV Pathogenic 132646 rs515726223 8:38282173-38282173 8:38424655-38424655
9 FGFR1 NM_023110.2(FGFR1):c.1460G>A (p.Gly487Asp)SNV Pathogenic 132647 rs515726224 8:38275480-38275480 8:38417962-38417962
10 FGFR1 NM_015850.4(FGFR1):c.2078C>T (p.Thr693Ile)SNV Pathogenic 132648 rs515726225 8:38271772-38271772 8:38414254-38414254
11 FGFR1 NM_023110.2(FGFR1):c.565C>T (p.Arg189Cys)SNV Pathogenic 183685 rs863223331 8:38285495-38285495 8:38427977-38427977
12 FGFR1 NM_015850.4(FGFR1):c.2286G>T (p.Gln762His)SNV Pathogenic 16301 rs121909643 8:38271436-38271436 8:38413918-38413918
13 FGFR1 NM_023110.2(FGFR1):c.1977+1G>ASNV Pathogenic 235087 rs876661334 8:38272296-38272296 8:38414778-38414778
14 FGFR1 NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter)SNV Pathogenic/Likely pathogenic 16282 rs121909628 8:38272410-38272410 8:38414892-38414892
15 FGFR1 NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter)SNV Pathogenic/Likely pathogenic 502125 rs1554570813 8:38287344-38287344 8:38429826-38429826
16 FGFR1 NM_023110.2(FGFR1):c.625C>T (p.Arg209Cys)SNV Likely pathogenic 548670 rs1554564353 8:38283760-38283760 8:38426242-38426242
17 FGFR1 NM_023110.2(FGFR1):c.6G>A (p.Trp2Ter)SNV Likely pathogenic 548669 rs1554594114 8:38314959-38314959 8:38457441-38457441
18 FGFR1 NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del)deletion Likely pathogenic 692194 8:38287269-38287283 8:38429751-38429765
19 FGFR1 NM_023110.2(FGFR1):c.2059G>C (p.Gly687Arg)SNV Likely pathogenic 435188 rs727505376 8:38271797-38271797 8:38414279-38414279
20 FGFR1 NM_023110.2(FGFR1):c.448+1G>ASNV Likely pathogenic 654366 8:38285863-38285863 8:38428345-38428345
21 FGFR1 NM_023110.3(FGFR1):c.2460dup (p.Arg821fs)duplication Likely pathogenic 691317 8:38271154-38271155 8:38413636-38413637
22 FGFR1 NM_015850.4(FGFR1):c.703G>A (p.Gly235Ser)SNV risk factor 16291 rs121909635 8:38283676-38283676 8:38426158-38426158
23 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu)SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
24 FGFR1 NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter)SNV Likely pathogenic 16293 rs121909636 8:38272087-38272087 8:38414569-38414569
25 FGFR1 NM_015850.4(FGFR1):c.1403G>T (p.Arg468Leu)SNV risk factor 16294 rs121909637 8:38275767-38275767 8:38418249-38418249
26 FGFR1 NM_001354367.1(FGFR1):c.2286+123G>TSNV risk factor 16302 rs121909644 8:38271313-38271313 8:38413795-38413795
27 FGFR1 NM_015850.4(FGFR1):c.743G>A (p.Arg248Gln)SNV risk factor 16303 rs121909645 8:38282214-38282214 8:38424696-38424696
28 FGFR1 NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu)SNV Conflicting interpretations of pathogenicity 362905 rs201054877 8:38285897-38285897 8:38428379-38428379
29 FGFR1 NM_023110.2(FGFR1):c.75G>A (p.Pro25=)SNV Conflicting interpretations of pathogenicity 362911 rs17175757 8:38314890-38314890 8:38457372-38457372
30 FGFR1 NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile)SNV Conflicting interpretations of pathogenicity 362896 rs200776757 8:38275808-38275808 8:38418290-38418290
31 FGFR1 NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr)SNV Conflicting interpretations of pathogenicity 362898 rs747978107 8:38282176-38282176 8:38424658-38424658
32 FGFR1 NM_023110.2(FGFR1):c.549C>T (p.Thr183=)SNV Conflicting interpretations of pathogenicity 362902 rs886062920 8:38285511-38285511 8:38427993-38427993
33 FGFR1 NM_023110.2(FGFR1):c.449-7C>TSNV Conflicting interpretations of pathogenicity 362903 rs754454127 8:38285618-38285618 8:38428100-38428100
34 FGFR1 NM_023110.2(FGFR1):c.*494A>GSNV Conflicting interpretations of pathogenicity 362883 rs562843836 8:38270652-38270652 8:38413134-38413134
35 FGFR1 NM_023110.2(FGFR1):c.359-4A>GSNV Conflicting interpretations of pathogenicity 362907 rs185233212 8:38285957-38285957 8:38428439-38428439
36 FGFR1 NM_023110.2(FGFR1):c.273C>T (p.Ser91=)SNV Conflicting interpretations of pathogenicity 362909 rs201823433 8:38287285-38287285 8:38429767-38429767
37 FGFR1 NM_023110.2(FGFR1):c.-853G>CSNV Conflicting interpretations of pathogenicity 362921 rs553799602 8:38326263-38326263 8:38468745-38468745
38 FGFR1 NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)SNV Conflicting interpretations of pathogenicity 910181 8:38314897-38314897 8:38457379-38457379
39 FGFR1 NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)SNV Conflicting interpretations of pathogenicity 909875 8:38271216-38271216 8:38413698-38413698
40 FGFR1 NM_023110.2(FGFR1):c.168G>A (p.Arg56=)SNV Conflicting interpretations of pathogenicity 585866 rs147482922 8:38287390-38287390 8:38429872-38429872
41 FGFR1 NM_023110.3(FGFR1):c.1869C>T (p.Asp623=)SNV Conflicting interpretations of pathogenicity 698394 8:38272405-38272405 8:38414887-38414887
42 FGFR1 NM_023110.3(FGFR1):c.1431-5G>ASNV Conflicting interpretations of pathogenicity 700452 8:38275514-38275514 8:38417996-38417996
43 FGFR1 NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys)SNV Conflicting interpretations of pathogenicity 431966 rs1554570706 8:38287326-38287326 8:38429808-38429808
44 FGFR1 NM_023110.3(FGFR1):c.*1982A>CSNV Conflicting interpretations of pathogenicity 908569 8:38269164-38269164 8:38411646-38411646
45 FGFR1 NM_023110.2(FGFR1):c.*2391A>GSNV Conflicting interpretations of pathogenicity 362856 rs185729862 8:38268755-38268755 8:38411237-38411237
46 FGFR1 NM_023110.2(FGFR1):c.*2057C>TSNV Conflicting interpretations of pathogenicity 362860 rs556829066 8:38269089-38269089 8:38411571-38411571
47 FGFR1 NM_023110.2(FGFR1):c.*1026T>CSNV Conflicting interpretations of pathogenicity 362874 rs542417198 8:38270120-38270120 8:38412602-38412602
48 FGFR1 NM_023110.2(FGFR1):c.*906A>TSNV Conflicting interpretations of pathogenicity 362878 rs139347382 8:38270240-38270240 8:38412722-38412722
49 FGFR1 NM_023110.2(FGFR1):c.663G>T (p.Val221=)SNV Conflicting interpretations of pathogenicity 362900 rs766451294 8:38283722-38283722 8:38426204-38426204
50 FGFR1 NM_023110.2(FGFR1):c.*14G>ASNV Conflicting interpretations of pathogenicity 362890 rs371776128 8:38271132-38271132 8:38413614-38413614

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

73 (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 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....