HH1
MCID: HYP513
MIFTS: 36

Hypogonadotropic Hypogonadism 1 with or Without Anosmia (HH1) malady

Categories: Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Aliases & Descriptions for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 1 with or Without Anosmia 54 66 13
Kallmann Syndrome 1 50 66 29 69
Kal1 50 66
Hypogonadotropic Hypogonadism and Anosmia 66
Dysplasia Olfactogenitalis of De Morsier 66
Kallmann Syndrome, Type 1, X-Linked 50
Kallmann Syndrome, X-Linked 50
Anosmic Hypogonadism 66
Kallmann Syndrome 69
Kms 66
Hha 66
Hh1 66

Characteristics:

HPO:

32
hypogonadotropic hypogonadism 1 with or without anosmia:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 308700
MedGen 40 C1563719
MeSH 42 D017436

Summaries for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

OMIM : 54 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual... (308700) more...

MalaCards based summary : Hypogonadotropic Hypogonadism 1 with or Without Anosmia, also known as kallmann syndrome 1, is related to kabuki syndrome 1 and hypogonadotropic hypogonadism 2 with or without anosmia, and has symptoms including ataxia, anosmia and high palate. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1). The drugs rituximab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include pituitary, eye and kidney.

NIH Rare Diseases : 50 kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. this disorder is a form of hypogonadotropic hypogonadism. affected males are usually born with a small penis and undescended testicles. affected females usually do not begin menstruating at puberty and have little or no breast development. kallmann syndrome 1 is the most common type of kallmann syndrome (there are four types identified at this time). it is caused by mutations in the kal1 gene and is inherited in an x-linked recessive fashion.   last updated: 12/22/2011

UniProtKB/Swiss-Prot : 66 Hypogonadotropic hypogonadism 1 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 1 with or Without Anosmia

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Symptoms by clinical synopsis from OMIM:

308700

Clinical features from OMIM:

308700

Human phenotypes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 anosmia 32 HP:0000458
3 high palate 32 HP:0000218
4 cryptorchidism 32 HP:0000028
5 pes cavus 32 HP:0001761
6 hypogonadotrophic hypogonadism 32 HP:0000044
7 testicular atrophy 32 HP:0000029
8 gynecomastia 32 HP:0000771
9 micropenis 32 HP:0000054
10 unilateral renal agenesis 32 HP:0000122
11 sparse pubic hair 32 HP:0002225
12 eunuchoid habitus 32 HP:0003782
13 bimanual synkinesia 32 HP:0001335
14 olfactory lobe agenesis 32 HP:0001341
15 leydig cell insensitivity to gonadotropin 32 HP:0002929
16 hypothalamic gonadotropin-releasing hormone deficiency 32 HP:0003164
17 impaired fsh and lh secretion 32 HP:0003295
18 decreased circulating follicle stimulating hormone level 32 HP:0030341
19 decreased circulating luteinizing hormone level 32 HP:0030344

UMLS symptoms related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:


anosmia

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Drugs for Hypogonadotropic Hypogonadism 1 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
2 Immunoglobulins Phase 1
3 Antibodies Phase 1
4
Ritonavir Approved, Investigational 155213-67-5 392622
5
Lopinavir Approved 192725-17-0 92727
6
protease inhibitors
7 HIV Protease Inhibitors
8 Cytochrome P-450 CYP3A Inhibitors
9 Cytochrome P-450 Enzyme Inhibitors
10 Anti-HIV Agents
11 Anti-Infective Agents
12 Anti-Retroviral Agents
13 Antiviral Agents
14 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
2 A Phase I/II Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma Recruiting NCT01796171 Phase 1, Phase 2
3 Study of Betalutin for Treatment of Relapsed or Refractory Non-Hodgkin Lymphoma (LYMRIT-37-05) Recruiting NCT02658968 Phase 1
4 Dosimetry Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma (LYMRIT-37-02) Not yet recruiting NCT02657447 Phase 1
5 A Comparison of CPAP With and Without Humidification: A Pilot Study Completed NCT02423681
6 Long-term Effectiveness and Safety in Hepatitis-co-infected Patients Completed NCT01153269
7 Evaluation of Kaletra Therapy Over the Long-term Completed NCT01083810
8 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
9 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders Terminated NCT01165619

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 1 29

Anatomical Context for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

39
Pituitary, Eye, Kidney, Breast, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 ANOS1 p.Asn267Lys VAR_007720
2 ANOS1 p.Glu514Lys VAR_012742 rs28937309
3 ANOS1 p.Cys163Tyr VAR_031012
4 ANOS1 p.Cys172Arg VAR_031013
5 ANOS1 p.Arg262Pro VAR_031014
6 ANOS1 p.Asn304Ser VAR_031015 rs140812865
7 ANOS1 p.Ser396Leu VAR_031016 rs137852517
8 ANOS1 p.Phe517Leu VAR_031017
9 ANOS1 p.Trp571Arg VAR_031018
10 ANOS1 p.Cys134Gly VAR_065362
11 ANOS1 p.Cys163Arg VAR_065363
12 ANOS1 p.Glu539Lys VAR_065364 rs144586521
13 ANOS1 p.Val587Leu VAR_069968 rs137900287
14 ANOS1 p.His672Arg VAR_072992 rs199771303

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 ANOS1 KAL1, 3,300-BP DEL deletion Pathogenic
2 ANOS1 NM_000216.3(ANOS1): c.711G> A (p.Trp237Ter) single nucleotide variant Pathogenic rs137852512 GRCh37 Chromosome X, 8555850: 8555850
3 ANOS1 NM_000216.3(ANOS1): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs137852513 GRCh37 Chromosome X, 8553395: 8553395
4 ANOS1 NM_000216.3(ANOS1): c.774G> A (p.Trp258Ter) single nucleotide variant Pathogenic rs137852514 GRCh37 Chromosome X, 8553390: 8553390
5 ANOS1 KAL1, 1-BP DEL, PRO277FS deletion Pathogenic
6 ANOS1 KAL1, EX3-5DEL deletion Pathogenic
7 ANOS1 NM_000216.3(ANOS1): c.1540G> A (p.Glu514Lys) single nucleotide variant Pathogenic rs137852515 GRCh37 Chromosome X, 8504893: 8504893
8 ANOS1 KAL1, EX5DEL deletion Pathogenic
9 ANOS1 KAL1, 11-BP DUP, NT158 duplication Pathogenic
10 ANOS1 NM_000216.3(ANOS1): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs137852516 GRCh37 Chromosome X, 8553380: 8553380
11 ANOS1 KAL1, EX3-13 DEL deletion Pathogenic
12 ANOS1 NM_000216.3(ANOS1): c.1187C> T (p.Ser396Leu) single nucleotide variant Pathogenic rs137852517 GRCh37 Chromosome X, 8536293: 8536293
13 ANOS1 KAL1, EX3-6 DEL deletion Pathogenic
14 ANOS1 NM_000216.3(ANOS1): c.1062+1G> T single nucleotide variant Pathogenic rs387906427 GRCh37 Chromosome X, 8538539: 8538539
15 ANOS1 NM_000216.3(ANOS1): c.1449+2delT deletion Pathogenic rs397518425 GRCh37 Chromosome X, 8507703: 8507703
16 ANOS1 NM_000216.3(ANOS1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs606231409 GRCh37 Chromosome X, 8700077: 8700077
17 ANOS1 NM_000216.3(ANOS1): c.1904A> C (p.Gln635Pro) single nucleotide variant Likely pathogenic rs1057519418 GRCh37 Chromosome X, 8502440: 8502440
18 ANOS1 NM_000216.3(ANOS1): c.145T> C (p.Cys49Arg) single nucleotide variant Likely pathogenic rs1057520209 GRCh38 Chromosome X, 8731892: 8731892
19 ANOS1 NM_000216.3(ANOS1): c.33_34insA (p.Leu12Thrfs) insertion Pathogenic rs1057520210 GRCh37 Chromosome X, 8700044: 8700045

Copy number variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257179 X 1 9500000 Microdeletion Kallmann Syndrome 1

Expression for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 1 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....