MCID: HYP513
MIFTS: 33

Hypogonadotropic Hypogonadism 1 with or Without Anosmia malady

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

Name: Hypogonadotropic Hypogonadism 1 with or Without Anosmia 49 11 67
Kallmann Syndrome 1 45 67 24 65
Kal1 45 67
Hypogonadotropic Hypogonadism and Anosmia 67
Dysplasia Olfactogenitalis of De Morsier 67
Kallmann Syndrome, Type 1, X-Linked 45
 
Kallmann Syndrome, X-Linked 45
Anosmic Hypogonadism 67
Kallmann Syndrome 65
Hha 67
Kms 67
Hh1 67

Characteristics:

HPO:

61
hypogonadotropic hypogonadism 1 with or without anosmia:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 308700
MedGen34 C1563719
MeSH36 D017436
UMLS65 C1563719

Summaries for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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OMIM:49 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 kallmann syndrome, and has symptoms including decreased circulating luteinizing hormone level, decreased circulating follicle stimulating hormone level and eunuchoid habitus. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1). Affiliated tissues include pituitary, eye and kidney.

NIH Rare Diseases:45 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:67 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

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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 for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Symptoms by clinical synopsis from OMIM:

308700

Clinical features from OMIM:

308700

HPO human phenotypes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

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

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 1, Phase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2ImmunoglobulinsPhase 14477
3Immunologic FactorsPhase 118483
4AntibodiesPhase 14477
5Antirheumatic AgentsPhase 18496
6
Lopinavirapproved342192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
Aluviran
C12871
C37H48N4O5
 
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Kaletra
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
SID124893167
SID144205757
SID50111692
UNII-2494G1JF75
a-157378-0
a-157378.0
7
Ritonavirapproved, investigational850155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
8HIV Protease Inhibitors4558
9Protease Inhibitors4558
10Antiviral Agents8071
11Anti-Infective Agents17220
12Cytochrome P-450 Enzyme Inhibitors3036
13Anti-Retroviral Agents2794
14Cytochrome P-450 CYP3A Inhibitors1421
15Hormones11748

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. ErythrocytoapheresisCompletedNCT00440986Phase 2, Phase 3
2A Phase I/II Study of Betalutin for Treatment of Relapsed Non-Hodgkin LymphomaRecruitingNCT01796171Phase 1, Phase 2
3Dosimetry Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma (LYMRIT-37-02)Not yet recruitingNCT02657447Phase 1
4Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma (LYMRIT-37-05)Not yet recruitingNCT02658968Phase 1
5Long-term Effectiveness and Safety in Hepatitis-co-infected PatientsCompletedNCT01153269
6Evaluation of Kaletra Therapy Over the Long-termCompletedNCT01083810
7A Comparison of CPAP With and Without Humidification: A Pilot StudyRecruitingNCT02423681
8Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
9Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency DisordersTerminatedNCT01165619

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Genetic Tests for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Anatomical Context for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

33
Pituitary, Eye, Kidney, Breast, Olfactory bulb

Animal Models for Hypogonadotropic Hypogonadism 1 with or Without Anosmia or affiliated genes

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Publications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1ANOS1p.Asn267LysVAR_007720
2ANOS1p.Glu514LysVAR_012742rs28937309
3ANOS1p.Cys163TyrVAR_031012
4ANOS1p.Cys172ArgVAR_031013
5ANOS1p.Arg262ProVAR_031014
6ANOS1p.Asn304SerVAR_031015
7ANOS1p.Ser396LeuVAR_031016rs137852517
8ANOS1p.Phe517LeuVAR_031017
9ANOS1p.Trp571ArgVAR_031018
10ANOS1p.Cys134GlyVAR_065362
11ANOS1p.Cys163ArgVAR_065363
12ANOS1p.Glu539LysVAR_065364
13ANOS1p.Val587LeuVAR_069968rs137900287
14ANOS1p.His672ArgVAR_072992

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1ANOS1KAL1, 3,300-BP DELdeletionPathogenic
2ANOS1NM_000216.3(ANOS1): c.711G> A (p.Trp237Ter)single nucleotide variantPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
3ANOS1NM_000216.3(ANOS1): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
4ANOS1NM_000216.3(ANOS1): c.774G> A (p.Trp258Ter)single nucleotide variantPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
5ANOS1KAL1, 1-BP DEL, PRO277FSdeletionPathogenic
6ANOS1KAL1, EX3-5DELdeletionPathogenic
7ANOS1NM_000216.3(ANOS1): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8ANOS1KAL1, EX5DELdeletionPathogenic
9ANOS1KAL1, 11-BP DUP, NT158duplicationPathogenic
10ANOS1NM_000216.3(ANOS1): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11ANOS1KAL1, EX3-13 DELdeletionPathogenic
12ANOS1NM_000216.3(ANOS1): c.1187C> T (p.Ser396Leu)single nucleotide variantPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13ANOS1KAL1, EX3-6 DELdeletionPathogenic
14ANOS1NM_000216.3(ANOS1): c.1062+1G> Tsingle nucleotide variantPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
15ANOS1NM_000216.3(ANOS1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs606231409GRCh37Chr X, 8700077: 8700077
16ANOS1NM_000216.3(ANOS1): c.1449+2delTdeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703

Expression for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

Pathways for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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GO Terms for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Sources for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet