MCID: HYP513
MIFTS: 37

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 51 69 12
Kallmann Syndrome 1 47 69 26 67
Kal1 47 69
Hypogonadotropic Hypogonadism and Anosmia 69
Dysplasia Olfactogenitalis of De Morsier 69
Kallmann Syndrome, Type 1, X-Linked 47
 
Kallmann Syndrome, X-Linked 47
Anosmic Hypogonadism 69
Kallmann Syndrome 67
Kms 69
Hha 69
Hh1 69

Characteristics:

HPO:

63
hypogonadotropic hypogonadism 1 with or without anosmia:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM51 308700
MedGen36 C1563719
MeSH38 D017436

Summaries for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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OMIM:51 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 cryptorchidism, testicular atrophy and hypogonadotrophic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1). Affiliated tissues include pituitary, olfactory bulb and kidney.

NIH Rare Diseases:47 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:69 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

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

 63 (show all 19)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 HP:0000028
2 testicular atrophy63 HP:0000029
3 hypogonadotrophic hypogonadism63 HP:0000044
4 micropenis63 HP:0000054
5 unilateral renal agenesis63 HP:0000122
6 high palate63 HP:0000218
7 anosmia63 HP:0000458
8 gynecomastia63 HP:0000771
9 ataxia63 HP:0001251
10 bimanual synkinesia63 HP:0001335
11 olfactory lobe agenesis63 HP:0001341
12 pes cavus63 HP:0001761
13 sparse pubic hair63 HP:0002225
14 leydig cell insensitivity to gonadotropin63 HP:0002929
15 hypothalamic gonadotropin-releasing hormone deficiency63 HP:0003164
16 impaired fsh and lh secretion63 HP:0003295
17 eunuchoid habitus63 HP:0003782
18 decreased circulating follicle stimulating hormone level63 HP:0030341
19 decreased circulating luteinizing hormone level63 HP:0030344

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


anosmia, sense of smell impaired

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 21654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2ImmunoglobulinsPhase 16045
3AntibodiesPhase 16045
4Antirheumatic AgentsPhase 110627
5
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
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
UNII-2494G1JF75
6
Ritonavirapproved, investigational870155213-67-5392622
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
7HIV Protease Inhibitors5319
8Cytochrome P-450 Enzyme Inhibitors3822
9
protease inhibitors5320
Synonyms:
 
protease inhibitors
10Antiviral Agents9732
11Anti-HIV Agents3100
12Cytochrome P-450 CYP3A Inhibitors1666
13Anti-Infective Agents21402
14Anti-Retroviral Agents3232
15Hormones13979

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
3Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma (LYMRIT-37-05)RecruitingNCT02658968Phase 1
4Dosimetry Study of Betalutin for Treatment of Relapsed Non-Hodgkin Lymphoma (LYMRIT-37-02)Not yet recruitingNCT02657447Phase 1
5Long-term Effectiveness and Safety in Hepatitis-co-infected PatientsCompletedNCT01153269
6Evaluation of Kaletra Therapy Over the Long-termCompletedNCT01083810
7Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
8A Comparison of CPAP With and Without Humidification: A Pilot StudyActive, not recruitingNCT02423681
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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Genetic tests related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 126

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:

35
Pituitary, Olfactory bulb, Kidney, Eye

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:

69 (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_031015rs140812865
7ANOS1p.Ser396LeuVAR_031016rs137852517
8ANOS1p.Phe517LeuVAR_031017
9ANOS1p.Trp571ArgVAR_031018
10ANOS1p.Cys134GlyVAR_065362
11ANOS1p.Cys163ArgVAR_065363
12ANOS1p.Glu539LysVAR_065364rs144586521
13ANOS1p.Val587LeuVAR_069968rs137900287
14ANOS1p.His672ArgVAR_072992rs199771303

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 DELdeletionPathogenicChr na, -1: -1
2ANOS1NM_000216.3(ANOS1): c.711G> A (p.Trp237Ter)SNVPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
3ANOS1NM_000216.3(ANOS1): c.769C> T (p.Arg257Ter)SNVPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
4ANOS1NM_000216.3(ANOS1): c.774G> A (p.Trp258Ter)SNVPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
5ANOS1KAL1, 1-BP DEL, PRO277FSdeletionPathogenicChr na, -1: -1
6ANOS1KAL1, EX3-5DELdeletionPathogenicChr na, -1: -1
7ANOS1NM_000216.3(ANOS1): c.1540G> A (p.Glu514Lys)SNVPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8ANOS1KAL1, EX5DELdeletionPathogenicChr na, -1: -1
9ANOS1KAL1, 11-BP DUP, NT158duplicationPathogenicChr na, -1: -1
10ANOS1NM_000216.3(ANOS1): c.784C> T (p.Arg262Ter)SNVPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11ANOS1KAL1, EX3-13 DELdeletionPathogenicChr na, -1: -1
12ANOS1NM_000216.3(ANOS1): c.1187C> T (p.Ser396Leu)SNVPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13ANOS1KAL1, EX3-6 DELdeletionPathogenicChr na, -1: -1
14ANOS1NM_000216.3(ANOS1): c.1062+1G> TSNVPathogenicrs387906427GRCh38Chr X, 8570498: 8570498
15ANOS1NM_000216.3(ANOS1): c.1A> G (p.Met1Val)SNVPathogenicrs606231409GRCh37Chr X, 8700077: 8700077
16ANOS1NM_000216.3(ANOS1): c.1449+2delTdeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1257179X19500000MicrodeletionKallmann Syndrome 1

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet