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

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

Name: Hypogonadotropic Hypogonadism 1 with or Without Anosmia 52 70 12
Kallmann Syndrome 1 48 70 27 68
Kal1 48 70
Hypogonadotropic Hypogonadism and Anosmia 70
Dysplasia Olfactogenitalis of De Morsier 70
Kallmann Syndrome, Type 1, X-Linked 48
 
Kallmann Syndrome, X-Linked 48
Anosmic Hypogonadism 70
Kallmann Syndrome 68
Hha 70
Hh1 70
Kms 70

Characteristics:

HPO:

64
hypogonadotropic hypogonadism 1 with or without anosmia:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 308700
MedGen37 C1563719
MeSH39 D017436

Summaries for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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OMIM:52 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 has symptoms including anosmia, cryptorchidism and testicular atrophy. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1). Affiliated tissues include pituitary, olfactory bulb and breast.

NIH Rare Diseases:48 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:70 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 & Phenotypes 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:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 testicular atrophy64 HP:0000029
3 hypogonadotrophic hypogonadism64 HP:0000044
4 micropenis64 HP:0000054
5 unilateral renal agenesis64 HP:0000122
6 high palate64 HP:0000218
7 anosmia64 HP:0000458
8 gynecomastia64 HP:0000771
9 ataxia64 HP:0001251
10 bimanual synkinesia64 HP:0001335
11 olfactory lobe agenesis64 HP:0001341
12 pes cavus64 HP:0001761
13 sparse pubic hair64 HP:0002225
14 leydig cell insensitivity to gonadotropin64 HP:0002929
15 hypothalamic gonadotropin-releasing hormone deficiency64 HP:0003164
16 impaired fsh and lh secretion64 HP:0003295
17 eunuchoid habitus64 HP:0003782
18 decreased circulating follicle stimulating hormone level64 HP:0030341
19 decreased circulating luteinizing hormone level64 HP:0030344

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


anosmia

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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 1, Phase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2ImmunoglobulinsPhase 16394
3AntibodiesPhase 16394
4
Lopinavirapproved344192725-17-092727
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
5
Ritonavirapproved, investigational883155213-67-5392622
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
6HIV Protease Inhibitors5470
7Cytochrome P-450 Enzyme Inhibitors3917
8
protease inhibitors5471
Synonyms:
 
protease inhibitors
9Antiviral Agents9967
10Anti-HIV Agents3162
11Cytochrome P-450 CYP3A Inhibitors1715
12Anti-Infective Agents22062
13Anti-Retroviral Agents3296
14Hormones14415

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 or Refractory 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
5A Comparison of CPAP With and Without Humidification: A Pilot StudyCompletedNCT02423681
6Long-term Effectiveness and Safety in Hepatitis-co-infected PatientsCompletedNCT01153269
7Evaluation of Kaletra Therapy Over the Long-termCompletedNCT01083810
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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Genetic tests related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 127

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:

36
Pituitary, Olfactory bulb, Breast, Kidney, Eye

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:

70 (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 19)
id Gene Variation Type Significance SNP ID Assembly Location
1ANOS1KAL1, 3,300-BP DELdeletionPathogenic
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, PRO277FSdeletionPathogenic
6ANOS1KAL1, EX3-5DELdeletionPathogenic
7ANOS1NM_ 000216.3(ANOS1): c.1540G> A (p.Glu514Lys)SNVPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8ANOS1KAL1, EX5DELdeletionPathogenic
9ANOS1KAL1, 11-BP DUP, NT158duplicationPathogenic
10ANOS1NM_ 000216.3(ANOS1): c.784C> T (p.Arg262Ter)SNVPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11ANOS1KAL1, EX3-13 DELdeletionPathogenic
12ANOS1NM_ 000216.3(ANOS1): c.1187C> T (p.Ser396Leu)SNVPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13ANOS1KAL1, EX3-6 DELdeletionPathogenic
14ANOS1NM_ 000216.3(ANOS1): c.1062+1G> TSNVPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
15ANOS1NM_ 000216.3(ANOS1): c.1A> G (p.Met1Val)SNVPathogenicrs606231409GRCh37Chr X, 8700077: 8700077
16ANOS1NM_ 000216.3(ANOS1): c.1904A> C (p.Gln635Pro)SNVLikely pathogenicrs1057519418GRCh37Chr X, 8502440: 8502440
17ANOS1NM_ 000216.3(ANOS1): c.145T> C (p.Cys49Arg)SNVLikely pathogenicrs1057520209GRCh38Chr X, 8731892: 8731892
18ANOS1NM_ 000216.3(ANOS1): c.33_ 34insA (p.Leu12Thrfs)insertionPathogenicrs1057520210GRCh37Chr X, 8700044: 8700045
19ANOS1NM_ 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet