HH13
MCID: HYP443
MIFTS: 25

Hypogonadotropic Hypogonadism 13 with or Without Anosmia (HH13)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 13 with or Without Anosmia 57 12 72 29 13 6 70
Hh13 57 72
Hypogonadism, Hypogonadotropic, Type 13 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)


HPO:

31
hypogonadotropic hypogonadism 13 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090073
OMIM® 57 614842
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3541462

Summaries for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

OMIM® : 57 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).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. (614842) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 13 with or Without Anosmia, also known as hh13, is related to hypogonadotropic hypogonadism 18 with or without anosmia. An important gene associated with Hypogonadotropic Hypogonadism 13 with or Without Anosmia is KISS1 (KiSS-1 Metastasis Suppressor). Affiliated tissues include pituitary, uterus and bone, and related phenotypes are anosmia and delayed skeletal maturation

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the KISS1 gene on chromosome 1q32.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 13 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 13 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 13 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 18 with or without anosmia 10.0

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

31
# Description HPO Frequency HPO Source Accession
1 anosmia 31 occasional (7.5%) HP:0000458
2 delayed skeletal maturation 31 HP:0002750
3 hypoplasia of the uterus 31 HP:0000013
4 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
delayed bone age

Chest Breasts:
delayed or absent thelarche

Genitourinary Internal Genitalia Female:
hypoplastic uterus
ovaries lacking follicles

Endocrine Features:
delayed or absent puberty
low estradiol
low serum gonadotropins
normal anterior pituitary function

Clinical features from OMIM®:

614842 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 29 KISS1

Anatomical Context for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

40
Pituitary, Uterus, Bone, Brain

Publications for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

(show all 18)
# Title Authors PMID Year
1
Inactivating KISS1 mutation and hypogonadotropic hypogonadism. 57 6
22335740 2012
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
A survey of jaagsiekte sheep retrovirus (JSRV) infection in sheep in the three northeastern provinces of China. 61
33486631 2021
4
Induction of DNA damage, apoptosis and cell cycle perturbation mediate cytotoxic activity of new 5-aminosalicylate-4-thiazolinone hybrid derivatives. 61
32861966 2020
5
Cardiac injections of AntagomiRs as a novel tool for knockdown of miRNAs during heart development. 61
30496744 2019
6
The expression dynamics of mechanosensitive genes in extra-embryonic vasculature after heart starts to beat in chick embryo. 61
26889656 2016
7
Blood flow through the embryonic heart outflow tract during cardiac looping in HH13-HH18 chicken embryos. 61
26468069 2015
8
Transgenic chimera quail production by microinjecting lentiviral vector into the blood vessel of the early embryo. 61
22515688 2012
9
Transgenic quail production by microinjection of lentiviral vector into the early embryo blood vessels. 61
23251391 2012
10
Dynamic expression of Endoglin, a TGF-beta co-receptor, during pre-circulation vascular development in chick. 61
20209444 2010
11
Highly restricted BMP10 expression in the trabeculating myocardium of the chick embryo. 61
14722768 2004
12
Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. 61
12618134 2003
13
The myth of ventrally emigrating neural tube (VENT) cells and their contribution to the developing cardiovascular system. 61
12649731 2003
14
The pattern of neurovascular development in the forelimb of the quail embryo. 61
12221008 2002
15
The dorsoventral polarity of the presumptive limb is determined by signals produced by the somites and by the lateral somatopleure. 61
9108362 1997
16
Initial tract formation in the brain of the chick embryo: selective expression of the BEN/SC1/DM-GRASP cell adhesion molecule. 61
7757257 1995
17
Shaping, invagination, and closure of the chick embryo otic vesicle: scanning electron microscopic and quantitative study. 61
2260786 1990
18
Patterning of chick brain vesicles as revealed by peanut agglutinin and cholinesterases. 61
1698141 1990

Variations for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KISS1 NM_002256.4(KISS1):c.339C>G (p.Asn113Lys) SNV Pathogenic 30349 rs587777835 GRCh37: 1:204159690-204159690
GRCh38: 1:204190562-204190562
2 KISS1 NM_002256.4(KISS1):c.268C>G (p.His90Asp) SNV Likely benign 501504 rs201073751 GRCh37: 1:204159761-204159761
GRCh38: 1:204190633-204190633

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 13 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 KISS1 p.Asn115Lys VAR_069179

Expression for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 13 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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