MCID: HYP443
MIFTS: 19

Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Categories: Genetic diseases, Endocrine 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 75 29 13 6 73
Hh13 57 75
Hypogonadism, Hypogonadotropic, Type 13 with/without Anosmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypogonadotropic hypogonadism 13 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614842
Disease Ontology 12 DOID:0090073
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 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)

MalaCards based summary : Hypogonadotropic Hypogonadism 13 with or Without Anosmia, is also known as hh13. An important gene associated with Hypogonadotropic Hypogonadism 13 with or Without Anosmia is KISS1 (KiSS-1 Metastasis Suppressor). Affiliated tissues include pituitary, olfactory bulb and uterus, and related phenotypes are hypoplasia of the uterus and hypogonadotrophic hypogonadism

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

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
delayed or absent thelarche

Skeletal:
delayed bone age

Genitourinary Internal Genitalia Female:
hypoplastic uterus
ovaries lacking follicles

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


Clinical features from OMIM:

614842

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

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 hypogonadotrophic hypogonadism 32 HP:0000044
3 anosmia 32 occasional (7.5%) HP:0000458
4 delayed skeletal maturation 32 HP:0002750

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:

41
Pituitary, Olfactory Bulb, Uterus, Ovary, Bone

Publications for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 13 with or Without Anosmia

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

75
# Symbol AA change Variation ID SNP ID
1 KISS1 p.Asn115Lys VAR_069179

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KISS1 NM_002256.3(KISS1): c.339C> G (p.Asn113Lys) single nucleotide variant Pathogenic rs587777835 GRCh38 Chromosome 1, 204190562: 204190562
2 KISS1 NM_002256.3(KISS1): c.339C> G (p.Asn113Lys) single nucleotide variant Pathogenic rs587777835 GRCh37 Chromosome 1, 204159690: 204159690

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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