HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
ANOSMIC HYPOGONADISM
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
KALLMANN SYNDROME 1
KAL1
KMS
HHA
HH1
Number of Symptoms 20
OrphanetNr:
OMIM Id: 308700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000029) Testicular atrophy 13 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0000122) Unilateral renal agenesis 24 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000054) Micropenis 257 / 7739
6
(HPO:0000458) Anosmia 49 / 7739
7
(HPO:0000218) High palate 356 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0001335) Bimanual synkinesia 9 / 7739
10
(HPO:0000771) Gynecomastia 53 / 7739
11
(HPO:0003164) Hypothalamic gonadotropin-releasing hormone deficiency 2 / 7739
12
(HPO:0003295) Impaired FSH and LH secretion 2 / 7739
13
(HPO:0002929) Leydig cell insensitivity to gonadotropin 2 / 7739
14
(HPO:0001761) Pes cavus 225 / 7739
15
(HPO:0003782) Eunuchoid habitus 8 / 7739
16
(HPO:0002225) Sparse pubic hair 76 / 7739
17
(HPO:0001417) X-linked inheritance 173 / 7739
18
(HPO:0001341) Olfactory lobe agenesis 5 / 7739
19
(HPO:0030344) Decreased circulating luteinizing hormone level 1 / 7739
20
(HPO:0030341) Decreased circulating follicle stimulating hormone level 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Males with Kallmann syndrome show anosmia due to agenesis of the olfactory lobes, and hypogonadism secondary to deficiency of hypothalamic gonadotropin-releasing hormone (see GNRH1, 152760). Transmitting females have partial or complete anosmia. In the course of molecular genetic ...
Genotype-Phenotype Correlations OMIM Quinton et al. (1996) performed detailed neurologic examinations of Kallmann syndrome subjects for phenotype-genotype correlation. They studied 27 Kallmann syndrome subjects, including 12 males with X-linked disease and 3 females; 6 male and 2 female normosmics with isolated ...
Molecular genetics OMIM In a patient and his brother with Kallmann syndrome, Bick et al. (1992) detected a 3,300-bp deletion in the KAL1 gene (300836.0001).

Hardelin et al. (1993) reported results of a mutation search of the KAL gene ...

Population genetics OMIM Pawlowitzki et al. (1987) attempted to estimate the frequency of the Kallmann syndrome, which they referred to by the acronym HHA for hypogonadotropic hypogonadism and anosmia. Among 791 hypogonadal males, they found 19 persons with HHA. They reported ...