HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: KALLMANN SYNDROME 2
KAL2
HH2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 147950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0000458) Anosmia 49 / 7739
4
(HPO:0000453) Choanal atresia 76 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
8
(OMIM) Neurosensory hearing loss 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 In some cases of hypogonadotropic hypogonadism and anosmia, midline cranial anomalies (cleft lip, cleft palate and imperfect fusion) are present. In a large kindred with a high rate of consanguinity, Rosen (1965) found 5 cases of hypogonadism, 3 ...
Genotype-Phenotype Correlations OMIM In 2 sisters with primary amenorrhea and no breast development at 25 and 18 years of age, respectively, Seminara et al. (2000) identified compound heterozygosity for mutations in the GNRHR gene: Q106R (138850.0001) on one allele and R262Q ...
Molecular genetics OMIM Of 59 Kallmann syndrome patients analyzed by Oliveira et al. (2001), 21 were familial and 38 were sporadic cases. Mutations in the coding sequence of KAL1 (300836) were identified in only 3 familial cases (14%) and 4 of ...