HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH4
Number of Symptoms 11
OrphanetNr:
OMIM Id: 610628
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0008734) Decreased testicular size 105 / 7739
6
(HPO:0000458) Anosmia Occasional [HPO:probinson] 49 / 7739
7
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
(HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
9
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
10
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 ...
Molecular genetics OMIM In a study of 192 patients with Kallmann syndrome, Dode et al. (2006) identified 4 and 10 different point mutations in the PROK2 gene (e.g., 607002.0001-607002.0002) and in its receptor, PROKR2 (607123), respectively. All of the mutations in ...