HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 244200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000786) Primary amenorrhea 61 / 7739
3
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000054) Micropenis 257 / 7739
6
(HPO:0000122) Unilateral renal agenesis 24 / 7739
7
(HPO:0000204) Cleft upper lip 193 / 7739
8
(HPO:0000175) Cleft palate 349 / 7739
9
(HPO:0000601) Hypotelorism 83 / 7739
10
(HPO:0000458) Anosmia 49 / 7739
11
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
12
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
13
(HPO:0001763) Pes planus 176 / 7739
14
(HPO:0000767) Pectus excavatum 244 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Midline cranial fusion defect 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 ...
Genotype-Phenotype Correlations OMIM Dode et al. (2006) noted that Kallmann syndrome patients with mutations in PROKR2 or PROK2 had variable degrees of olfactory and reproductive dysfunction and did not seem to have any of the occasional clinical anomalies that had been ...
Molecular genetics OMIM In a study of 192 patients with Kallmann syndrome, Dode et al. (2006) identified 10 and 4 different point mutations in the PROKR2 gene (e.g., 607123.0001-607123.0005) and in one of its ligands, prokineticin-2 (PROK2; 607002), respectively. One of ...