HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 241100
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:0000054) Micropenis 257 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0000026) Male hypogonadism 20 / 7739
4
(HPO:0000771) Gynecomastia 53 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Normal-sized testes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form ...
Clinical Description OMIM Ferriman (1954) described a possibly distinct form in 2 sons of first-cousin parents. First-degree hypospadias, small penis, gynecomastia, markedly diminished secondary sexual characteristics, and normal-sized testes were described. In all respects except the parental consanguinity suggesting recessive inheritance, ...