ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: RUDS, INCLUDED
Number of Symptoms 16
OrphanetNr:
OMIM Id: 308200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000026) Male hypogonadism 20 / 7739
3
 (HPO:0000458) Anosmia 49 / 7739
4
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0007178) Motor polyneuropathy 31 / 7739
8
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
9
 (HPO:0009830) Peripheral neuropathy 206 / 7739
10
 (HPO:0008213) Gonadotropin deficiency 6 / 7739
11
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
12
 (HPO:0004857) Hyperchromic macrocytic anemia 1 / 7739
13
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
14
 (OMIM) Low pituitary gonadotropic hormones 1 / 7739
15
 (HPO:0001417) X-linked inheritance 173 / 7739
16
 (MedDRA:10059594) Secondary hypogonadism 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: