Adrenomyodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 977
OMIM Id: 300270
ICD-10:
UMLs: C1846044
MeSH: C538051
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
2
 (HPO:0000119) Abnormality of the genitourinary system 34 / 7739
3
 (HPO:0000485) Megalocornea Very frequent [Orphanet] 26 / 7739
4
 (HPO:0011344) Severe global developmental delay 46 / 7739
5
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
6
 (HPO:0008291) Pituitary corticotropic cell adenoma 1 / 7739
7
 (HPO:0000834) Abnormality of the adrenal glands Very frequent [Orphanet] 14 / 7739
8
 (HPO:0008207) Primary adrenal insufficiency 26 / 7739
9
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
10
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
11
 (HPO:0001080) Biliary tract abnormality Frequent [Orphanet] 26 / 7739
12
 (HPO:0001397) Hepatic steatosis 75 / 7739
13
 (HPO:0002250) Abnormality of the large intestine Very frequent [Orphanet] 32 / 7739
14
 (HPO:0012450) Chronic constipation 10 / 7739
15
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
16
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
17
 (HPO:0000953) Hyperpigmentation of the skin Frequent [Orphanet] 75 / 7739
18
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
19
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
20
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
21
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
 (OMIM) Dystrophic myopathy 1 / 7739
23
 (OMIM) Terminal massive bladder ectasia 1 / 7739
24
 (OMIM) ACTH-producing pituitary microadenomas 1 / 7739
25
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: