Erdheim-Chester disease

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 40
OrphanetNr: 35687
OMIM Id:
ICD-10: D76.3
UMLs: C0878675
MeSH: D031249
MedDRA: 10060801
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 500 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Granulomatous autoinflammatory syndrome
 -Rare systemic or rheumatologic disease
Non-Langerhans cell histiocytosis
 -Rare skin disease
Systemic non-Langerhans cell histiocytosis
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0011277) Abnormality of the urinary system physiology Frequent [Orphanet] 5 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0000077) Abnormality of the kidney Frequent [Orphanet] 73 / 7739
5
 (HPO:0011037) Decreased urine output Very frequent [Orphanet] 47 / 7739
6
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
7
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
8
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
9
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
10
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
11
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
12
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
13
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
14
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
15
 (HPO:0000873) Diabetes insipidus Very frequent [Orphanet] 34 / 7739
16
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
19
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
20
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
21
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
22
 (HPO:0002754) Osteomyelitis Very frequent [Orphanet] 37 / 7739
23
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
24
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
25
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
26
 (HPO:0000988) Skin rash Occasional [Orphanet] 98 / 7739
27
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
28
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
29
 (HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 55 / 7739
30
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
31
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
32
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
33
 (HPO:0002206) Pulmonary fibrosis Occasional [Orphanet] 51 / 7739
34
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
35
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
36
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
37
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
38
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
39
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
40
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: