Hashimoto-Pritzker syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Congenital Langerhans cell histiocytosis
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Number of Symptoms
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22
|
|
OrphanetNr:
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99872
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OMIM Id:
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|
|
ICD-10:
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C96.5
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UMLs:
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C1275336
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MeSH:
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C535843
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MedDRA:
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Snomed:
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404160007
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Prevalence, inheritance and age of onset:
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Prevalence:
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<
50
cases
[Orphanet]
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Inheritance:
|
|
|
Age of onset:
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Neonatal
Infancy
[Orphanet]
|
Disease classification (adopted from Orphanet):
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Parent Diseases:
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Langerhans cell histiocytosis specific to childhood
-Rare respiratory disease
|
|
|
|
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|
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|
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1
|
(HPO:0011830)
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Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0002167)
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Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
4
|
(HPO:0006824)
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Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
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6
|
(HPO:0011001)
|
Increased bone mineral density |
Occasional [Orphanet]
|
|
|
|
78 / 7739
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7
|
(HPO:0002754)
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Osteomyelitis |
Occasional [Orphanet]
|
|
|
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37 / 7739
|
|
8
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
10
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
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11
|
(HPO:0002240)
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Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
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12
|
(HPO:0001744)
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Splenomegaly |
Occasional [Orphanet]
|
|
|
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337 / 7739
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13
|
(HPO:0001399)
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Hepatic failure |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
14
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
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15
|
(HPO:0001031)
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Subcutaneous lipoma |
Very frequent [Orphanet]
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|
|
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112 / 7739
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16
|
(HPO:0002665)
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Lymphoma |
Occasional [Orphanet]
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|
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60 / 7739
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17
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(HPO:0002488)
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Acute leukemia |
Occasional [Orphanet]
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|
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29 / 7739
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18
|
(HPO:0001876)
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Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
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19
|
(HPO:0100730)
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Bronchogenic cyst |
Frequent [Orphanet]
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|
|
|
5 / 7739
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20
|
(HPO:0002716)
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Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
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21
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
22
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |