Intestinal lymphangiectasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 34 |
| OrphanetNr: | 36204 |
| OMIM Id: |
152800
|
| ICD-10: |
I89.0 |
| UMLs: |
C0024215 |
| MeSH: |
D008201 |
| MedDRA: |
10025213 |
| Snomed: |
197260007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare intestinal disease
-Rare gastroenterologic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0002754) | Osteomyelitis | Occasional [Orphanet] | 37 / 7739 | |||
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(HPO:0006641) | Prominent floating ribs | 2 / 7739 | ||||
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(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
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(HPO:0002593) | Intestinal lymphangiectasia | 6 / 7739 | ||||
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001072) | Thickened skin | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | 89 / 7739 | ||||
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(HPO:0001697) | Abnormality of the pericardium | Occasional [Orphanet] | 52 / 7739 | |||
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(HPO:0001888) | Lymphopenia | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0004313) | Decreased antibody level in blood | 47 / 7739 | ||||
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(HPO:0004315) | IgG deficiency | 38 / 7739 | ||||
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002901) | Hypocalcemia | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0010741) | Edema of the lower limbs | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0008360) | Neonatal hypoproteinemia | 2 / 7739 | ||||
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(HPO:0002103) | Abnormality of the pleura | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0100763) | Abnormality of the lymphatic system | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0100326) | Immunologic hypersensitivity | Frequent [Orphanet] | 28 / 7739 | |||
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(OMIM) | Impaired in vitro blastic transformation ofperipheral blood lymphocytes | 2 / 7739 | ||||
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(OMIM) | Leg ulcers in males | 2 / 7739 | ||||
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(OMIM) | Intestinal protein loss | 2 / 7739 | ||||
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(OMIM) | Dysproteinemia of variable type | 2 / 7739 | ||||
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(OMIM) | Double hair whorl | 2 / 7739 | ||||
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(OMIM) | Impaired allograft rejection | 2 / 7739 | ||||
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(HPO:0003826) | Stillbirth | 40 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Dilated lymphatic spaces and partial villous atrophy of small bowel | 2 / 7739 | ||||
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(OMIM) | Skin anergy | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Homburger and Petermann (1949) described a disorder, which they called 'familial idiopathic dysproteinemia,' characterized by edema of the legs, with ulcers in the males and 'functional vascular changes' in the females; dysproteinemia of variable type, sometimes discernible only ... |