Primary intestinal lymphangiectasia

General Information (adopted from Orphanet):

Synonyms, Signs: Waldmann disease
Number of Symptoms 39
OrphanetNr: 90362
OMIM Id: 152800
ICD-10: I89.0
UMLs: C0267372
C2931241
MeSH: C536567
MedDRA:
Snomed: 6124009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic intestinal disease
 -Rare genetic disease
Intestinal lymphangiectasia
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000045) Abnormality of the scrotum Occasional [Orphanet] 14 / 7739
2
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
3
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
4
 (HPO:0006641) Prominent floating ribs 2 / 7739
5
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
6
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
7
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
8
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
9
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
10
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
11
 (HPO:0002593) Intestinal lymphangiectasia 6 / 7739
12
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
13
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
14
 (HPO:0001072) Thickened skin Occasional [Orphanet] 87 / 7739
15
 (HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
16
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
17
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
18
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
19
 (HPO:0001891) Iron deficiency anemia Occasional [Orphanet] 22 / 7739
20
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
21
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
22
 (HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
23
 (HPO:0002901) Hypocalcemia Occasional [Orphanet] 56 / 7739
24
 (HPO:0010741) Edema of the lower limbs Very frequent [Orphanet] 34 / 7739
25
 (HPO:0003075) Hypoproteinemia Very frequent [Orphanet] 27 / 7739
26
 (HPO:0008360) Neonatal hypoproteinemia 2 / 7739
27
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
28
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
29
 (HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
30
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
31
 (OMIM) Impaired allograft rejection 2 / 7739
32
 (OMIM) Dysproteinemia of variable type 2 / 7739
33
 (OMIM) Impaired in vitro blastic transformation ofperipheral blood lymphocytes 2 / 7739
34
 (OMIM) Skin anergy 2 / 7739
35
 (OMIM) Double hair whorl 2 / 7739
36
 (OMIM) Dilated lymphatic spaces and partial villous atrophy of small bowel 2 / 7739
37
 (HPO:0012740) Papilloma Occasional [Orphanet] 17 / 7739
38
 (OMIM) Intestinal protein loss 2 / 7739
39
 (OMIM) Leg ulcers in males 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 ...