Lymphangioleiomyomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: LYMPHANGIOMYOMATOSIS
LAM
Number of Symptoms 69
OrphanetNr: 538
OMIM Id: 606690
ICD-10: J98.4
UMLs: C0751674
MeSH: D018192
MedDRA: 10049459
Snomed: 73017001

Prevalence, inheritance and age of onset:

Prevalence: 0.56 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary interstitial lung disease specific to adulthood
 -Rare respiratory disease
Rare genetic respiratory disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
2
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
3
 (HPO:0000113) Polycystic kidney dysplasia Frequent [Orphanet] 75 / 7739
4
 (HPO:0002907) Microscopic hematuria Frequent [Orphanet] 27 / 7739
5
 (HPO:0012086) Abnormal urinary color Occasional [Orphanet] 19 / 7739
6
 (HPO:0000110) Renal dysplasia Frequent [Orphanet] occasional [HPO] 44 / 7739
7
 (HPO:0000008) Abnormality of female internal genitalia Frequent [Orphanet] 3 / 7739
8
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
9
 (HPO:0000003) Multicystic kidney dysplasia Frequent [Orphanet] occasional [HPO] 17 / 7739
10
 (HPO:0000800) Cystic renal dysplasia Frequent [Orphanet] occasional [HPO] 31 / 7739
11
 (HPO:0009720) Adenoma sebaceum Frequent [Orphanet] 12 / 7739
12
 (HPO:0001085) Papilledema Occasional [Orphanet] 31 / 7739
13
 (HPO:0009594) Retinal hamartoma Occasional [Orphanet] 5 / 7739
14
 (HPO:0000648) Optic atrophy Occasional [Orphanet] 238 / 7739
15
 (HPO:0100698) Subcutaneous neurofibromas Frequent [Orphanet] 3 / 7739
16
 (HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
17
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
18
 (HPO:0001263) Global developmental delay Occasional [Orphanet] 853 / 7739
19
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
20
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
21
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
22
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 114 / 7739
23
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
24
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
25
 (HPO:0001270) Motor delay Occasional [Orphanet] 322 / 7739
26
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 1089 / 7739
27
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
28
 (HPO:0002248) Hematemesis Occasional [Orphanet] 12 / 7739
29
 (HPO:0002584) Intestinal bleeding Occasional [Orphanet] occasional [HPO] 16 / 7739
30
 (HPO:0002249) Melena Occasional [Orphanet] 11 / 7739
31
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
32
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
33
 (HPO:0011848) Abdominal colic Frequent [Orphanet] 8 / 7739
34
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
35
 (HPO:0009721) Shagreen patch Occasional [Orphanet] 11 / 7739
36
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
37
 (HPO:0100804) Ungual fibroma Frequent [Orphanet] 2 / 7739
38
 (HPO:0001034) Hypermelanotic macule Occasional [Orphanet] 22 / 7739
39
 (HPO:0011853) Serous pericardial effusion Occasional [Orphanet] 3 / 7739
40
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
41
 (HPO:0001701) Pericarditis Occasional [Orphanet] 13 / 7739
42
 (HPO:0001698) Pericardial effusion Occasional [Orphanet] 20 / 7739
43
 (HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
44
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
45
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
46
 (HPO:0012087) Abnormal mitochondrial shape Occasional [Orphanet] 8 / 7739
47
 (HPO:0002098) Respiratory distress Very frequent [Orphanet] 75 / 7739
48
 (HPO:0011947) Respiratory tract infection Occasional [Orphanet] occasional [HPO] 28 / 7739
49
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
50
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
51
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
52
 (HPO:0006530) Interstitial pulmonary disease Very frequent [Orphanet] 26 / 7739
53
 (HPO:0002094) Dyspnea Very frequent [Orphanet] 132 / 7739
54
 (HPO:0002091) Restrictive ventilatory defect Very frequent [Orphanet] 46 / 7739
55
 (HPO:0002105) Hemoptysis Occasional [Orphanet] 30 / 7739
56
 (HPO:0002097) Emphysema Frequent [Orphanet] 40 / 7739
57
 (HPO:0100750) Atelectasis Frequent [Orphanet] 17 / 7739
58
 (HPO:0010310) Chylothorax Occasional [Orphanet] 6 / 7739
59
 (HPO:0002111) Restrictive deficit on pulmonary function testing Very frequent [Orphanet] hallmark [HPO] 25 / 7739
60
 (HPO:0002102) Pleuritis Occasional [Orphanet] 7 / 7739
61
 (HPO:0002113) Pulmonary infiltrates Very frequent [Orphanet] 36 / 7739
62
 (HPO:0002202) Pleural effusion Occasional [Orphanet] 22 / 7739
63
 (HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
64
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
65
 (HPO:0008940) Generalized lymphadenopathy Frequent [Orphanet] typical [HPO] 14 / 7739
66
 (MedDRA:10025421) Macule Occasional [Orphanet] 55 / 7739
67
 (Orphanet:7000) Anomalies of eyelids, eyelashes and lacrimal system Occasional [Orphanet] 1 / 7739
68
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
69
 ([DEL]MedDRA:10011224) Cough Very frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pulmonary lymphangiomyomatosis, also known as pulmonary lymphangioleiomyomatosis (Urban et al., 1999), is a rare disease that occurs almost exclusively in women. It was first described by Van Stossel (1937). The average age at onset of symptoms, which include ...
Molecular genetics OMIM Renal angiomyolipomas occur in approximately 50% of sporadic LAM patients and in 70% of TSC patients. Loss of heterozygosity (LOH) in the chromosomal region for the TSC2 gene occurs in 60% of TSC-associated angiomyolipomas. Because of the similar ...