Gaucher disease - ophthalmoplegia - cardiovascular calcification

General Information (adopted from Orphanet):

Synonyms, Signs: Gaucher-like disease
Cardiovascular Gaucher disease
Gaucher disease type 3C
Number of Symptoms 61
OrphanetNr: 2072
OMIM Id: 231005
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance: Autosomal recessive
25755533 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Gaucher disease
 -Rare cardiac disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004406) Spontaneous, recurrent epistaxis 8544197 IBIS 7 / 7739
2
 (HPO:0007759) Opacification of the corneal stroma 11359469 IBIS 77 / 7739
3
 (HPO:0000531) Corneal crystals 6507325 IBIS 9 / 7739
4
 (HPO:0007957) Corneal opacity 25755533; 1333717; 7475546; 8544197 IBIS 84 / 7739
5
 (HPO:0000570) Abnormality of saccadic eye movements 8544197 IBIS 12 / 7739
6
 (HPO:0000657) Oculomotor apraxia 7475546 IBIS 54 / 7739
7
 (HPO:0000602) Ophthalmoplegia Very frequent [IBIS] 8544197; 8544197 IBIS 56 / 7739
8
 (HPO:0000486) Strabismus 8544197 IBIS 576 / 7739
9
 (HPO:0000605) Supranuclear gaze palsy 25755533; 1333717 IBIS 16 / 7739
10
 (HPO:0002875) Exertional dyspnea 6507325; 8544197 IBIS 29 / 7739
11
 (HPO:0002098) Respiratory distress 7475546 IBIS 75 / 7739
12
 (HPO:0004322) Short stature 6507325 IBIS 1232 / 7739
13
 (HPO:0004325) Decreased body weight 6507325 IBIS 492 / 7739
14
 (HPO:0004326) Cachexia 7475546; 11359469 IBIS 71 / 7739
15
 (HPO:0001876) Pancytopenia 7475546; 8544197 IBIS 89 / 7739
16
 (HPO:0006689) Bacterial endocarditis 7475546 IBIS 1 / 7739
17
 (HPO:0001640) Cardiomegaly 6507325; 11359469 IBIS 81 / 7739
18
 (HPO:0001714) Ventricular hypertrophy 6507325 IBIS 20 / 7739
19
 (HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 7475546 IBIS 69 / 7739
20
 (HPO:0001653) Mitral regurgitation 7475546; 11359469 IBIS 64 / 7739
21
 (HPO:0001718) Mitral stenosis 7475546; 8544197 IBIS 10 / 7739
22
 (HPO:0200129) Calcific mitral stenosis 1333717; 7475546 IBIS 2 / 7739
23
 (HPO:0004382) Mitral valve calcification 6507325; 7475546; 8544197; 11359469 IBIS 5 / 7739
24
 (HPO:0001654) Abnormality of the heart valves Very frequent [Orphanet] 1333717 IBIS 49 / 7739
25
 (HPO:0001646) Abnormality of the aortic valve Very frequent [Orphanet] 6507325 IBIS 55 / 7739
26
 (HPO:0004380) Aortic valve calcification 7475546; 8544197; 11359469 IBIS 5 / 7739
27
 (HPO:0001659) Aortic regurgitation 7475546; 8544197 IBIS 36 / 7739
28
 (HPO:0001650) Aortic valve stenosis 7475546; 8544197 IBIS 49 / 7739
29
 (HPO:0005173) Calcific aortic valve stenosis 1333717 IBIS 1 / 7739
30
 (HPO:0005146) Cardiac valve calcification 24588457; 8544197 IBIS 4 / 7739
31
 (MedDRA:10067286) Left atrial dilatation 6507325; 11359469 IBIS 10 / 7739
32
 (HPO:0003115) Abnormal EKG 11359469 IBIS 44 / 7739
33
 (HPO:0003148) Elevated serum acid phosphatase 8544197 IBIS 7 / 7739
34
 (HPO:0003656) Decreased beta-glucocerebrosidase protein and activity Very frequent [IBIS] 25755533; 1333717; 7475546 IBIS 5 / 7739
35
 (HPO:0001276) Hypertonia Frequent [Orphanet] 6507325 IBIS 317 / 7739
36
 (HPO:0001263) Global developmental delay 6507325 IBIS 853 / 7739
37
 (HPO:0001265) Hyporeflexia 8544197 IBIS 208 / 7739
38
 (HPO:0002069) Generalized tonic-clonic seizures 8544197 IBIS 96 / 7739
39
 (HPO:0001780) Abnormality of toe 1333717 IBIS 5 / 7739
40
 (HPO:0001761) Pes cavus 8544197 IBIS 225 / 7739
41
 (HPO:0000248) Brachycephaly 7475546 IBIS 222 / 7739
42
 (HPO:0002240) Hepatomegaly 6507325; 8544197 IBIS 467 / 7739
43
 (HPO:0001433) Hepatosplenomegaly 6507325; 8544197 IBIS 78 / 7739
44
 (HPO:0001744) Splenomegaly Frequent [IBIS] Very frequent [Orphanet] 6507325; 7475546; 8544197; 11359469 IBIS 337 / 7739
45
 (HPO:0000958) Dry skin 6507325 IBIS 152 / 7739
46
 (HPO:0000980) Pallor 7475546; 11359469 IBIS 52 / 7739
47
 (HPO:0004414) Abnormality of the pulmonary artery 6507325 IBIS 50 / 7739
48
 (HPO:0001679) Abnormality of the aorta 11359469 IBIS 5 / 7739
49
 (HPO:0012303) Abnormality of the aortic arch Very frequent [Orphanet] 11359469 IBIS 57 / 7739
50
 (HPO:0004963) Calcification of the aorta 6507325; 8544197; 11359469 IBIS 3 / 7739
51
 (HPO:0005303) Aortic arch calcification 11359469 IBIS 2 / 7739
52
 (HPO:0011915) Cardiovascular calcification Very frequent [IBIS] 25755533; 7475546 IBIS 1 / 7739
53
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 1333717 IBIS 539 / 7739
54
 (HPO:0430021) Abnormality of the common carotid artery 11359469 IBIS 2 / 7739
55
 (HPO:0030148) Heart murmur 6507325 IBIS 29 / 7739
56
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 1333717 IBIS 278 / 7739
57
 (MedDRA:10037833) Rales 7475546; 11359469 IBIS 4 / 7739
58
 (OMIM) Gaucher cells in bone marrow Very frequent [IBIS] 6507325; 1333717; 8544197; 11359469 IBIS 5 / 7739
59
 (OMIM) Intraventricular conduction delay 11359469 IBIS 7 / 7739
60
 (OMIM) Leptomeningeal thickening 1333717 IBIS 2 / 7739
61
 (OMIM) Right axis deviation 11359469 IBIS 6 / 7739

Associated genes:

GBA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GBA rs1064651 pathogenic RCV000004522.5

Additional Information:

Clinical Description OMIM Casta et al. (1984) reported a 15-year-old boy with Gaucher disease associated with calcification of the aortic and mitral valves.

Uyama et al. (1992) described 3 adult Japanese sibs, 2 males and a female, with supranuclear ...
Molecular genetics OMIM In 3 Spanish sisters with Gaucher disease type III associated with cardiovascular calcifications, Chabas et al. (1995) identified a homozygous asp409-to-his mutation (D409H; 606463.0006) in the GBA gene.

In the 3 Japanese sibs reported by Uyama ...