Fetal Gaucher disease

General Information (adopted from Orphanet):

Synonyms, Signs: Gaucher disease, collodion type
Perinatal lethal Gaucher disease
Number of Symptoms 99
OrphanetNr: 85212
OMIM Id: 608013
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: <= 0.1 of 100 000
Inheritance: Autosomal recessive
3415310 [IBIS]
Age of onset: Antenatal, Neonatal
12838552 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with fatal disease course
 -Rare genetic disease
 -Rare skin disease
Gaucher disease
 -Rare cardiac disease
 -Rare eye disease
 -Rare genetic disease

Comment:

Perinatal lethal Gaucher disease is caused by homozygous or compound heterozygous mutation in the glucocerebrosidase gene (GBA). (OMIM) This form is particularly severe. Death usually occurs in utero or shortly after birth (<3 months). (Orphanet)

Symptom Information: Sort by abundance 

1
 (HPO:0002803) Congenital contracture 3415310; 10756347 IBIS 45 / 7739
2
 (HPO:0000325) Triangular face 10352942 IBIS 91 / 7739
3
 (HPO:0000252) Microcephaly 12838552 IBIS 832 / 7739
4
 (HPO:0000656) Ectropion 10685993 IBIS 25 / 7739
5
 (HPO:0000271) Abnormality of the face 12838552 IBIS 108 / 7739
6
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 12838552; 10685993 IBIS 381 / 7739
7
 (HPO:0001999) Abnormal facial shape Frequent [IBIS] 12838552; 8929950; 10352942; 10685993 IBIS 169 / 7739
8
 (HPO:0000160) Narrow mouth 10352942 IBIS 188 / 7739
9
 (HPO:0000463) Anteverted nares 12838552 IBIS 305 / 7739
10
 (HPO:0000430) Underdeveloped nasal alae 8929950 IBIS 90 / 7739
11
 (HPO:0000457) Depressed nasal ridge 1437405; 8929950 IBIS 85 / 7739
12
 (HPO:0000194) Open mouth 1437405 IBIS 70 / 7739
13
 (HPO:0000520) Proptosis 1437405 IBIS 192 / 7739
14
 (HPO:0003196) Short nose 12838552 IBIS 264 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 10685993 IBIS 308 / 7739
16
 (HPO:0000316) Hypertelorism 12838552 IBIS 644 / 7739
17
 (HPO:0007686) Abnormal pupillary function 10756347 IBIS 3 / 7739
18
 (HPO:0000496) Abnormality of eye movement 10685993 IBIS 79 / 7739
19
 (HPO:0000486) Strabismus 8599361 IBIS 576 / 7739
20
 (HPO:0000377) Abnormality of the pinna Frequent [IBIS] 12838552; 8929950; 10352942; 10685993 IBIS 111 / 7739
21
 (HPO:0000369) Low-set ears 12838552; 10685993 IBIS 372 / 7739
22
 (HPO:0002015) Dysphagia 1437405; 8599361; 10685993 IBIS 301 / 7739
23
 (HPO:0000741) Apathy 3415310 IBIS 42 / 7739
24
 (HPO:0002376) Developmental regression 8599361; 10685993 IBIS 74 / 7739
25
 (HPO:0002375) Hypokinesia 8929950; 10352942 IBIS 25 / 7739
26
 (HPO:0001257) Spasticity 8599361 IBIS 251 / 7739
27
 (HPO:0002179) Opisthotonus 3415310; 8599361 IBIS 35 / 7739
28
 (HPO:0002304) Akinesia 12838552 IBIS 18 / 7739
29
 (HPO:0011181) Low voltage EEG 1437405 IBIS 1 / 7739
30
 (HPO:0001276) Hypertonia Frequent [Orphanet] 1437405 IBIS 317 / 7739
31
 (HPO:0001347) Hyperreflexia 1437405 IBIS 363 / 7739
32
 (HPO:0001250) Seizures Frequent [Orphanet] 3415310 IBIS 1245 / 7739
33
 (HPO:0005684) Distal arthrogryposis 12838552 IBIS 31 / 7739
34
 (HPO:0002514) Cerebral calcification 12838552 IBIS 89 / 7739
35
 (HPO:0001220) Interphalangeal joint contracture of finger 10685993 IBIS 5 / 7739
36
 (HPO:0001371) Flexion contracture 1437405; 10352942 IBIS 220 / 7739
37
 (HPO:0002828) Multiple joint contractures 8929950 IBIS 16 / 7739
38
 (HPO:0012385) Camptodactyly 12838552 IBIS 113 / 7739
39
 (HPO:0005257) Thoracic hypoplasia 10352942 IBIS 79 / 7739
40
 (HPO:0006380) Knee flexion contracture 10685993 IBIS 56 / 7739
41
 (HPO:0001762) Talipes equinovarus 12838552 IBIS 309 / 7739
42
 (HPO:0002804) Arthrogryposis multiplex congenita 12838552; 1437405; 10756347 IBIS 93 / 7739
43
 (HPO:0010557) Overlapping fingers 12838552 IBIS 9 / 7739
44
 (HPO:0001790) Nonimmune hydrops fetalis 12838552 IBIS 15 / 7739
45
 (HPO:0010952) Mild fetal ventriculomegaly 10756347 IBIS 1 / 7739
46
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 8929950; 10352942 IBIS 63 / 7739
47
 (HPO:0001561) Polyhydramnios Frequent [IBIS] 12838552; 3415310; 1437405; 8929950; 10756347 IBIS 191 / 7739
48
 (HPO:0011414) Hydropic placenta 12838552 IBIS 3 / 7739
49
 (HPO:0011427) Enlarged fetal cisterna magna 10756347 IBIS 1 / 7739
50
 (HPO:0001558) Decreased fetal movement 1437405; 10685993 IBIS 74 / 7739
51
 (HPO:0001562) Oligohydramnios 12838552 IBIS 75 / 7739
52
 (HPO:0000952) Jaundice 12838552 IBIS 105 / 7739
53
 (HPO:0002910) Elevated hepatic transaminases 12838552 IBIS 158 / 7739
54
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 10685993 IBIS 467 / 7739
55
 (HPO:0002244) Abnormality of the small intestine 12838552 IBIS 12 / 7739
56
 (HPO:0001433) Hepatosplenomegaly Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 8929950; 10352942; 10685993 IBIS 78 / 7739
57
 (HPO:0001392) Abnormality of the liver 12838552 IBIS 28 / 7739
58
 (HPO:0002605) Hepatic necrosis 12838552 IBIS 6 / 7739
59
 (HPO:0002033) Poor suck 1437405 IBIS 37 / 7739
60
 (HPO:0001511) Intrauterine growth retardation 12838552 IBIS 358 / 7739
61
 (HPO:0000979) Purpura 12838552 IBIS 27 / 7739
62
 (HPO:0005595) Generalized hyperkeratosis 3415310 IBIS 14 / 7739
63
 (HPO:0001072) Thickened skin 1437405 IBIS 87 / 7739
64
 (HPO:0008064) Ichthyosis Very frequent [IBIS] 12838552; 3415310 IBIS 108 / 7739
65
 (HPO:0007549) Desquamation of skin soon after birth 3415310; 8599361 IBIS 2 / 7739
66
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 8929950; 10352942; 10685993; 10756347 IBIS 13 / 7739
67
 (HPO:0001640) Cardiomegaly 12838552 IBIS 81 / 7739
68
 (HPO:0001700) Myocardial necrosis 12838552 IBIS 6 / 7739
69
 (HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 5422102 IBIS 40 / 7739
70
 (HPO:0001873) Thrombocytopenia Frequent [IBIS] 12838552; 3415310; 8929950; 10352942; 10685993 IBIS 224 / 7739
71
 (HPO:0001928) Abnormality of coagulation 12838552 IBIS 44 / 7739
72
 (HPO:0001978) Extramedullary hematopoiesis 12838552 IBIS 6 / 7739
73
 (HPO:0001892) Abnormal bleeding 12838552; 10756347 IBIS 85 / 7739
74
 (HPO:0001903) Anemia 12838552 IBIS 289 / 7739
75
 (HPO:0001942) Metabolic acidosis 10756347 IBIS 81 / 7739
76
 (HPO:0003656) Decreased beta-glucocerebrosidase protein and activity Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 10352942; 10685993; 10756347 IBIS 5 / 7739
77
 (HPO:0002107) Pneumothorax 10756347 IBIS 7 / 7739
78
 (HPO:0001600) Abnormality of the larynx 3415310 IBIS 15 / 7739
79
 (HPO:0002643) Neonatal respiratory distress 12838552 IBIS 22 / 7739
80
 (HPO:0002093) Respiratory insufficiency 10756347 IBIS 410 / 7739
81
 (HPO:0002089) Pulmonary hypoplasia 12838552; 8929950 IBIS 80 / 7739
82
 (HPO:0002882) Sudden episodic apnea 8599361 IBIS 3 / 7739
83
 (HPO:0006543) Cardiorespiratory arrest 8599361 IBIS 11 / 7739
84
 (HPO:0002104) Apnea Frequent [IBIS] 3415310; 1437405; 10685993; 10756347 IBIS 106 / 7739
85
 (HPO:0002202) Pleural effusion 8929950 IBIS 22 / 7739
86
 (HPO:0003202) Skeletal muscle atrophy 8929950 IBIS 281 / 7739
87
 (HPO:0001290) Generalized hypotonia 8599361 IBIS 51 / 7739
88
 (HPO:0001319) Neonatal hypotonia 3415310 IBIS 101 / 7739
89
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 8599361 IBIS 990 / 7739
90
 (HPO:0002446) Astrocytosis 12838552 IBIS 7 / 7739
91
 (MedDRA:10049862) Abnormal clotting factor 12838552 IBIS 1 / 7739
92
 (HPO:0003811) Neonatal death 12838552 IBIS 44 / 7739
93
 (OMIM) Gaucher cells Very frequent [IBIS] 1437405; 8929950; 10352942; 10685993; 10756347 IBIS 2 / 7739
94
 (MedDRA:10023891) Laryngospasm 3415310 IBIS 4 / 7739
95
 (HPO:0100708) Abnormality of the microglia 12838552 IBIS 1 / 7739
96
 (HPO:0002143) Abnormality of the spinal cord 12838552 IBIS 4 / 7739
97
 (HPO:0003826) Stillbirth 12838552; 10352942 IBIS 40 / 7739
98
 (HPO:0002119) Ventriculomegaly 12838552 IBIS 253 / 7739
99
 (OMIM) Hyperextension of the neck 1437405; 10685993 IBIS 2 / 7739

Associated genes:

GBA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GBA rs1064651 pathogenic RCV000004526.5
GBA rs1135675 pathogenic RCV000004536.4
GBA rs121908309 pathogenic RCV000004570.2
GBA rs121908310 pathogenic RCV000004544.2
GBA rs121908313 pathogenic RCV000004577.2
GBA rs397518434 pathogenic RCV000004566.5
GBA rs78198234 pathogenic RCV000004569.2
GBA rs78973108 pathogenic RCV000004573.2
GBA rs79653797 pathogenic RCV000004519.4
GBA rs80356763 pathogenic RCV000004574.2
GBA rs80356768 pathogenic RCV000004555.4

Additional Information:

Description: (OMIM) Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003).
Clinical Description OMIM Drukker et al. (1970) reported a Sephardic-Jewish infant with the infantile form of Gaucher disease. Intracranial hemorrhage led to death at age 48 hours. Owada et al. (1977) described 2 Japanese infants with Gaucher disease. Fractions from the ...
Molecular genetics OMIM Sidransky et al. (1996) described homozygosity for a triply mutant recombinant GBA allele (606463.0009) in 2 conceptuses from an Afghan family with lethal perinatal Gaucher disease. Stone et al. (2000) found that a male infant with perinatal lethal ...