Juvenile Paget disease

General Information (adopted from Orphanet):

Synonyms, Signs: JUVENILE PAGET DISEASE
OSTEOECTASIA, FAMILIAL
HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC
HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS
HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC
JPG
JPD
Hereditary hyperphosphatasia
Juvenile Paget&#39
s disease
Hyperostosid corticalis deformans juvenilis
Familial osteoectasia
Number of Symptoms 36
OrphanetNr: 2801
OMIM Id: 239000
ICD-10: M88
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003080) Hydroxyprolinuria 7 / 7739
2
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
3
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
4
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
5
 (HPO:0002684) Thickened calvaria 32 / 7739
6
 (HPO:0006480) Premature loss of teeth 23 / 7739
7
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
8
 (HPO:0001102) Angioid streaks of the retina 11 / 7739
9
 (HPO:0000546) Retinal degeneration Occasional [HPO:probinson] 61 / 7739
10
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
11
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
12
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
13
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
14
 (HPO:0000939) Osteoporosis 129 / 7739
15
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
16
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
17
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
18
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
19
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
20
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
21
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
22
 (HPO:0002905) Hyperphosphatemia 18 / 7739
23
 (HPO:0002149) Hyperuricemia Very frequent [Orphanet] 37 / 7739
24
 (HPO:0003260) Hydroxyprolinemia 2 / 7739
25
 (HPO:0003148) Elevated serum acid phosphatase 7 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (OMIM) Islands of increased skull bone density 1 / 7739
28
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
29
 (OMIM) Alkaline phosphatase elevated 1 / 7739
30
 (OMIM) Retinal degeneration in some individuals 1 / 7739
31
 (OMIM) Leucine aminopeptidase elevated 1 / 7739
32
 (OMIM) Increased bone formation and destruction 1 / 7739
33
 (OMIM) Expanded long bones 1 / 7739
34
 (OMIM) Mild involvement of cranial bones 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Progressive skeletal deformity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bakwin and Eiger (1956) and Bakwin et al. (1964) described a familial disorder manifesting itself from early in life by large head and expanded and bowed extremities. Alkaline phosphatase was elevated. The long bones are greatly expanded with ...
Molecular genetics OMIM In 2 patients with juvenile Paget disease, Whyte et al. (2002) identified causative homozygous deletions in the TNFRSF11B gene (602643.0001).

In a consanguineous family of Iraqi origin, Cundy et al. (2002) found that all 3 sibs ...