HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 612089
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000117) Renal phosphate wasting 14 / 7739
2
(HPO:0002007) Frontal bossing 366 / 7739
3
(HPO:0000256) Macrocephaly 298 / 7739
4
(HPO:0000843) Hyperparathyroidism 17 / 7739
5
(HPO:0008208) Parathyroid hyperplasia 3 / 7739
6
(HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
7
(HPO:0004912) Hypophosphatemic rickets 13 / 7739
8
(HPO:0002748) Rickets 41 / 7739
9
(HPO:0000897) Rachitic rosary 5 / 7739
10
(HPO:0002653) Bone pain 75 / 7739
11
(HPO:0004322) Short stature 1232 / 7739
12
(HPO:0003072) Hypercalcemia 36 / 7739
13
(HPO:0002148) Hypophosphatemia 43 / 7739
14
(HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
15
(OMIM) Dysplasia of nasal bones with midface protrusion 1 / 7739
16
(OMIM) Translocation of chromosomes 9 and 13 1 / 7739
17
(OMIM) Parathyroid hyperplasia, benign 1 / 7739
18
(OMIM) Arnold-Chiari I malformation 1 / 7739
19
(OMIM) Bowing of lower extremities 2 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brownstein et al. (2008) described a 23-year-old woman with hypophosphatemic rickets and hyperparathyroidism who presented at 13 months of age with a prominent forehead, large open anterior fontanel, knobby wrists, moderately bowed legs with refusal to stand, and ...