Autosomal dominant hypophosphatemic rickets

General Information (adopted from Orphanet):

Synonyms, Signs: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT
ADHR
Autosomal dominant hypophosphatemia
Number of Symptoms 29
OrphanetNr: 89937
OMIM Id: 193100
ICD-10: E83.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypophosphatemic rickets
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000117) Renal phosphate wasting 14 / 7739
2
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
3
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
4
 (HPO:0003473) Fatigable weakness 39 / 7739
5
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
6
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
7
 (HPO:0004912) Hypophosphatemic rickets 13 / 7739
8
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
9
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
10
 (HPO:0002748) Rickets 41 / 7739
11
 (HPO:0002749) Osteomalacia 24 / 7739
12
 (HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
13
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
14
 (HPO:0001510) Growth delay 295 / 7739
15
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
16
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
17
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
18
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
19
 (HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
20
 (HPO:0012252) Abnormal respiratory system morphology Occasional [Orphanet] 14 / 7739
21
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
22
 (HPO:0003324) Generalized muscle weakness 48 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (HPO:0003829) Incomplete penetrance 85 / 7739
25
 (OMIM) Normocalcemia 1 / 7739
26
 (OMIM) Pseudofractures (adult-onset) 1 / 7739
27
 (MedDRA:10044016) Tooth abscess 1 / 7739
28
 (OMIM) Inappropriately normal serum 1,25-dihydroxyvitamin D3 1 / 7739
29
 (OMIM) Normal serum parathyroid hormone (PTH) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ...
Clinical Description OMIM Harrison et al. (1966) reported a brother and 2 sisters with hypophosphatemia, whose father had hypophosphatemia, severe osteomalacia, and stunting of growth and whose mother was normal (also see Bianchine et al., 1971). Follow-up on the family (Harrison ...
Molecular genetics OMIM In affected members of 4 unrelated families with ADHR, the ADHR Consortium (2000) identified 3 different missense mutations in the FGF23 gene (see, e.g., 605380.0001-605380.0002). Three of the families had been reported by Econs and McEnery (1997), Bianchine ...