MCID: HYP260
MIFTS: 43

Hypophosphatemic Rickets, Autosomal Dominant

Categories: Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

MalaCards integrated aliases for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 54 24 71 13 52
Autosomal Dominant Hypophosphatemic Rickets 12 56 29 14
Autosomal Dominant Hypophosphatemia 56 71
Adhr 56 71
Autosomal Dominant Vitamin D-Resistant Rickets 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant hypophosphatemic rickets
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
rarely, patients with childhood-onset may lose the renal phosphate-wasting defect
treatment with vitamin d and phosphate is effective
similar phenotype to x-linked hypophosphatemia (xlh, )


HPO:

32
hypophosphatemic rickets, autosomal dominant:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 193100
Disease Ontology 12 DOID:0050948
Orphanet 56 ORPHA89937
UMLS via Orphanet 70 C0342642 C1704375
ICD10 via Orphanet 34 E83.3
MedGen 40 C0342642
MeSH 42 D012279

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

OMIM : 54
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), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic bone disease (146350). (193100)

MalaCards based summary : Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to tumoral calcinosis, hyperphosphatemic, familial and jacobsen syndrome, and has symptoms including short stature, fatigue and muscle weakness. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways is Signaling by activated point mutants of FGFR3. The drugs Iron and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart, and related phenotypes are digestive/alimentary and limbs/digits/tail

UniProtKB/Swiss-Prot : 71 Hypophosphatemic rickets, autosomal dominant: A disease 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.

Disease Ontology : 12 A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has material basis in autosomal dominant inheritance.

Wikipedia : 72 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss... more...

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

Diseases in the Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Ar Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Dominant Autosomal Recessive Hypophosphatemic Rickets
Hereditary Hypophosphatemic Rickets

Diseases related to Hypophosphatemic Rickets, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial 11.0
2 jacobsen syndrome 10.3 FGF23 PHEX
3 acute maxillary sinusitis 10.3 FGF23 PHEX
4 spastic ataxia 10.2 FGF23 PHEX
5 hypophosphatemic rickets 10.1
6 subserous uterine fibroid 10.1 FGF23 PHEX
7 rickets 10.0
8 joubert syndrome 9 10.0 FGF23 SLC34A3
9 bone deterioration disease 10.0 FGF23 PHEX
10 mild pre-eclampsia 9.9 FGF23 PHEX SFRP4
11 drug dependence 9.9 FGF23 GALNT3
12 donnai-barrow syndrome 9.8 FGF23 GALNT3
13 hypophosphatemia 9.8
14 osteomalacia 9.8
15 prostate cancer, hereditary, x-linked 2 9.7 FGF23 PHEX SLC34A3
16 loeys-dietz syndrome 9.7 FGF23 GALNT3
17 protein-losing enteropathy 9.7 FGF23 PHEX SLC34A3
18 thanatophoric dysplasia, type ii 9.7 FGF23 GALNT3
19 fatal infantile encephalomyopathy 9.6 FGF23 GALNT3 PHEX
20 atelosteogenesis 9.5 FGF23 GALNT3 PHEX
21 childhood absence epilepsy 9.5 FGF23 GALNT3 PHEX
22 ophn1 syndrome 9.4 FGF23 MEPE PHEX SFRP4
23 post-traumatic stress disorder 9.4 FGF23 GALNT3
24 coffin-lowry syndrome 9.3 FGF23 PHEX SFRP4 SLC34A3
25 gastric antral vascular ectasia 8.9 FGF23 GALNT3 PHEX SLC34A3
26 astrakhan spotted fever 8.9 FGF23 GALNT3 PHEX SLC34A3
27 commensal bacterial infectious disease 8.8 FGF23 MEPE PHEX SFRP4 SLC34A3
28 charcot-marie-tooth disease, type 4k 8.0 FGF23 GALNT3 MEPE PHEX SFRP4 SLC34A3
29 peroxisome biogenesis disorder 2a 7.5 C12orf4 FGF23 GALNT3 MEPE PHEX SFRP4

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets, Autosomal Dominant:



Diseases related to Hypophosphatemic Rickets, Autosomal Dominant

Symptoms & Phenotypes for Hypophosphatemic Rickets, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
bone pain
osteomalacia
rickets (childhood-onset)

Genitourinary- Kidneys:
renal phosphate wasting
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (tmp/gfr)

Growth- Other:
growth retardation (childhood-onset)

Skeletal- Limbs:
lower limb deformities (childhood-onset)
pseudofractures (adult-onset)

Laboratory- Abnormalities:
increased serum alkaline phosphatase
normal serum parathyroid hormone (pth)
hypophosphatemia
inappropriately normal serum 1,25-dihydroxyvitamin d3
normocalcemia

Growth- Height:
short stature (in patients with childhood-onset)

Head And Neck- Teeth:
tooth abscesses

Muscle Soft Tissue:
generalized weakness (adult-onset)


Clinical features from OMIM:

193100

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 hyperphosphaturia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003109
5 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
6 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
7 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
8 hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002148
9 osteomalacia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002749
10 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
11 abnormality of the myocardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0001637
12 abnormality of the respiratory system 56 32 occasional (7.5%) Occasional (29-5%) HP:0002086
13 generalized muscle weakness 32 HP:0003324
14 renal phosphate wasting 32 HP:0000117
15 elevated alkaline phosphatase 32 HP:0003155
16 hypophosphatemic rickets 32 HP:0004912
17 abnormality of the teeth 56 Occasional (29-5%)
18 abnormality of the lower limb 32 HP:0002814
19 abnormality of the dentition 32 occasional (7.5%) HP:0000164

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 FGF23 GALNT3 PHEX SFRP4 SLC34A3
2 limbs/digits/tail MP:0005371 9.46 FGF23 GALNT3 PHEX SFRP4
3 renal/urinary system MP:0005367 9.35 FGF23 GALNT3 PHEX SFRP4 SLC34A3
4 skeleton MP:0005390 9.1 FGF23 GALNT3 MEPE PHEX SFRP4 SLC34A3

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

Drugs for Hypophosphatemic Rickets, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2
Teriparatide Approved, Investigational 52232-67-4 16133850
3
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
4 Ferrous gluconate
5 Hematinics
6 Micronutrients
7 Trace Elements
8 Bone Density Conservation Agents
9 Calcium, Dietary
10 glucocorticoids
11 Vitamins
12 Iron Supplement Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project. Recruiting NCT02233322
2 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hypophosphatemic Rickets 29
2 Hypophosphatemic Rickets, Autosomal Dominant 24 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

MalaCards organs/tissues related to Hypophosphatemic Rickets, Autosomal Dominant:

39
Bone, Testes, Heart

Publications for Hypophosphatemic Rickets, Autosomal Dominant

Variations for Hypophosphatemic Rickets, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

71
id Symbol AA change Variation ID SNP ID
1 FGF23 p.Arg176Gln VAR_010717 rs104894347
2 FGF23 p.Arg179Trp VAR_010718 rs28937882
3 FGF23 p.Arg179Gln VAR_010719 rs193922702

ClinVar genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGF23 NM_020638.2(FGF23): c.527G> A (p.Arg176Gln) single nucleotide variant Pathogenic rs104894347 GRCh37 Chromosome 12, 4479738: 4479738
2 FGF23 NM_020638.2(FGF23): c.535C> T (p.Arg179Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28937882 GRCh37 Chromosome 12, 4479730: 4479730
3 FGF23 NM_020638.2(FGF23): c.162G> C (p.Gln54His) single nucleotide variant Likely pathogenic rs193922701 GRCh37 Chromosome 12, 4488587: 4488587
4 FGF23 NM_020638.2(FGF23): c.536G> A (p.Arg179Gln) single nucleotide variant Pathogenic rs193922702 GRCh37 Chromosome 12, 4479729: 4479729

Expression for Hypophosphatemic Rickets, Autosomal Dominant

Search GEO for disease gene expression data for Hypophosphatemic Rickets, Autosomal Dominant.

Pathways for Hypophosphatemic Rickets, Autosomal Dominant

Pathways related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.39 FGF23 GALNT3

GO Terms for Hypophosphatemic Rickets, Autosomal Dominant

Biological processes related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGF23 GALNT3
2 biomineral tissue development GO:0031214 9.4 MEPE PHEX
3 negative regulation of bone mineralization GO:0030502 9.37 FGF23 MEPE
4 cellular response to vitamin D GO:0071305 9.32 FGF23 PHEX
5 cellular phosphate ion homeostasis GO:0030643 9.26 FGF23 SLC34A3
6 cellular response to parathyroid hormone stimulus GO:0071374 9.16 FGF23 PHEX
7 phosphate ion homeostasis GO:0055062 8.96 FGF23 SFRP4
8 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX

Sources for Hypophosphatemic Rickets, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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