ADHR
MCID: HYP260
MIFTS: 53

Hypophosphatemic Rickets, Autosomal Dominant (ADHR)

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

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

MalaCards integrated aliases for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 57 72 13 54
Autosomal Dominant Hypophosphatemic Rickets 12 58 36 29 6 15
Adhr 57 58 72
Autosomal Dominant Hypophosphatemia 58 72
Vitamin D-Resistant Rickets, Autosomal Dominant 57
Autosomal Dominant Vitamin D-Resistant Rickets 72
Rickets, Hypophosphatemic, Autosomal Dominant 39
Hypophosphatemia, Autosomal Dominant 57

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant hypophosphatemic rickets
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
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, )

Inheritance:
autosomal dominant


HPO:

31
hypophosphatemic rickets, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050948
OMIM® 57 193100
OMIM Phenotypic Series 57 PS193100
KEGG 36 H02141
MeSH 44 D012279
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 71 C0342642 C1704375
Orphanet 58 ORPHA89937
MedGen 41 C0342642

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to oncogenic osteomalacia and hyperparathyroidism. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Signaling by FGFR2 and Parathyroid hormone synthesis, secretion and action. The drugs Ferrous gluconate and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are hypophosphatemia and hyperphosphaturia

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.

KEGG : 36 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

Diseases in the Hereditary Hypophosphatemic Rickets family:

Hypophosphatemic Rickets, Autosomal Dominant Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, Autosomal Recessive, 2 Autosomal Recessive Hypophosphatemic Rickets

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 oncogenic osteomalacia 30.2 SFRP4 PTH PHEX MEPE FGF23
2 hyperparathyroidism 29.7 PTH PHEX KL FGF23 CYP27B1
3 tumoral calcinosis, hyperphosphatemic, familial, 1 29.0 SLC34A3 PTH PHEX MEPE KL GALNT3
4 secondary hyperparathyroidism 29.0 PTH PHEX KL FGF23 CYP27B1 CYP24A1
5 hypophosphatemic rickets, x-linked recessive 28.3 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
6 rickets 28.0 SLC34A3 SLC34A1 PTH PHEX MEPE KL
7 hypophosphatemia 27.5 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
8 osteomalacia 27.3 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
9 hypophosphatemic rickets, x-linked dominant 26.9 SLC34A3 SLC34A1 SFRP4 PTH PHEX MEPE
10 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
11 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
12 opsismodysplasia 10.3 PHEX FGF23
13 blount's disease 10.3 SLC34A3 FGF23
14 osteogenesis imperfecta, type vi 10.2 PHEX MEPE
15 hepatocellular clear cell carcinoma 10.2 KL FGF23
16 microcephaly and chorioretinopathy 1 10.2 FGF23 FAM20C
17 raine syndrome 10.2 FGF23 FAM20C
18 hyperlipoproteinemia, type v 10.2 KL FGF23
19 calciphylaxis 10.1 PTH FGF23
20 hypophosphatemic bone disease 10.1
21 osteitis fibrosa 10.1 PTH FGF23
22 gorham's disease 10.1 PTH GALNT3
23 vitamin d-dependent rickets, type 2a 10.1 PHEX CYP27B1
24 osteoblastoma 10.1 MEPE FGF23
25 hypophosphatasia, adult 10.1 PTH ENPP1
26 conjunctival deposit 10.1 KL GALNT3 FGF23
27 angioid streaks 10.1 GALNT3 ENPP1
28 hereditary hypophosphatemic rickets 10.1 SLC34A3 SLC34A1
29 tracheal calcification 10.1 PTH KL FGF23
30 hyperostosis 10.1 KL GALNT3 FGF23
31 iron metabolism disease 10.1
32 hypophosphatasia, childhood 10.0 PTH ENPP1
33 spondylosis 10.0 PTH KL
34 skin atrophy 10.0 KL FGF23 CYP27B1
35 familial tumoral calcinosis 10.0 PHEX KL GALNT3 FGF23
36 back pain 10.0
37 fanconi renotubular syndrome 2 10.0 SLC34A3 SLC34A1 PHEX
38 vitamin d-dependent rickets 9.9 PTH PHEX CYP27B1
39 hypocalcemia, autosomal dominant 1 9.9 PTH FGF23 CYP27B1
40 odontochondrodysplasia 9.9 PTH PHEX MEPE FGF23
41 end stage renal disease 9.9 PTH KL FGF23
42 mesenchymal cell neoplasm 9.9
43 bone disease 9.9 SLC34A3 PTH PHEX FGF23
44 hypophosphatasia 9.9 PTH PHEX FGF23 ENPP1
45 caffey disease 9.9 PTH FAM20C
46 van buchem disease 9.8 SFRP4 PTH
47 malignant choroid melanoma 9.8 CYP27B1 CYP24A1
48 bartter disease 9.8 SLC34A3 SLC34A1 PTH
49 colon sarcoma 9.8 CYP27B1 CYP24A1
50 idiopathic infantile hypercalcemia 9.8 SLC34A1 CYP24A1

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

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
2 hyperphosphaturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003109
3 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 rickets 58 31 frequent (33%) Frequent (79-30%) HP:0002748
6 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
7 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
8 low levels of vitamin d 58 31 frequent (33%) Frequent (79-30%) HP:0100512
9 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
10 tooth abscess 58 31 frequent (33%) Frequent (79-30%) HP:0030757
11 iron deficiency anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001891
12 bowing of the legs 58 31 frequent (33%) Frequent (79-30%) HP:0002979
13 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
14 bone fracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0020110
15 hypocalcemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002901
16 abnormality of the dentition 31 HP:0000164
17 short stature 31 HP:0004322
18 abnormality of the lower limb 31 HP:0002814
19 generalized muscle weakness 31 HP:0003324
20 renal phosphate wasting 31 HP:0000117
21 hypophosphatemic rickets 31 HP:0004912

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypophosphatemia
increased serum alkaline phosphatase
inappropriately normal serum 1,25-dihydroxyvitamin d3
normocalcemia
normal serum parathyroid hormone (pth)

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)

Skeletal:
osteomalacia
bone pain
rickets (childhood-onset)

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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 CYP24A1 CYP27B1 ENPP1 FAM20C FGF23 FURIN
2 homeostasis/metabolism MP:0005376 10.18 CYP24A1 CYP27B1 ENPP1 FAM20C FGF23 GALNT3
3 cardiovascular system MP:0005385 10.13 ENPP1 FGF23 FURIN GALNT3 KL PHEX
4 hematopoietic system MP:0005397 10.13 CYP27B1 FAM20C FGF23 FURIN GALNT3 KL
5 immune system MP:0005387 10.11 CYP27B1 ENPP1 FAM20C FGF23 FURIN GALNT3
6 digestive/alimentary MP:0005381 10.1 FAM20C FGF23 FURIN GALNT3 KL PHEX
7 endocrine/exocrine gland MP:0005379 10.08 CYP27B1 FAM20C FGF23 GALNT3 KL PHEX
8 craniofacial MP:0005382 10.05 CYP27B1 ENPP1 FAM20C GALNT3 KL PHEX
9 limbs/digits/tail MP:0005371 10.02 CYP27B1 ENPP1 FAM20C FGF23 FURIN GALNT3
10 mortality/aging MP:0010768 9.96 CYP24A1 ENPP1 FAM20C FGF23 FURIN KL
11 renal/urinary system MP:0005367 9.9 CYP24A1 CYP27B1 ENPP1 FAM20C FGF23 GALNT3
12 reproductive system MP:0005389 9.56 CYP24A1 CYP27B1 FAM20C FGF23 GALNT3 KL
13 skeleton MP:0005390 9.44 CYP24A1 CYP27B1 ENPP1 FAM20C FGF23 GALNT3

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ferrous gluconate Approved 299-29-6
2
Iron Approved 7439-89-6 23925 29936
3 Hematinics
4 Iron Supplement

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Autosomal Dominant Hypophosphatemic Rickets 29 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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

40
Bone, Kidney

Publications for Hypophosphatemic Rickets, Autosomal Dominant

Articles related to Hypophosphatemic Rickets, Autosomal Dominant:

(show top 50) (show all 126)
# Title Authors PMID Year
1
Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. 61 6 57
9024275 1997
2
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 6 57
11062477 2000
3
Three DNA markers for hypophosphataemic rickets. 57 6
1353055 1992
4
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. 6 61 54
17227222 2007
5
Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. 6 54 61
11805436 2001
6
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. 57 61
9389727 1997
7
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 57
9106524 1997
8
Actions of 1,25-dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets. 57
4353218 1973
9
Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol. 57
4338211 1972
10
Familial hypophosphatemic rickets showing autosomal dominant inheritance. 6
5173181 1971
11
Current concepts. Vitamin D. 57
4309963 1969
12
Growth disturbance in hereditary hypophosphatemia. 57
5925614 1966
13
STUDIES IN HYPOPHOSPHATEMIC VITAMIN D-REFRACTORY OSTEOMALACIA IN ADULTS. 57
14272750 1965
14
A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. 57
13565132 1958
15
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. 61 54
19655082 2010
16
Fibroblast growth factor 23 (FGF23) and the kidney. 54 61
19569031 2009
17
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. 61 54
18682534 2008
18
Regulation of phosphate homeostasis by the phosphatonins and other novel mediators. 61 54
18288501 2008
19
Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. 54 61
17565275 2007
20
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 54 61
16358215 2006
21
Phosphate diabetes, tubular phosphate reabsorption and phosphatonins. 61 54
16214071 2005
22
Comparative genomics on mammalian Fgf6-Fgf23 locus. 61 54
16012775 2005
23
Fibroblast growth factor 23 and its receptors. 54 61
16076372 2005
24
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. 54 61
15687325 2005
25
FGF23 and disorders of phosphate homeostasis. 61 54
15863037 2005
26
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. 61 54
15579309 2004
27
Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. 54 61
14988389 2004
28
Inorganic phosphate homeostasis and the role of dietary phosphorus. 54 61
15256067 2004
29
FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. 61 54
14733920 2004
30
[Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family]. 54 61
15628294 2004
31
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. 61 54
12952917 2003
32
FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. 61 54
12791601 2003
33
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. 54 61
12711740 2003
34
Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. 54 61
12419819 2003
35
FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. 54 61
11409890 2001
36
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. 61 54
11157998 2001
37
Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3. 61 54
9776982 1998
38
X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan. 61
33537138 2021
39
New Therapies for Hypophosphatemia-Related to FGF23 Excess. 61
32504139 2021
40
The Effect of Iron Supplementation on FGF23 in Chronic Kidney Disease Patients: a Systematic Review and Time-Response Meta-Analysis. 61
33462793 2021
41
Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets. 61
32995940 2020
42
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020
43
Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets. 61
31821448 2020
44
Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: A review of the role of iron. 61
31756522 2020
45
Oral Iron Replacement Normalizes Fibroblast Growth Factor 23 in Iron-Deficient Patients With Autosomal Dominant Hypophosphatemic Rickets. 61
31652009 2020
46
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature. 61
31486862 2019
47
FGF23 and Associated Disorders of Phosphate Wasting. 61
31599133 2019
48
Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF. 61
31218207 2019
49
Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. 61
30949368 2019
50
Acute Parathyroid Hormone Injection Increases C-Terminal but Not Intact Fibroblast Growth Factor 23 Levels. 61
28324013 2017

Variations for Hypophosphatemic Rickets, Autosomal Dominant

ClinVar genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF23 NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) SNV Pathogenic 36135 rs193922702 GRCh37: 12:4479729-4479729
GRCh38: 12:4370563-4370563
2 FGF23 NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) SNV Pathogenic 5025 rs104894347 GRCh37: 12:4479738-4479738
GRCh38: 12:4370572-4370572
3 FGF23 NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) SNV Pathogenic 5026 rs28937882 GRCh37: 12:4479730-4479730
GRCh38: 12:4370564-4370564
4 FGF23 NM_020638.3(FGF23):c.162G>C (p.Gln54His) SNV Likely pathogenic 36134 rs193922701 GRCh37: 12:4488587-4488587
GRCh38: 12:4379421-4379421
5 FGF23 NM_020638.3(FGF23):c.-111C>T SNV Uncertain significance 884122 GRCh37: 12:4488859-4488859
GRCh38: 12:4379693-4379693
6 FGF23 NM_020638.3(FGF23):c.211+12T>G SNV Uncertain significance 882163 GRCh37: 12:4488526-4488526
GRCh38: 12:4379360-4379360
7 FGF23 NM_020638.3(FGF23):c.60C>T (p.Ser20=) SNV Uncertain significance 882413 GRCh37: 12:4488689-4488689
GRCh38: 12:4379523-4379523
8 FGF23 NM_020638.3(FGF23):c.*1134A>T SNV Uncertain significance 883198 GRCh37: 12:4478375-4478375
GRCh38: 12:4369209-4369209
9 FGF23 NM_020638.3(FGF23):c.*1548T>G SNV Uncertain significance 883914 GRCh37: 12:4477961-4477961
GRCh38: 12:4368795-4368795
10 FGF23 NM_020638.3(FGF23):c.*1492T>C SNV Uncertain significance 883915 GRCh37: 12:4478017-4478017
GRCh38: 12:4368851-4368851
11 FGF23 NM_020638.3(FGF23):c.*944G>A SNV Uncertain significance 883995 GRCh37: 12:4478565-4478565
GRCh38: 12:4369399-4369399
12 FGF23 NM_020638.3(FGF23):c.*784C>T SNV Uncertain significance 883996 GRCh37: 12:4478725-4478725
GRCh38: 12:4369559-4369559
13 FGF23 NM_020638.3(FGF23):c.*664A>T SNV Uncertain significance 308786 rs886049400 GRCh37: 12:4478845-4478845
GRCh38: 12:4369679-4369679
14 FGF23 NM_020638.3(FGF23):c.*182G>A SNV Uncertain significance 308797 rs563817819 GRCh37: 12:4479327-4479327
GRCh38: 12:4370161-4370161
15 FGF23 NM_020638.3(FGF23):c.*1925A>G SNV Uncertain significance 308774 rs886049397 GRCh37: 12:4477584-4477584
GRCh38: 12:4368418-4368418
16 FGF23 NM_020638.3(FGF23):c.-55C>A SNV Uncertain significance 308810 rs760895385 GRCh37: 12:4488803-4488803
GRCh38: 12:4379637-4379637
17 FGF23 NM_020638.3(FGF23):c.*1049C>T SNV Uncertain significance 308783 rs13312797 GRCh37: 12:4478460-4478460
GRCh38: 12:4369294-4369294
18 FGF23 NM_020638.3(FGF23):c.-23C>T SNV Uncertain significance 308809 rs769953313 GRCh37: 12:4488771-4488771
GRCh38: 12:4379605-4379605
19 FGF23 NM_020638.3(FGF23):c.*278G>C SNV Uncertain significance 308796 rs886049408 GRCh37: 12:4479231-4479231
GRCh38: 12:4370065-4370065
20 FGF23 NM_020638.3(FGF23):c.*181T>C SNV Uncertain significance 308798 rs886049409 GRCh37: 12:4479328-4479328
GRCh38: 12:4370162-4370162
21 FGF23 NM_020638.3(FGF23):c.*93G>A SNV Uncertain significance 308799 rs886049410 GRCh37: 12:4479416-4479416
GRCh38: 12:4370250-4370250
22 FGF23 NM_020638.3(FGF23):c.57G>A (p.Met19Ile) SNV Uncertain significance 308808 rs766148024 GRCh37: 12:4488692-4488692
GRCh38: 12:4379526-4379526
23 FGF23 NM_020638.3(FGF23):c.*1352T>C SNV Uncertain significance 308781 rs886049398 GRCh37: 12:4478157-4478157
GRCh38: 12:4368991-4368991
24 FGF23 NM_020638.3(FGF23):c.*856C>G SNV Uncertain significance 308785 rs886049399 GRCh37: 12:4478653-4478653
GRCh38: 12:4369487-4369487
25 FGF23 NM_020638.3(FGF23):c.*28C>G SNV Uncertain significance 308801 rs886049411 GRCh37: 12:4479481-4479481
GRCh38: 12:4370315-4370315
26 FGF23 NM_020638.3(FGF23):c.*614G>A SNV Uncertain significance 308787 rs886049401 GRCh37: 12:4478895-4478895
GRCh38: 12:4369729-4369729
27 FGF23 NM_020638.3(FGF23):c.*1575T>C SNV Uncertain significance 308778 rs562433374 GRCh37: 12:4477934-4477934
GRCh38: 12:4368768-4368768
28 FGF23 NM_020638.3(FGF23):c.*460A>T SNV Uncertain significance 880706 GRCh37: 12:4479049-4479049
GRCh38: 12:4369883-4369883
29 FGF23 NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) SNV Uncertain significance 880769 GRCh37: 12:4479808-4479808
GRCh38: 12:4370642-4370642
30 FGF23 NM_020638.3(FGF23):c.414G>C (p.Leu138=) SNV Uncertain significance 880770 GRCh37: 12:4479851-4479851
GRCh38: 12:4370685-4370685
31 FGF23 NM_020638.3(FGF23):c.*1292C>T SNV Uncertain significance 882047 GRCh37: 12:4478217-4478217
GRCh38: 12:4369051-4369051
32 FGF23 NM_020638.3(FGF23):c.*998C>G SNV Likely benign 308784 rs71583766 GRCh37: 12:4478511-4478511
GRCh38: 12:4369345-4369345
33 FGF23 NM_020638.3(FGF23):c.*1398T>A SNV Likely benign 880634 GRCh37: 12:4478111-4478111
GRCh38: 12:4368945-4368945
34 FGF23 NM_020638.3(FGF23):c.555G>C (p.Ser185=) SNV Likely benign 308804 rs115283398 GRCh37: 12:4479710-4479710
GRCh38: 12:4370544-4370544
35 FGF23 NM_020638.3(FGF23):c.*388G>A SNV Likely benign 308789 rs13312795 GRCh37: 12:4479121-4479121
GRCh38: 12:4369955-4369955
36 FGF23 NM_020638.3(FGF23):c.138A>G (p.Thr46=) SNV Likely benign 882164 GRCh37: 12:4488611-4488611
GRCh38: 12:4379445-4379445
37 FGF23 NM_020638.3(FGF23):c.249G>A (p.Val83=) SNV Likely benign 882162 GRCh37: 12:4481826-4481826
GRCh38: 12:4372660-4372660
38 FGF23 NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) SNV Benign 308805 rs144925325 GRCh37: 12:4479714-4479714
GRCh38: 12:4370548-4370548
39 FGF23 NM_020638.3(FGF23):c.-53C>G SNV Benign 882414 GRCh37: 12:4488801-4488801
GRCh38: 12:4379635-4379635
40 FGF23 NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) SNV Benign 585858 rs13312793 GRCh37: 12:4479682-4479682
GRCh38: 12:4370516-4370516
41 FGF23 NM_020638.3(FGF23):c.*29C>G SNV Benign 308800 rs71534281 GRCh37: 12:4479480-4479480
GRCh38: 12:4370314-4370314
42 FGF23 NM_020638.3(FGF23):c.*2062A>C SNV Benign 308772 rs558079364 GRCh37: 12:4477447-4477447
GRCh38: 12:4368281-4368281
43 FGF23 NM_020638.3(FGF23):c.*1971T>C SNV Benign 308773 rs140798293 GRCh37: 12:4477538-4477538
GRCh38: 12:4368372-4368372
44 FGF23 NM_020638.3(FGF23):c.716C>T (p.Thr239Met) SNV Benign 308803 rs7955866 GRCh37: 12:4479549-4479549
GRCh38: 12:4370383-4370383
45 FGF23 NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) SNV Benign 308806 rs573322878 GRCh37: 12:4479750-4479750
GRCh38: 12:4370584-4370584
46 FGF23 NM_020638.3(FGF23):c.*1803C>T SNV Benign 308776 rs13312801 GRCh37: 12:4477706-4477706
GRCh38: 12:4368540-4368540
47 FGF23 NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) SNV Benign 308807 rs765478662 GRCh37: 12:4479934-4479934
GRCh38: 12:4370768-4370768
48 FGF23 NM_020638.3(FGF23):c.*23T>G SNV Benign 308802 rs13312794 GRCh37: 12:4479486-4479486
GRCh38: 12:4370320-4370320
49 FGF23 NM_020638.3(FGF23):c.*1429A>T SNV Benign 308779 rs11063112 GRCh37: 12:4478080-4478080
GRCh38: 12:4368914-4368914
50 FGF23 NM_020638.3(FGF23):c.*1079A>G SNV Benign 308782 rs13312798 GRCh37: 12:4478430-4478430
GRCh38: 12:4369264-4369264

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

72
# 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

Expression for Hypophosphatemic Rickets, Autosomal Dominant

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

Pathways for Hypophosphatemic Rickets, Autosomal Dominant

GO Terms for Hypophosphatemic Rickets, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 SFRP4 PTH KL FURIN FGF23 FAM20C
2 extracellular region GO:0005576 9.23 SFRP4 PTH MEPE KL FURIN FGF23

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.83 SLC34A1 MEPE FURIN FGF23 FAM20C
2 skeletal system development GO:0001501 9.79 PTH PHEX MEPE
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.74 KL GALNT3 FGF23
4 calcium ion homeostasis GO:0055074 9.65 PTH KL CYP27B1
5 positive regulation of bone mineralization GO:0030501 9.64 PTH KL
6 ATP metabolic process GO:0046034 9.63 FAM20C ENPP1
7 response to cadmium ion GO:0046686 9.63 SLC34A1 PTH
8 regulation of bone mineralization GO:0030500 9.63 FGF23 ENPP1 CYP27B1
9 response to lead ion GO:0010288 9.62 SLC34A1 PTH
10 biomineral tissue development GO:0031214 9.62 PHEX MEPE FAM20C ENPP1
11 phosphate-containing compound metabolic process GO:0006796 9.61 FGF23 ENPP1
12 negative regulation of bone mineralization GO:0030502 9.61 FGF23 ENPP1
13 response to growth hormone GO:0060416 9.6 SLC34A1 PHEX
14 cellular response to vitamin D GO:0071305 9.59 PHEX FGF23
15 response to magnesium ion GO:0032026 9.58 SLC34A1 FGF23
16 phosphate ion transport GO:0006817 9.58 SLC34A3 SLC34A1
17 vitamin D metabolic process GO:0042359 9.58 FGF23 CYP27B1 CYP24A1
18 vitamin metabolic process GO:0006766 9.56 CYP27B1 CYP24A1
19 response to parathyroid hormone GO:0071107 9.55 SLC34A1 PTH
20 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.54 KL FGF23
21 cellular response to parathyroid hormone stimulus GO:0071374 9.54 SLC34A1 PHEX FGF23
22 response to sodium phosphate GO:1904383 9.52 PHEX FGF23
23 sodium-dependent phosphate transport GO:0044341 9.51 SLC34A3 SLC34A1
24 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.49 FGF23 CYP27B1
25 response to vitamin D GO:0033280 9.46 PTH PHEX CYP27B1 CYP24A1
26 vitamin D catabolic process GO:0042369 9.43 FGF23 CYP27B1 CYP24A1
27 cellular phosphate ion homeostasis GO:0030643 9.26 SLC34A3 SLC34A1 FGF23 ENPP1
28 phosphate ion homeostasis GO:0055062 8.92 SLC34A1 SFRP4 PTH FGF23

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.96 KL FGF23
2 sodium:phosphate symporter activity GO:0005436 8.62 SLC34A3 SLC34A1

Sources for Hypophosphatemic Rickets, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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