MCID: HYP260
MIFTS: 42

Hypophosphatemic Rickets, Autosomal Dominant malady

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

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 52 24 70 12 50
Autosomal Dominant Hypophosphatemic Rickets 11 54 27 13
Autosomal Dominant Hypophosphatemia 54 70
 
Adhr 54 70
Autosomal Dominant Vitamin D-Resistant Rickets 70

Characteristics:

Orphanet epidemiological data:

54
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
hypophosphatemic rickets, autosomal dominant:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance

Classifications:



External Ids:

OMIM52 193100
Disease Ontology11 DOID:0050948
Orphanet54 ORPHA89937
ICD10 via Orphanet31 E83.3
UMLS via Orphanet69 C0342642
MedGen37 C0342642
MeSH39 D012279

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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OMIM:52 Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and... (193100) more...

MalaCards based summary: Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to tumoral calcinosis, hyperphosphatemic, familial and rickets, and has symptoms including muscle weakness, hypophosphatemia and bone pain. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways Affiliated tissues include bone, testes and heart, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss... more...

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

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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)
idRelated DiseaseScoreTop Affiliating Genes
1tumoral calcinosis, hyperphosphatemic, familial31.3FGF23, GALNT3
2rickets10.6
3jacobsen syndrome10.2FGF23, PHEX
4hyperostosis10.2FGF23, PHEX
5hypophosphatemic rickets10.2
6spastic ataxia10.1FGF23, PHEX
7testicular microlithiasis9.9FGF23, SLC34A3
8substance dependence9.9FGF23, GALNT3
9bone deterioration disease9.8FGF23, MEPE, PHEX
10leukodystrophy9.8FGF23, MEPE, PHEX
11hypophosphatemia9.8
12osteomalacia9.8
13capillariasis9.8FGF23, GALNT3
14prostate cancer, hereditary, x-linked 29.8FGF23, PHEX, SLC34A3
15commensal bacterial infectious disease9.7FGF23, PHEX, SLC34A3
16protein-losing enteropathy9.7FGF23, PHEX, SLC34A3
17maxillary sinusitis9.7FGF23, GALNT3
18familial wilms tumor 29.6FGF23, GALNT3, PHEX
19atelosteogenesis9.6FGF23, GALNT3, PHEX
20mild pre-eclampsia9.6FGF23, GALNT3
21loeys-dietz syndrome9.6FGF23, GALNT3, PHEX
22status epilepticus9.5FGF23, GALNT3, PHEX
23onychotrichodysplasia and neutropenia9.5FGF23, MEPE, PHEX, SFRP4
24thanatophoric dysplasia, type ii9.4FGF23, GALNT3
25brugada syndrome9.3FGF23, MEPE, PHEX, SLC34A3
26sensory peripheral neuropathy9.1FGF23, GALNT3, PHEX, SLC34A3
27astrakhan spotted fever9.1FGF23, GALNT3, PHEX, SLC34A3
28tuberous sclerosis-18.3FGF23, GALNT3, MEPE, PHEX, SFRP4, SLC34A3
29peroxisome biogenesis disorder 2a7.8C12orf4, 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

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Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness64 54 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hypophosphatemia64 54 hallmark (90%) Very frequent (99-80%) HP:0002148
3 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
4 reduced bone mineral density64 hallmark (90%) HP:0004349
5 chondrocalcinosis64 typical (50%) HP:0000934
6 recurrent fractures64 54 typical (50%) Frequent (79-30%) HP:0002757
7 abnormality of the teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000164
8 seizures64 occasional (7.5%) HP:0001250
9 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
10 abnormality of the myocardium64 54 occasional (7.5%) Occasional (29-5%) HP:0001637
11 abnormality of the respiratory system64 54 occasional (7.5%) Occasional (29-5%) HP:0002086
12 spinal canal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003416
13 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
14 reduced consciousness/confusion64 occasional (7.5%) HP:0004372
15 renal phosphate wasting64 HP:0000117
16 osteomalacia64 54 Very frequent (99-80%) HP:0002749
17 abnormality of the lower limb64 HP:0002814
18 elevated alkaline phosphatase64 HP:0003155
19 generalized muscle weakness64 HP:0003324
20 hypophosphatemic rickets64 HP:0004912
21 hyperphosphaturia54 Very frequent (99-80%)
22 fatigue54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6FGF23, GALNT3, PHEX, SFRP4, SLC34A3
2MP:00053678.5FGF23, GALNT3, PHEX, SFRP4, SLC34A3
3MP:00053907.7FGF23, GALNT3, MEPE, PHEX, SLC34A3

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Teriparatideapproved, investigational13552232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
2
Ironapproved11237439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3glucocorticoids4920
4Vitamins5095
5vitamin d1653
6Calcium, Dietary5525
7Trace Elements5802
8Hematinics1630
9Bone Density Conservation Agents3266
10Micronutrients5802
11Ferrous gluconate10
12Iron SupplementNutraceutical175

Interventional clinical trials:

idNameStatusNCT IDPhase
1Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
2Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679

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Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

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Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hypophosphatemic Rickets27
2 Hypophosphatemic Rickets, Autosomal Dominant24 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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

36
Bone, Testes, Heart

Publications for Hypophosphatemic Rickets, Autosomal Dominant

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Variations for Hypophosphatemic Rickets, Autosomal Dominant

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

70
id Symbol AA change Variation ID SNP ID
1FGF23p.Arg176GlnVAR_010717rs104894347
2FGF23p.Arg179TrpVAR_010718rs28937882
3FGF23p.Arg179GlnVAR_010719rs193922702

Clinvar genetic disease variations for Hypophosphatemic Rickets, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.162G> C (p.Gln54His)SNVLikely pathogenicrs193922701GRCh37Chr 12, 4488587: 4488587
2FGF23NM_020638.2(FGF23): c.536G> A (p.Arg179Gln)SNVPathogenicrs193922702GRCh37Chr 12, 4479729: 4479729
3FGF23NM_020638.2(FGF23): c.527G> A (p.Arg176Gln)SNVPathogenicrs104894347GRCh37Chr 12, 4479738: 4479738
4FGF23NM_020638.2(FGF23): c.535C> T (p.Arg179Trp)SNVPathogenicrs28937882GRCh37Chr 12, 4479730: 4479730

Expression for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

Pathways for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

   (show less)
idSuper pathwaysTop Affiliating Genes

GO Terms for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:003064310.0FGF23, SLC34A3
2phosphate ion homeostasisGO:00550629.9FGF23, SFRP4
3negative regulation of bone mineralizationGO:00305029.9FGF23, MEPE
4fibroblast growth factor receptor signaling pathwayGO:00085439.7FGF23, GALNT3
5response to magnesium ionGO:00320269.5FGF23, SLC34A3

Sources for Hypophosphatemic Rickets, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet