MCID: HYP260
MIFTS: 41

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:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 11Disease Ontology, 13DISEASES, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 50 23 68 12 48
Autosomal Dominant Hypophosphatemic Rickets 11 13 52 25
Autosomal Dominant Hypophosphatemia 52 68
 
Adhr 52 68
Autosomal Dominant Vitamin D-Resistant Rickets 68

Characteristics:

Orphanet epidemiological data:

52
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
hypophosphatemic rickets, autosomal dominant:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 193100
Disease Ontology11 DOID:0050948
Orphanet52 ORPHA89937
ICD10 via Orphanet29 E83.3
UMLS via Orphanet67 C0342642
MedGen35 C0342642
MeSH37 D012279

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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OMIM:50 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 rickets and jacobsen syndrome, 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 is Signaling by activated point mutants of FGFR3. Affiliated tissues include bone and heart, and related mouse phenotypes are skeleton and digestive/alimentary.

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:68 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

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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
1rickets10.7
2jacobsen syndrome10.3FGF23, PHEX
3hyperostosis10.2FGF23, PHEX
4spastic ataxia10.1FGF23, PHEX
5hypophosphatemic rickets10.1
6hypophosphatemia9.9
7osteomalacia9.9
8bone deterioration disease9.9FGF23, MEPE, PHEX
9leukodystrophy9.9FGF23, MEPE, PHEX
10testicular microlithiasis9.9FGF23, SLC34A3
11substance dependence9.9FGF23, GALNT3
12tumoral calcinosis, hyperphosphatemic, familial9.8FGF23, GALNT3
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 syndrome9.4FGF23, MEPE, PHEX, SLC34A3
26sensory peripheral neuropathy9.0FGF23, GALNT3, PHEX, SLC34A3
27astrakhan spotted fever9.0FGF23, GALNT3, PHEX, SLC34A3
28tuberous sclerosis-18.1FGF23, GALNT3, MEPE, PHEX, SFRP4, SLC34A3
29peroxisome biogenesis disorder 2a7.6C12orf4, 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 for Hypophosphatemic Rickets, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Symptoms:

 52 (show all 13)
  • abnormality of the teeth
  • muscle weakness
  • congestive heart failure
  • abnormality of the myocardium
  • abnormality of the respiratory system
  • hypophosphatemia
  • bone pain
  • osteomalacia
  • recurrent fractures
  • hyperphosphaturia
  • spinal canal stenosis
  • short stature
  • fatigue

HPO human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

(show all 23)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 hypophosphatemia hallmark (90%) HP:0002148
3 bone pain hallmark (90%) HP:0002653
4 reduced bone mineral density hallmark (90%) HP:0004349
5 chondrocalcinosis typical (50%) HP:0000934
6 recurrent fractures typical (50%) HP:0002757
7 abnormality of the teeth occasional (7.5%) HP:0000164
8 seizures occasional (7.5%) HP:0001250
9 congestive heart failure occasional (7.5%) HP:0001635
10 abnormality of the myocardium occasional (7.5%) HP:0001637
11 abnormality of the respiratory system occasional (7.5%) HP:0002086
12 spinal canal stenosis occasional (7.5%) HP:0003416
13 short stature occasional (7.5%) HP:0004322
14 reduced consciousness/confusion occasional (7.5%) HP:0004372
15 renal phosphate wasting HP:0000117
16 abnormality of the teeth HP:0000164
17 bone pain HP:0002653
18 osteomalacia HP:0002749
19 abnormality of the lower limb HP:0002814
20 elevated alkaline phosphatase HP:0003155
21 generalized muscle weakness HP:0003324
22 short stature HP:0004322
23 hypophosphatemic rickets HP:0004912

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin d1607
2
Teriparatide13052232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
3glucocorticoids4756
4
Iron10807439-89-623925
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

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

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

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 Rickets25
2 Hypophosphatemic Rickets, Autosomal Dominant23 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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

34
Bone, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.8FGF23, GALNT3, MEPE, PHEX, SLC34A3
2MP:00053817.7FGF23, GALNT3, PHEX, SFRP4, SLC34A3
3MP:00053677.4FGF23, GALNT3, PHEX, SFRP4, SLC34A3

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:

68
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)single nucleotide variantLikely pathogenicrs193922701GRCh37Chr 12, 4488587: 4488587
2FGF23NM_020638.2(FGF23): c.536G> A (p.Arg179Gln)single nucleotide variantPathogenicrs193922702GRCh37Chr 12, 4479729: 4479729
3FGF23NM_020638.2(FGF23): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs104894347GRCh37Chr 12, 4479738: 4479738
4FGF23NM_020638.2(FGF23): c.535C> T (p.Arg179Trp)single nucleotide variantPathogenicrs28937882GRCh37Chr 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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3FGF23, GALNT3

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
1phosphate ion homeostasisGO:00550629.9FGF23, SFRP4
2negative regulation of bone mineralizationGO:00305029.8FGF23, MEPE
3cellular phosphate ion homeostasisGO:00306439.7FGF23, SLC34A3
4response to magnesium ionGO:00320269.5FGF23, SLC34A3
5fibroblast growth factor receptor signaling pathwayGO:00085439.0FGF23, GALNT3

Sources for Hypophosphatemic Rickets, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet