MCID: HYP260
MIFTS: 43

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:
49OMIM, 11diseasecard, 22GeneTests, 47Novoseek, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 12DISEASES, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypophosphatemic Rickets, Autosomal Dominant:

Name: Hypophosphatemic Rickets, Autosomal Dominant 49 11 22 47 67
Autosomal Dominant Hypophosphatemic Rickets 10 12 51 24
Autosomal Dominant Hypophosphatemia 51 67
 
Adhr 51 67
Autosomal Dominant Vitamin D-Resistant Rickets 67

Characteristics:

Orphanet epidemiological data:

51
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

61
hypophosphatemic rickets, autosomal dominant:
Onset and clinical course: incomplete penetrance
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 193100
Disease Ontology10 DOID:0050948
Orphanet51 89937
ICD10 via Orphanet28 E83.3
UMLS via Orphanet66 C0342642
MedGen34 C0342642
MeSH36 D012279

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

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OMIM:49 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 autosomal recessive cerebellar ataxia, and has symptoms including reduced bone mineral density, bone pain and hypophosphatemia. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are Osteoblast Signaling and FGFR3 mutant receptor activation. Affiliated tissues include bone, heart and colon, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Disease Ontology:10 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:67 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1rickets10.7
2autosomal recessive cerebellar ataxia10.3FGF23, PHEX
3paresthesia10.3FGF23, PHEX
4hypophosphatemic rickets10.3
5marcus gunn phenomenon10.2FGF23, PHEX
6bone development disease10.2FGF23, PHEX
7low tension glaucoma10.1FGF23, PHEX
8hereditary xanthinuria10.0SLC34A1, SLC34A3
9sodium channelopathy-related small fiber neuropathy10.0FGF23, GALNT3
10hypervitaminosis a10.0FGF23, GALNT3
11calcium metabolism disease9.9FGF23, MEPE, PHEX
12familial visceral myopathy with external ophthalmoplegia9.9FGF23, GALNT3
13tumoral calcinosis, hyperphosphatemic, familial9.9FGF23, GALNT3
14hypophosphatemia9.9
15osteomalacia9.9
16distal arthrogryposis9.9FGF23, GALNT3
17leukodystrophy9.8FGF23, GALNT3
18proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis9.8FGF23, PHEX, SLC34A3
19pancreatic steatorrhea9.8FGF23, PHEX, SLC34A3
20thanatophoric dysplasia, type ii9.7FGF23, GALNT3
21testicular microlithiasis9.7FGF23, SLC34A1, SLC34A3
22acute maxillary sinusitis9.7FGF23, GALNT3
23secondary lacrimal atrophy9.6FGF23, GALNT3
24antley-bixler syndrome9.5FGF23, GALNT3, SLC34A1
25onychocytic matricoma9.5FGF23, MEPE, PHEX, SFRP4
26neuromyelitis optica9.4SLC34A1, SLC34A3
27pachyonychia congenita9.3FGF23, PHEX, SLC34A1, SLC34A3
28african tick-bite fever9.0FGF23, GALNT3, PHEX, SLC34A3
29primary bacterial infectious disease8.9FGF23, MEPE, PHEX, SLC34A1, SLC34A3
30congenital nervous system abnormality8.5FGF23, GALNT3, PHEX, SLC34A1, SLC34A3
31tuberous sclerosis-17.6FGF23, GALNT3, MEPE, PHEX, SFRP4, SLC34A1
32peroxisome biogenesis disorder 2a7.6FGF23, GALNT3, MEPE, PHEX, SFRP4, SLC34A1

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:

 51 (show all 16)
  • muscle weakness/flaccidity
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bone pain
  • hypophosphatemia
  • autosomal dominant inheritance
  • asthenia/fatigue/weakness
  • mutiple fractures/bone fragility
  • periarticular tissue anomaly/extraarticular calcifications
  • anomalies of teeth and dentition
  • rachidian/spine canal stenosis
  • structural anomalies of the respiratory system and diaphragm
  • myocardium anomalies/myocarditis
  • heart/cardiac failure
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • short stature/dwarfism/nanism

HPO human phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

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

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Teriparatideapproved, investigational12952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
2
Ironapproved10217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3glucocorticoids3896
4Vitamins3857
5Calcium, Dietary4678
6vitamin d1524
7Bone Density Conservation Agents2600
8Micronutrients3901
9Trace Elements3900
10Ferrous gluconate11
11Iron SupplementNutraceutical159

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 Hypophosphatemic Rickets, Autosomal Dominant22 FGF23

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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

33
Bone, Heart, Colon, Endothelial

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.9FGF23, GALNT3, PHEX, SFRP4, SLC34A3
2MP:00053677.3FGF23, GALNT3, PHEX, SFRP4, SLC34A1, SLC34A3
3MP:00053907.3FGF23, GALNT3, MEPE, PHEX, SLC34A1, SLC34A3
4MP:00053767.2FGF23, GALNT3, PHEX, SFRP4, SLC34A1, SLC34A3
5MP:00053786.9FGF23, GALNT3, PHEX, SFRP4, SLC34A1, 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:

67
id Symbol AA change Variation ID SNP ID
1FGF23p.Arg176GlnVAR_010717
2FGF23p.Arg179TrpVAR_010718rs28937882
3FGF23p.Arg179GlnVAR_010719

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
19.6FGF23, SLC34A1
2
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:00550629.6FGF23, SLC34A1
2phosphate ion transportGO:00068179.5SLC34A1, SLC34A3
3cellular response to parathyroid hormone stimulusGO:00713749.5FGF23, SLC34A1
4phosphate ion transmembrane transportGO:00354359.3SLC34A1, SLC34A3

Sources for Hypophosphatemic Rickets, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet