MCID: HYP260
MIFTS: 39

Hypophosphatemic Rickets, Autosomal Dominant malady

Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Hypophosphatemic Rickets, Autosomal Dominant:

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


Classifications:



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


External Ids:

OMIM49 193100
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 calcium metabolism disease 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). Affiliated tissues include bone and heart, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

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 Hereditary Hypophosphatemic Rickets
Autosomal Recessive Hypophosphatemic Rickets

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1calcium metabolism disease30.3FGF23, PHEX
2rickets11.0
3hypophosphatemic rickets10.5
4hypophosphatemia10.5
5tumoral calcinosis, hyperphosphatemic, familial10.3
6hypophosphatemic rickets, x-linked dominant10.3
7keratomalacia10.3
8osteomalacia10.3
9metabolic syndrome x10.3
10secondary syphilis10.3
11autosomal dominant disease10.3
12autosomal genetic disease10.3
13bone structure disease10.3
14iron metabolism disease10.3
15metal metabolism disorder10.3
16nutritional deficiency disease10.3
17phosphorus metabolism disease10.3
18renal tubular transport disease10.3
19urinary system disease10.3
20vitamin metabolic disorder10.3
21marchiafava bignami disease10.3
22vitamin d-dependent rickets type ii10.3
23hereditary hypophosphatemic rickets10.3
24vitamin d-dependent rickets, type i10.1
25opsismodysplasia10.0FGF23, PHEX
26idiopathic panuveitis10.0FGF23, PHEX
27entropion10.0FGF23, PHEX
28familial visceral myopathy with external ophthalmoplegia10.0FGF23, PHEX
29rh deficiency syndrome10.0FGF23, PHEX
30proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.0FGF23, PHEX
31marcus gunn phenomenon10.0FGF23, PHEX
32physical disorder10.0FGF23, PHEX
33glycogen storage disease, type ixa110.0FGF23, PHEX
34metaphyseal dysplasia9.9FGF23, PHEX
35neuroectodermal tumor9.9FGF23, PHEX
36mite infestation9.9FGF23, PHEX
37acquired polycythemia9.9FGF23, PHEX
38croup9.8FGF23, PHEX
39focal myositis9.8FGF23, MEPE, PHEX
40pediatric intraocular retinoblastoma9.8FGF23, MEPE, PHEX
41hyperpituitarism9.8FGF23, PHEX
42hypophosphatemic rickets, autosomal dominant9.5FGF23, MEPE, PHEX, SFRP4
43onychocytic matricoma9.5FGF23, 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:

 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 25)
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 autosomal dominant inheritance HP:0000006
16 renal phosphate wasting HP:0000117
17 abnormality of the teeth HP:0000164
18 bone pain HP:0002653
19 osteomalacia HP:0002749
20 abnormality of the lower limb HP:0002814
21 elevated alkaline phosphatase HP:0003155
22 generalized muscle weakness HP:0003324
23 incomplete penetrance HP:0003829
24 short stature HP:0004322
25 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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Teriparatideapproved, investigational12852232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
2
Ironapproved9577439-89-623925
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
3Calcium, Dietary3529
4Ferrous gluconate11
5vitamin d1463
6Iron SupplementNutraceutical153

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 Hypophosphatemic Rickets, Autosomal Dominant22 FGF23
2 Autosomal Dominant Hypophosphatemic Rickets24

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5FGF23, PHEX, SFRP4
2MP:00053818.2FGF23, PHEX, SFRP4

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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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
1negative regulation of bone mineralizationGO:00305029.6FGF23, MEPE
2phosphate ion homeostasisGO:00550629.6FGF23, SFRP4
3skeletal system developmentGO:00015019.3MEPE, PHEX

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