ADHR
MCID: HYP260
MIFTS: 45

Hypophosphatemic Rickets, Autosomal Dominant (ADHR) malady

Genetic diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Hypophosphatemic Rickets, Autosomal Dominant

About this section


Fully expand this MalaCard
Wikipedia:65 Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss... more...

MalaCards based summary: Hypophosphatemic Rickets, Autosomal Dominant, also known as autosomal dominant hypophosphatemic rickets, is related to rickets and x-linked hypophosphatemia, and has symptoms including muscle weakness/flaccidity, osteoporosis/osteopenia/demineralisation/osteomalacia/rickets and bone pain. An important gene associated with Hypophosphatemic Rickets, Autosomal Dominant is FGF23 (fibroblast growth factor 23), and among its related pathways is Phospholipase-C Pathway. The compounds phosphorus and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart, and related mouse phenotypes are immune system and skeleton.

Description from OMIM:46 193100

Aliases & Classifications for Hypophosphatemic Rickets, Autosomal Dominant

About this section
Sources:
20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hypophosphatemic Rickets, Autosomal Dominant, Aliases & Descriptions:

Name: Hypophosphatemic Rickets, Autosomal Dominant 20 22 46 44
Autosomal Dominant Hypophosphatemic Rickets 48
 
Autosomal Dominant Hypophosphatemia 48
Adhr 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant hypophosphatemic rickets:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 193100
ICD10 via Orphanet26 E83.3
UMLS via Orphanet63 C0342642

Related Diseases for Hypophosphatemic Rickets, Autosomal Dominant

About this section

Graphical network of diseases related to Hypophosphatemic Rickets, Autosomal Dominant:



Diseases related to hypophosphatemic rickets, autosomal dominant

Symptoms for Hypophosphatemic Rickets, Autosomal Dominant

About this section

Symptoms by clinical synopsis from OMIM:

193100

Clinical features from OMIM:

193100

Symptoms:

48 (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 26)
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 hypophosphatemia HP:0002148
19 bone pain HP:0002653
20 rickets HP:0002748
21 osteomalacia HP:0002749
22 abnormality of the lower limb HP:0002814
23 elevated alkaline phosphatase HP:0003155
24 generalized muscle weakness HP:0003324
25 incomplete penetrance HP:0003829
26 short stature HP:0004322

Drugs & Therapeutics for Hypophosphatemic Rickets, Autosomal Dominant

About this section

Drug clinical trials:

Search ClinicalTrials for Hypophosphatemic Rickets, Autosomal Dominant

Search NIH Clinical Center for Hypophosphatemic Rickets, Autosomal Dominant

Genetic Tests for Hypophosphatemic Rickets, Autosomal Dominant

About this section

Genetic tests related to Hypophosphatemic Rickets, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, Autosomal Dominant20 FGF23
2 Autosomal Dominant Hypophosphatemic Rickets22

Anatomical Context for Hypophosphatemic Rickets, Autosomal Dominant

About this section

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

32
Bone, Testes, Heart

Animal Models for Hypophosphatemic Rickets, Autosomal Dominant or affiliated genes

About this section

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.8FGF23, PHEX, MEPE
2MP:00053908.7MEPE, PHEX, FGF23
3MP:00053678.6FGF23, PHEX, SFRP4
4MP:00053818.5FGF23, PHEX, SFRP4
5MP:00053978.5FGF23, PHEX, MEPE

Publications for Hypophosphatemic Rickets, Autosomal Dominant

About this section

Variations for Hypophosphatemic Rickets, Autosomal Dominant

About this section

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

64
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:

6
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

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

Pathways for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section

Pathways related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGF23, MEPE

Compounds for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section

Compounds related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphorus449.4FGF23, PHEX
21,25 dihydroxy vitamin d3449.4PHEX, FGF23
3vitamin d449.3FGF23, PHEX
425-hydroxyvitamin d449.3FGF23, SFRP4
5proline449.2FGF23, PHEX
6sodium44 2410.0PHEX, SFRP4
7calcium44 50 24 1111.2SFRP4, PHEX, FGF23
8calcitriol44 61 24 1111.2FGF23, PHEX, MEPE, SFRP4

GO Terms for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section

Biological processes related to Hypophosphatemic Rickets, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.3PHEX, MEPE
2negative regulation of bone mineralizationGO:0305029.1FGF23, MEPE
3phosphate ion homeostasisGO:0550629.0FGF23, SFRP4

Products for genes affiliated with Hypophosphatemic Rickets, Autosomal Dominant

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hypophosphatemic Rickets, Autosomal Dominant

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet