MCID: HYP852
MIFTS: 12

Hypocalcemic Rickets

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

Aliases & Classifications for Hypocalcemic Rickets

MalaCards integrated aliases for Hypocalcemic Rickets:

Name: Hypocalcemic Rickets 58

Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA289103

Summaries for Hypocalcemic Rickets

MalaCards based summary : Hypocalcemic Rickets is related to rickets and atrial standstill 1. An important gene associated with Hypocalcemic Rickets is VDR (Vitamin D Receptor). Affiliated tissues include bone, testes and heart.

Related Diseases for Hypocalcemic Rickets

Diseases related to Hypocalcemic Rickets via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rickets 10.5
2 atrial standstill 1 10.2
3 dilated cardiomyopathy 10.2
4 hereditary hypophosphatemic rickets 10.2
5 vitamin d-dependent rickets, type 2a 10.1
6 autosomal recessive disease 10.1
7 hemiplegia 10.1
8 hyperparathyroidism 10.1
9 status epilepticus 10.1
10 congestive heart failure 10.1

Graphical network of the top 20 diseases related to Hypocalcemic Rickets:



Diseases related to Hypocalcemic Rickets

Symptoms & Phenotypes for Hypocalcemic Rickets

Drugs & Therapeutics for Hypocalcemic Rickets

Search Clinical Trials , NIH Clinical Center for Hypocalcemic Rickets

Genetic Tests for Hypocalcemic Rickets

Anatomical Context for Hypocalcemic Rickets

MalaCards organs/tissues related to Hypocalcemic Rickets:

40
Bone, Testes, Heart

Publications for Hypocalcemic Rickets

Articles related to Hypocalcemic Rickets:

(show all 14)
# Title Authors PMID Year
1
Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations. 61
25708797 2015
2
[Long term follow up of a patient with type I vitamin D-dependent rickets]. 61
29421501 2015
3
Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis. 61
24470638 2014
4
Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature. 61
19387720 2009
5
Hypocalcemic rickets: an unusual cause of dilated cardiomyopathy. 61
14627327 2003
6
Comparative studies of type X collagen expression in normal and rachitic chicken epiphyseal cartilage. 61
2477383 1989
7
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. 61
2849209 1988
8
Studies on the pathogenesis of avian rickets. I. Changes in epiphyseal and metaphyseal vessels in hypocalcemic and hypophosphatemic rickets. 61
7180943 1982
9
Copper deficiency and hypocalcemic rickets in a small-for-date infant. 61
654908 1978
10
Endotoxin stimulated nitroblue-tetrazolium (NBT)-test in patients with hypoparathyroidism, pseudohypoparathyroidism and other forms of hypocalcemia. 61
206441 1978
11
Association of osteopetrosis and vitamin D-resistant rickets. 61
217852 1977
12
[New aspects of the metabolism of vitamin D and the syndrome of hypocalcemic rickets]. 61
4372585 1974
13
[Changes in the immune mechanisms in infants with hypocalcemic rickets]. 61
5607042 1967
14
[CONVULSIVE STATUS EPILEPTICUS RELATED TO HYPOCALCEMIC RICKETS. RESIDUAL HEMIPLEGIA]. 61
14169049 1964

Variations for Hypocalcemic Rickets

Expression for Hypocalcemic Rickets

Search GEO for disease gene expression data for Hypocalcemic Rickets.

Pathways for Hypocalcemic Rickets

GO Terms for Hypocalcemic Rickets

Sources for Hypocalcemic Rickets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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