MCID: ATS125
MIFTS: 12

Autosomal Recessive Infantile Hypercalcemia

Categories: Nephrological diseases, Endocrine diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Autosomal Recessive Infantile Hypercalcemia

MalaCards integrated aliases for Autosomal Recessive Infantile Hypercalcemia:

Name: Autosomal Recessive Infantile Hypercalcemia 56 29
Familial Infantile Hypercalcemia with Suppressed Intact Parathyroid Hormone 56

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive infantile hypercalcemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA300547
ICD10 via Orphanet 34 E83.5

Summaries for Autosomal Recessive Infantile Hypercalcemia

MalaCards based summary : Autosomal Recessive Infantile Hypercalcemia, also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone, is related to mixed receptive-expressive language disorder and primary cutaneous anaplastic large cell lymphoma. An important gene associated with Autosomal Recessive Infantile Hypercalcemia is SLC34A1 (Solute Carrier Family 34 Member 1). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and renal/urinary system

Related Diseases for Autosomal Recessive Infantile Hypercalcemia

Diseases in the Hypercalcemia, Infantile family:

Hypercalcemia, Infantile, 2 Hypercalcemia, Infantile, 1
Autosomal Recessive Infantile Hypercalcemia

Diseases related to Autosomal Recessive Infantile Hypercalcemia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
id Related Disease Score Top Affiliating Genes
1 mixed receptive-expressive language disorder 9.5 CYP24A1 SLC34A1
2 primary cutaneous anaplastic large cell lymphoma 9.4 CYP24A1 SLC34A1
3 hyperphosphatemic familial tumoral calcinosis, galnt3-related 9.2 CYP24A1 SLC34A1

Symptoms & Phenotypes for Autosomal Recessive Infantile Hypercalcemia

GenomeRNAi Phenotypes related to Autosomal Recessive Infantile Hypercalcemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.1 SLC34A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.1 CYP24A1 SLC34A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.1 CYP24A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.1 CYP24A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.1 CYP24A1

MGI Mouse Phenotypes related to Autosomal Recessive Infantile Hypercalcemia:

44 (showing 1, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 CYP24A1 SLC34A1

Drugs & Therapeutics for Autosomal Recessive Infantile Hypercalcemia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Infantile Hypercalcemia

Genetic Tests for Autosomal Recessive Infantile Hypercalcemia

Genetic tests related to Autosomal Recessive Infantile Hypercalcemia:

id Genetic test Affiliating Genes
1 Autosomal Recessive Infantile Hypercalcemia 29

Anatomical Context for Autosomal Recessive Infantile Hypercalcemia

Publications for Autosomal Recessive Infantile Hypercalcemia

Variations for Autosomal Recessive Infantile Hypercalcemia

Expression for Autosomal Recessive Infantile Hypercalcemia

Search GEO for disease gene expression data for Autosomal Recessive Infantile Hypercalcemia.

Pathways for Autosomal Recessive Infantile Hypercalcemia

GO Terms for Autosomal Recessive Infantile Hypercalcemia

Sources for Autosomal Recessive Infantile Hypercalcemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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