MCID: HYP787
MIFTS: 9

Hypophosphatemia, Renal, with Intracerebral Calcifications

Categories: Nephrological diseases

Aliases & Classifications for Hypophosphatemia, Renal, with Intracerebral Calcifications

MalaCards integrated aliases for Hypophosphatemia, Renal, with Intracerebral Calcifications:

Name: Hypophosphatemia, Renal, with Intracerebral Calcifications 58 30

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypophosphatemia, renal, with intracerebral calcifications:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 241519
MedGen 43 C1855809
SNOMED-CT via HPO 70 17944005 258211005

Summaries for Hypophosphatemia, Renal, with Intracerebral Calcifications

MalaCards based summary : Hypophosphatemia, Renal, with Intracerebral Calcifications Related phenotypes are cerebral calcification and short distal phalanx of finger

Description from OMIM: 241519

Related Diseases for Hypophosphatemia, Renal, with Intracerebral Calcifications

Symptoms & Phenotypes for Hypophosphatemia, Renal, with Intracerebral Calcifications

Human phenotypes related to Hypophosphatemia, Renal, with Intracerebral Calcifications:

33
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 33 HP:0002514
2 short distal phalanx of finger 33 HP:0009882
3 renal phosphate wasting 33 HP:0000117
4 renal hypophosphatemia 33 HP:0008732
5 premature anterior fontanel closure 33 HP:0008491

Symptoms via clinical synopsis from OMIM:

58
Lab:
hypophosphatemia
normal serum calcium
elevated serum alkaline phosphatase
normal blood parathyroid hormone and vitamin d

Skel:
short distal phalanges

G U:
renal hypophosphatemia
tubular phosphate reabsorption low

H E E N T:
intracerebral calcifications
premature anterior fontanel closure
recurrent dental abscesses

Clinical features from OMIM:

241519

Drugs & Therapeutics for Hypophosphatemia, Renal, with Intracerebral Calcifications

Search Clinical Trials , NIH Clinical Center for Hypophosphatemia, Renal, with Intracerebral Calcifications

Genetic Tests for Hypophosphatemia, Renal, with Intracerebral Calcifications

Genetic tests related to Hypophosphatemia, Renal, with Intracerebral Calcifications:

# Genetic test Affiliating Genes
1 Hypophosphatemia, Renal, with Intracerebral Calcifications 30

Anatomical Context for Hypophosphatemia, Renal, with Intracerebral Calcifications

Publications for Hypophosphatemia, Renal, with Intracerebral Calcifications

Variations for Hypophosphatemia, Renal, with Intracerebral Calcifications

Expression for Hypophosphatemia, Renal, with Intracerebral Calcifications

Search GEO for disease gene expression data for Hypophosphatemia, Renal, with Intracerebral Calcifications.

Pathways for Hypophosphatemia, Renal, with Intracerebral Calcifications

GO Terms for Hypophosphatemia, Renal, with Intracerebral Calcifications

Sources for Hypophosphatemia, Renal, with Intracerebral Calcifications

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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