MCID: HYP787
MIFTS: 10

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 56 29

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypophosphatemia, renal, with intracerebral calcifications:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 241519
MedGen 41 C1855809
SNOMED-CT via HPO 68 17944005 258211005

Summaries for Hypophosphatemia, Renal, with Intracerebral Calcifications

MalaCards based summary : Hypophosphatemia, Renal, with Intracerebral Calcifications Affiliated tissues include bone, and related phenotypes are cerebral calcification and short distal phalanx of finger

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 31 HP:0002514
2 short distal phalanx of finger 31 HP:0009882
3 renal phosphate wasting 31 HP:0000117
4 renal hypophosphatemia 31 HP:0008732
5 premature anterior fontanel closure 31 HP:0008491

Symptoms via clinical synopsis from OMIM:

56
Lab:
hypophosphatemia
normal serum calcium
elevated serum alkaline phosphatase
normal blood parathyroid hormone and vitamin d

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

G U:
renal hypophosphatemia
tubular phosphate reabsorption low

Skel:
short distal phalanges

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 29

Anatomical Context for Hypophosphatemia, Renal, with Intracerebral Calcifications

MalaCards organs/tissues related to Hypophosphatemia, Renal, with Intracerebral Calcifications:

40
Bone

Publications for Hypophosphatemia, Renal, with Intracerebral Calcifications

Articles related to Hypophosphatemia, Renal, with Intracerebral Calcifications:

# Title Authors PMID Year
1
Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome? 56
2309790 1990

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
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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