MCID: CTN029
MIFTS: 7

Cutaneous-Skeletal Hypophosphatemia Syndrome

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Cutaneous-Skeletal Hypophosphatemia Syndrome

MalaCards integrated aliases for Cutaneous-Skeletal Hypophosphatemia Syndrome:

Name: Cutaneous-Skeletal Hypophosphatemia Syndrome 49

Classifications:



Summaries for Cutaneous-Skeletal Hypophosphatemia Syndrome

NIH Rare Diseases : 49 Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare condition that primarily affects the bones and skin. People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles. Other common features include hypophosphatemia which can be associated with bone pain, limb length discrepancies, bone deformities, and impaired mobility. CSHS occurs sporadically in people with no family history of the condition. It is caused by somatic mutations in the RAS genes. Medications such as Calcitrol and phosphate supplementation are typically prescribed to treat the signs and symptoms of the condition. However, more directed therapies are in development. Last updated: 4/25/2017

MalaCards based summary : Cutaneous-Skeletal Hypophosphatemia Syndrome is related to hypophosphatemia. Affiliated tissues include skin and bone.

Related Diseases for Cutaneous-Skeletal Hypophosphatemia Syndrome

Diseases related to Cutaneous-Skeletal Hypophosphatemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 10.1

Symptoms & Phenotypes for Cutaneous-Skeletal Hypophosphatemia Syndrome

Drugs & Therapeutics for Cutaneous-Skeletal Hypophosphatemia Syndrome

Search Clinical Trials , NIH Clinical Center for Cutaneous-Skeletal Hypophosphatemia Syndrome

Genetic Tests for Cutaneous-Skeletal Hypophosphatemia Syndrome

Anatomical Context for Cutaneous-Skeletal Hypophosphatemia Syndrome

MalaCards organs/tissues related to Cutaneous-Skeletal Hypophosphatemia Syndrome:

38
Skin, Bone

Publications for Cutaneous-Skeletal Hypophosphatemia Syndrome

Articles related to Cutaneous-Skeletal Hypophosphatemia Syndrome:

# Title Authors Year
1
Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. ( 27497815 )
2016
2
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. ( 27444071 )
2016

Variations for Cutaneous-Skeletal Hypophosphatemia Syndrome

Expression for Cutaneous-Skeletal Hypophosphatemia Syndrome

Search GEO for disease gene expression data for Cutaneous-Skeletal Hypophosphatemia Syndrome.

Pathways for Cutaneous-Skeletal Hypophosphatemia Syndrome

GO Terms for Cutaneous-Skeletal Hypophosphatemia Syndrome

Sources for Cutaneous-Skeletal Hypophosphatemia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
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58 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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