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 53

Classifications:



Summaries for Cutaneous-Skeletal Hypophosphatemia Syndrome

NIH Rare Diseases : 53 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.

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:

41
Skin, Bone

Publications for Cutaneous-Skeletal Hypophosphatemia Syndrome

Articles related to Cutaneous-Skeletal Hypophosphatemia Syndrome:

# Title Authors Year
1
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. ( 27444071 )
2016
2
Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. ( 27497815 )
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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