MCID: CTN029
MIFTS: 8

Cutaneous-Skeletal Hypophosphatemia Syndrome

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutaneous-Skeletal Hypophosphatemia Syndrome

MalaCards integrated aliases for Cutaneous-Skeletal Hypophosphatemia Syndrome:

Name: Cutaneous-Skeletal Hypophosphatemia Syndrome 54

Classifications:



Summaries for Cutaneous-Skeletal Hypophosphatemia Syndrome

NIH Rare Diseases : 54 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 10.3

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:

42
Skin, Bone

Publications for Cutaneous-Skeletal Hypophosphatemia Syndrome

Articles related to Cutaneous-Skeletal Hypophosphatemia Syndrome:

# Title Authors Year
1
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. ( 30373874 )
2018
2
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. ( 27444071 )
2016
3
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 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
Content
Loading form....