| Disease Browser
|
Parent Node:
 Keratoderma, Palmoplantar (D007645) | Parent Node:
Neurocutaneous Syndromes (D020752) | ..Starting node
.. Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
|
Child Nodes:
|
Sister Nodes: | ..Angioma hereditary neurocutaneous (C536364)
| ..Ataxia Telangiectasia (D001260)  6
| ..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
| ..Elejalde Disease (C536203)
| ..Encephalocraniocutaneous lipomatosis (C535736)
| ..Gomez Lopez Hernandez syndrome (C537285)
| ..Johnson neuroectodermal syndrome (C535882)
| ..Neurocutaneous melanosis (C537387)
| ..Neurofibromatoses (D017253) 13
| ..Nevus, Sebaceous of Jadassohn (D054000) 1
| ..PHACE association (C537892)
| ..Phacomatosis pigmentovascularis (C537894)
| ..Sturge-Weber Syndrome (D013341) 1
| ..Tuberous Sclerosis (D014402) 4
| ..von Hippel-Lindau Disease (D006623)
| ..Wyburn Mason's syndrome (C536752)
| ..Zunich neuroectodermal syndrome (C536729)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 1942 |
| Name: | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
| Definition: | |
| Alternative IDs: | OMIM:609528 |
| ParentIDs: | MESH:D007645|MESH:D020752 |
| TreeNumbers: | C10.562/C537943 |C16.131.077.350.712/C537943 |C16.131.831.350.712/C537943 |C16.320.850.250.712/C537943 |C16.320.850.475/C537943 |C17.800.428.435/C537943 |C17.800.804.350.712/C537943 |C17.800.827.250.712/C537943 |C17.800.827.475/C537943 |
| Synonyms: | CEDNIK syndrome |
| Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease |
| Reference: |
MedGen: C537943
MeSH: C537943
OMIM: 609528;
Genes: SNAP29; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_004782.3(SNAP29):c.223delG (p.Val75Serfs) | 9342 | SNAP29 | Pathogenic | 869312906 | RCV000210470; | N | MedGen:C1836033,OMIM:609528,ORPHA:66631 | 22 | 21213621 | 21213621 | NM_004782.3:c.223delG | NP_004773.1:p.Val75Serfs | NC_000022.10:g.21213621delG | - | C1836033 609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | NM_004782.3(SNAP29):c.487dupA (p.Ser163Lysfs) | 9342 | SNAP29 | Pathogenic | 387907363 | RCV000043503; | N | MedGen:C1836033,OMIM:609528,ORPHA:66631 | 22 | 21235389 | 21235389 | NM_004782.3:c.487dupA | NP_004773.1:p.Ser163Lysfs | NC_000022.10:g.21235389dupA | OMIM Allelic Variant:604202.0002 | C1836033 609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | |
|
|
