| Disease Browser
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Parent Node:
 Alopecia (D000505) | Parent Node:
Cholangitis, Sclerosing (D015209) | Parent Node:
Ichthyosis (D007057) | Parent Node:
Leukocyte Disorders (D007960) | ..Starting node
.. Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
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Child Nodes:
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Sister Nodes: | ..Cd4+ Lymphocyte Deficiency (C566079)
| ..Eosinophilia (D004802)  18
| ..Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
| ..Infectious Mononucleosis (D007244)
| ..Lazy Leukocyte Syndrome (C562721)
| ..Leukocyte Nuclear Appendages, Hereditary Prevalence of (C563626)
| ..Leukocytosis (D007964) 6
| ..Leukopenia (D007970) 27
| ..Leukostasis (D018921)
| ..Monocyte Esterase Deficiency (C566173)
| ..Neutrophil Actin Dysfunction (C564942)
| ..Neutrophil Chemotactic Response, Abnormal (C563515)
| ..Neutrophilia, Hereditary (C563010)
| ..Pelger-Huet Anomaly (D010381)
| ..Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain (C564899)
| ..Phagocyte Bactericidal Dysfunction (D010585) 14
| ..Phagocytosis, Plasma-Related Defect in (C566808)
| ..Presentey Anomaly (C564893)
| ..Specific Granule Deficiency (C562873)
| ..T-Cell OKT4 Deficiency (C566080)
| ..Undritz Anomaly (C566014)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5685 |
| Name: | Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
| Definition: | |
| Alternative IDs: | OMIM:607626 |
| ParentIDs: | MESH:D000505|MESH:D007057|MESH:D007960|MESH:D015209 |
| TreeNumbers: | C06.130.120.200.110/C564365 |C15.378.553/C564365 |C16.131.831.512/C564365 |C16.614.492/C564365 |C17.800.329.937.122/C564365 |C17.800.428.333/C564365 |C17.800.804.512/C564365 |C23.300.035/C564365 |
| Synonyms: | Ichthyosis-Sclerosing Cholangitis Syndrome |ILVASC |Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |Nisch Syndrome |
| Slim Mappings: | Blood disease|Congenital abnormality|Digestive system disease|Infant-newborn disease|Pathology (anatomical condition)|Skin disease |
| Reference: |
MedGen: C564365
MeSH: C564365
OMIM: 607626;
Genes: CLDN1; | | 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_021101.4(CLDN1):c.358delG (p.Val120Serfs) | 9076 | CLDN1 | Pathogenic | 864309517 | RCV000006462; | N | MedGen:C1843355,OMIM:607626,ORPHA:59303 | 3 | 190030691 | 190030691 | NM_021101.4:c.358delG | NP_066924.1:p.Val120Serfs | NC_000003.11:g.190030691delC | OMIM Allelic Variant:603718.0002 | C1843355 607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | | | | NM_021101.4(CLDN1):c.200_201delTT (p.Phe67Terfs) | 9076 | CLDN1 | Pathogenic | 864309516 | RCV000006461; | N | MedGen:C1843355,OMIM:607626,ORPHA:59303 | 3 | 190039795 | 190039796 | NM_021101.4:c.200_201delTT | NP_066924.1:p.Phe67Terfs | NC_000003.11:g.190039795_190039796delAA | OMIM Allelic Variant:603718.0001 | C1843355 607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | | |
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