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Term ID: | 3501 |
Name: | Dysautonomia, Familial |
Definition: | An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) |
Alternative IDs: | OMIM:223900 |
ParentIDs: | MESH:D009477|MESH:D054969 |
TreeNumbers: | C10.114.750.137.250 |C10.177.575.300 |C10.314.750.600.250 |C10.500.310.309 |C10.574.500.496.250 |C10.668.829.800.625.200 |C10.668.829.800.750.450.250 |C16.131.666.310.309 |C16.320.400.415.309 |C20.111.258.750.600.250 |
Synonyms: | Dominant Hereditary Sensory Neuropathy, Type III |DYS |DYSAUTONOMIA, FAMILIAL |Familial Dysautonomia |FD |Hereditary Sensory and Autonomic Neuropathy 3 |Hereditary Sensory and Autonomic Neuropathy Type III |Hereditary-Sensory and Autonomic Neuropathy Type III |H |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Immune system disease|Nervous system disease |
Reference: |
MedGen: D004402
MeSH: D004402
OMIM: 223900;
Genes: IKBKAP; | 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_003640.4(IKBKAP):c.2741C>T (p.Pro914Leu) | 8518 | IKBKAP | Pathogenic | 28939712 | RCV000006460; | N | MedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:29159009 | 9 | 111656342 | 111656342 | NM_003640.4:c.2741C>T | NP_003631.2:p.Pro914Leu | NC_000009.11:g.111656342G>A | OMIM Allelic Variant:603722.0003 | C0013364 223900 Familial dysautonomia | | | NM_003640.4(IKBKAP):c.2204+6T>C | 8518 | IKBKAP | Pathogenic | 111033171 | RCV000006458; RCV000058928; | Y | MedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:29159009; MedGen:CN221809 | 9 | 111662096 | 111662096 | NM_003640.4:c.2204+6T>C | | | OMIM Allelic Variant:603722.0001 | C0013364 223900 Familial dysautonomia; CN221809 not provided | | | NM_003640.4(IKBKAP):c.2087G>C (p.Arg696Pro) | 8518 | IKBKAP | Pathogenic | 137853022 | RCV000006459; | Y | MedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:29159009 | 9 | 111662583 | 111662583 | NM_003640.4:c.2087G>C | NP_003631.2:p.Arg696Pro | NC_000009.11:g.111662583C>G | OMIM Allelic Variant:603722.0002 | C0013364 223900 Familial dysautonomia | | |
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