Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0012211Abnormal renal physiology
4 HP:0001063Acrocyanosis
5 HP:0000522Alacrima
6 HP:0002019Constipation
7 HP:0012804Corneal ulceration
8 HP:0008000Decreased corneal reflex
9 HP:0003387Decreased number of large peripheral myelinated nerve fibers
10 HP:0005947Decreased sensitivity to hypoxemia
11 HP:0002014Diarrhea
12 HP:0003259Elevated circulating creatinine concentration
13 HP:0000712Emotional lability
14 HP:0001069Episodic hyperhidrosis
15 HP:0008872Feeding difficulties in infancy
16 HP:0002020Gastroesophageal reflux
17 HP:0001290Generalized hypotonia
18 HP:0000096Glomerular sclerosis
19 HP:0001510Growth delay
20 HP:0000822Hypertension
21 HP:0000224Hypogeusia
22 HP:0001265Hyporeflexia
23 HP:0001252Hypotonia
24 HP:0002311Incoordination
25 HP:0003138Increased blood urea nitrogen
26 HP:0002821Neuropathic arthropathy
27 HP:0001278Orthostatic hypotension
28 HP:0003676Progressive
29 HP:0000495Recurrent corneal erosions
30 HP:0001954Recurrent fever
31 HP:0004891Recurrent infections due to aspiration
32 HP:0002650Scoliosis
33 HP:0001649Tachycardia
34 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003640.4(IKBKAP):c.2741C>T (p.Pro914Leu)8518IKBKAPPathogenic28939712RCV000006460; NMedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:291590099111656342111656342NM_003640.4:c.2741C>TNP_003631.2:p.Pro914LeuNC_000009.11:g.111656342G>AOMIM Allelic Variant:603722.0003C0013364 223900 Familial dysautonomia
NM_003640.4(IKBKAP):c.2204+6T>C8518IKBKAPPathogenic111033171RCV000006458; RCV000058928; YMedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:29159009; MedGen:CN2218099111662096111662096NM_003640.4:c.2204+6T>COMIM Allelic Variant:603722.0001C0013364 223900 Familial dysautonomia; CN221809 not provided
NM_003640.4(IKBKAP):c.2087G>C (p.Arg696Pro)8518IKBKAPPathogenic137853022RCV000006459; YMedGen:C0013364,OMIM:223900,ORPHA:1764,SNOMED CT:291590099111662583111662583NM_003640.4:c.2087G>CNP_003631.2:p.Arg696ProNC_000009.11:g.111662583C>GOMIM Allelic Variant:603722.0002C0013364 223900 Familial dysautonomia