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	dysautonomia, familial

Disease ID	867
Disease	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)
Synonym	dominant hereditary sensory neuropathy, type iii dys dysautonomia familial dysautonomia, familial [disease/finding] familial autonomic nervous dysfunction familial dysautonomia familial dysautonomia (disorder) fd hereditary sensory and autonomic neuropathy 3 hereditary sensory and autonomic neuropathy type iii hereditary sensory and autonomic neuropathy, type iii hereditary sensory and type iii autonomic neuropathy hereditary sensory neuropathy type 3 hereditary sensory neuropathy, dominant, type 3 hereditary sensory neuropathy, dominant, type iii hereditary sensory neuropathy, type 3, dominant hereditary-sensory and autonomic neuropathy type iii hsan (hereditary sensory and autonomic neuropathy) type iii hsan 3 hsan iii hsan type iii hsan3 hsn-iii neuropathy, hereditary and autonomic, type iii neuropathy, hereditary sensory and autonomic, type iii riley day syndrome riley days syndrome riley-day syndrome type 3 hereditary sensory neuropathy, dominant type iii hereditary sensory neuropathy, dominant
Orphanet	ORPHANET:1764
OMIM	OMIM:223900
DOID	DOID:11589
UMLS	C0013364
MeSH	D004402
SNOMED-CT	SNOMEDCT_US_2016_09_01:29159009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0012624 \| spondylodiscitis \| 1 C0022658 \| renal disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8518 \| IKBKAP \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8518 \| IKBKAP \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 10881 \| ACTL7A \| 3.978 \| DISEASES 10880 \| ACTL7B \| 3.732 \| DISEASES 1385 \| CREB1 \| 1.3 \| DISEASES 8727 \| CTNNAL1 \| 3.242 \| DISEASES 5476 \| CTSA \| 1.279 \| DISEASES 57703 \| CWC22 \| 1.844 \| DISEASES 9547 \| CXCL14 \| 1.671 \| DISEASES 1621 \| DBH \| 3.447 \| DISEASES 1644 \| DDC \| 1.539 \| DISEASES 1798 \| DPAGT1 \| 1.702 \| DISEASES 55250 \| ELP2 \| 3.33 \| DISEASES 2524 \| FUT2 \| 1.416 \| DISEASES 9464 \| HAND2 \| 1.446 \| DISEASES 10013 \| HDAC6 \| 2.283 \| DISEASES 3181 \| HNRNPA2B1 \| 1.671 \| DISEASES 8518 \| IKBKAP \| 7.322 \| DISEASES 4128 \| MAOA \| 2.45 \| DISEASES 4214 \| MAP3K1 \| 1.801 \| DISEASES 4217 \| MAP3K5 \| 1.313 \| DISEASES 4644 \| MYO5A \| 2.779 \| DISEASES 4803 \| NGF \| 4.012 \| DISEASES 9241 \| NOG \| 1.249 \| DISEASES 4857 \| NOVA1 \| 2.783 \| DISEASES 594857 \| NPS \| 1.199 \| DISEASES 4908 \| NTF3 \| 1.258 \| DISEASES 4916 \| NTRK3 \| 1.274 \| DISEASES 94233 \| OPN4 \| 2.875 \| DISEASES 5077 \| PAX3 \| 1.185 \| DISEASES 5457 \| POU4F1 \| 2.066 \| DISEASES 221662 \| RBM24 \| 3.874 \| DISEASES 864 \| RUNX3 \| 1.087 \| DISEASES 6663 \| SOX10 \| 1.244 \| DISEASES 6428 \| SRSF3 \| 2.493 \| DISEASES 11075 \| STMN2 \| 2.574 \| DISEASES 6863 \| TAC1 \| 1.683 \| DISEASES 9895 \| TECPR2 \| 3.453 \| DISEASES 23731 \| TMEM245 \| 4.214 \| DISEASES 51592 \| TRIM33 \| 2.935 \| DISEASES
Locus	(Waiting for update.)

Disease ID	867
Disease	dysautonomia, familial
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002066 \| Gait ataxia \| 1 HP:0002013 \| Emesis \| 1 HP:0002018 \| Nausea \| 1 HP:0002017 \| Nausea and vomiting \| 1

Disease ID	867
Disease	dysautonomia, familial
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:4)
Gene	Mutation	DOI	Article Title
IKBKAP	IVS20+6T>C, p.R696P	doi:10.1038/gim.2016.30	Carrier screening in the era of expanding genetic technology
IKBKAP	2507+6T>C; IVS20+6T>C	doi:10.1038/gim.2015.55	The Israeli national population program of genetic carrier screening for reproductive purposes
IKBKAP	c.2204+6T>C	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
IKBKAP	p.R696P20,21	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111033171	NA	8518	IKBKAP	umls:C0013364	CLINVAR	NA	0.589570808	NA	IKBKAP	9	108899816	A	G
rs137853022	NA	8518	IKBKAP	umls:C0013364	CLINVAR	NA	0.589570808	NA	IKBKAP	9	108900303	C	T,G
rs28939712	NA	8518	IKBKAP	umls:C0013364	CLINVAR	NA	0.589570808	NA	IKBKAP	9	108894062	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	867
Disease	dysautonomia, familial
Case	(Waiting for update.)

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