Neutropenia, Severe Congenital, 1, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCN1 MCID: NTR047 MIFTS: 36	Neutropenia, Severe Congenital, 1, Autosomal Dominant (SCN1) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 1, Autosomal Dominant ⁵⁶

Neutropenia, Severe Congenital 1, Autosomal Dominant ⁵⁶ ⁷³ ²⁹ ¹³ ⁶

Scn1 ⁵⁶ ⁷³

Neutropenia, Severe Congenital, Autosomal Dominant 1 ⁷¹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy

HPO:

³¹

neutropenia, severe congenital, 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Neuronal diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 202700

OMIM Phenotypic Series ⁵⁶ PS202700

MeSH ⁴³ D009503

MedGen ⁴¹ C1859966

SNOMED-CT via HPO ⁶⁸ 127388009 129646001 165397008 more

UMLS ⁷¹ C1859966

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Summaries for Neutropenia, Severe Congenital, 1, Autosomal Dominant

OMIM : ⁵⁶ Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. (202700)

MalaCards based summary : Neutropenia, Severe Congenital, 1, Autosomal Dominant, also known as neutropenia, severe congenital 1, autosomal dominant, is related to neutropenia, severe congenital, 3, autosomal recessive and neutropenia, severe congenital, 5, autosomal recessive. An important gene associated with Neutropenia, Severe Congenital, 1, Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include neutrophil, monocytes and bone, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot : ⁷³ Neutropenia, severe congenital 1, autosomal dominant: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

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Related Diseases for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Severe Congenital Neutropenia
Severe Congenital Neutropenia 1	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	neutropenia, severe congenital, 3, autosomal recessive	11.2
2	neutropenia, severe congenital, 5, autosomal recessive	11.2
3	neutropenia, severe congenital, 7, autosomal recessive	11.2
4	neutropenia, severe congenital, 8, autosomal dominant	11.2
5	epilepsy	10.3
6	severe congenital neutropenia autosomal dominant	9.4	TCIRG1 ELANE
7	neutropenia	9.2	TCIRG1 ELANE

Graphical network of the top 20 diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

³¹ (show all 10)

#	Description	HPO Source Accession
1	anemia ³¹	HP:0001903
2	neutropenia ³¹	HP:0001875
3	eosinophilia ³¹	HP:0001880
4	recurrent bacterial infections ³¹	HP:0002718
5	thrombocytosis ³¹	HP:0001894
6	acute monocytic leukemia ³¹	HP:0004845
7	monocytosis ³¹	HP:0012311
8	growth abnormality ³¹	HP:0001507
9	increased circulating antibody level ³¹	HP:0010702
10	congenital agranulocytosis ³¹	HP:0005541

Symptoms via clinical synopsis from OMIM:

⁵⁶

Hematology:
eosinophilia
thrombocytosis
increased absolute neutrophil count (anc) within 0.0-0.2 x 10(9)/l
anemia, mild
increase in blood monocytes (2-3 times normal)
more

Immunology:
recurrent severe infections

Clinical features from OMIM:

202700

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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Genetic Tests for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Neutropenia, Severe Congenital 1, Autosomal Dominant ²⁹	ELANE

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Anatomical Context for Neutropenia, Severe Congenital, 1, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

⁴⁰

Neutrophil, Monocytes, Bone, Bone Marrow, Myeloid, Brain, Lung

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Publications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

(show top 50) (show all 55)

#	Title	Authors	PMID	Year
1	Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. ⁶ ⁵⁶	Rosenberg PS...Dale DC	18028488	2008
2	Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. ⁶ ⁵⁶	Dale DC...Horwitz M	11001877	2000
3	Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. ⁵⁶	Klimiankou M...Skokowa J	27270496	2016
4	Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. ⁵⁶	Smith BN...Gale RE	19036076	2009
5	Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. ⁵⁶	Ishikawa N...Kobayashi M	18611981	2008
6	Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. ⁶	Salipante SJ...Horwitz MS	17436313	2007
7	Severe congenital neutropenia: inheritance and pathophysiology. ⁵⁶	Skokowa J...Welte K	17133096	2007
8	LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. ⁵⁶	Skokowa J...Welte K	17063141	2006
9	Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. ⁶	Bellanne-Chantelot C...Donadieu J	14962902	2004
10	ELANE-Related Neutropenia ⁶	Dale DC...Makaryan V	20301705	2002
11	Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. ⁶	Ancliff PJ...Linch DC	11675333	2001
12	Immunodeficiency diseases caused by defects in phagocytes. ⁵⁶	Lekstrom-Himes JA...Gallin JI	11106721	2000
13	Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. ⁵⁶	Freedman MH...Dale DC	10887102	2000
14	Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. ⁵⁶	McLemore ML...Link DC	9691084	1998
15	Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. ⁵⁶	Hermans MH...Touw IP	9639496	1998
16	High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome). ⁵⁶	Yakisan E...Welte K	9386665	1997
17	Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. ⁵⁶	Tidow N...Welte K	9116280	1997
18	Pathophysiology and treatment of severe chronic neutropenia. ⁵⁶	Welte K...Dale D	8624368	1996
19	The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia. ⁵⁶	Rauprich P...Welte K	8541539	1995
20	Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. ⁵⁶	Dong F...Touw IP	7542747	1995
21	Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. ⁵⁶	Bonilla MA...Welte K	7529539	1994
22	Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. ⁵⁶	Dong F...Lowenberg B	7514305	1994
23	A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. ⁵⁶	Dale DC...Lalezari P	8490166	1993
24	Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. ⁵⁶	Bonilla MA...O'Reilly RJ	2471075	1989
25	Congenital agranulocytosis terminating in acute myelomonocytic leukemia. ⁵⁶	Rosen RB...Kang SJ	284110	1979
26	Infantile genetic agranulocytosis and acute lymphocytic leukemia in two sibs. ⁵⁶	Lui V...Frauen B	275472	1978
27	Congenital neutropenia: in vitro growth of colonies mimicking the disease. ⁵⁶	L'Esperance P...Good RA	4514979	1973
28	In vitro induction of myeloid proliferation and maturation in infantile genetic agranulocytosis. ⁵⁶	Barak Y...Sachs L	4326838	1971
29	Congenital agranulocytosis: prolonged survival and terminal acute leukemia. ⁵⁶	Gilman PA...Guild HG	4319697	1970
30	Familial neutropenia possibly caused by deficiency of a plasma factor. ⁵⁶	BJURE J...PLUM CM	13971340	1962
31	Lethal congenital neutropenia with eosinophilia occurring in two siblings. ⁵⁶	ANDREWS JP...SCOTT CH	13683481	1960
32	Infantile agranulocytosis of probably congenital origin. ⁵⁶	HEDENBERG F	13626582	1959
33	Focal and generalized seizure activity after local hippocampal or cortical ablation of NaV 1.1 channels in mice. ⁶¹	Jansen NA...van den Maagdenberg AMJM	32190912	2020
34	Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. ⁶¹	Du J...Lal D	31928904	2020
35	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ⁶¹	Negussie E...Lidauer MH	31155258	2019
36	Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. ⁶¹	Liu Q...Forsman H	31176364	2019
37	ß-Cyanoalanine Synthase Action in Root Hair Elongation is Exerted at Early Steps of the Root Hair Elongation Pathway and is Independent of Direct Cyanide Inactivation of NADPH Oxidase. ⁶¹	Arenas-Alfonseca L...Garcia I	29490083	2018
38	Role of mitochondrial cyanide detoxification in Arabidopsis root hair development. ⁶¹	Arenas-Alfonseca L...Garcia I	30380363	2018
39	Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening. ⁶¹	Griffin A...Baraban SC	29915537	2018
40	Arabidopsis PROTEIN S-ACYL TRANSFERASE4 mediates root hair growth. ⁶¹	Wan ZY...Li S	28107768	2017
41	Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. ⁶¹	Griffin A...Baraban SC	28073790	2017
42	Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation. ⁶¹	Aoki H...Horie M	28217227	2017
43	PLURIPETALA mediates ROP2 localization and stability in parallel to SCN1 but synergistically with TIP1 in root hairs. ⁶¹	Chai S...Zhang Y	27037800	2016
44	Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. ⁶¹	Peeters U...Van Dooren S	26179811	2015
45	Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. ⁶¹	Olesen MS...Svendsen JH	24144883	2014
46	Genomic instability of gold nanoparticle treated human lung fibroblast cells. ⁶¹	Li JJ...Yung LY	21543115	2011
47	Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. ⁶¹	Valdivia CR...Makielski JC	20042427	2010
48	[Association study of the SCN1 gene polymorphism and effective dose of lamotrigine]. ⁶¹	Krikova EV...Burd SG	20037572	2009
49	A RhoGDP dissociation inhibitor spatially regulates growth in root hair cells. ⁶¹	Carol RJ...Dolan L	16355224	2005
50	Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. ⁶¹	Kimata Y...Yanagida M	15126629	2004

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Genes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELANE	Elastase, Neutrophil Expressed	Protein Coding	1320.74	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17436313 14962902 11001877 (more) 11675333 18028488 20301705
2	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	7.75	GeneCards inferred via : Variants (show sections)

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Variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

⁶ (show top 50) (show all 78) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ELANE	NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)	SNV	Pathogenic	535843	rs57246956	19:855649-855649	19:855649-855649
2	ELANE	NM_001972.4(ELANE):c.301G>A (p.Val101Met)	SNV	Pathogenic	844491		19:853338-853338	19:853338-853338
3	ELANE	NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)	SNV	Pathogenic	16738	rs137854445	19:856019-856019	19:856019-856019
4	ELANE	NM_001972.4(ELANE):c.182C>T (p.Ala61Val)	SNV	Pathogenic	16740	rs137854447	19:852990-852990	19:852990-852990
5	ELANE	NM_001972.4(ELANE):c.214G>A (p.Val72Met)	SNV	Pathogenic	16744	rs387906553	19:853022-853022	19:853022-853022
6	ELANE	NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)	SNV	Pathogenic	16746	rs28931611	19:853019-853019	19:853019-853019
7	ELANE	NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	SNV	Pathogenic	16748	rs137854451	19:856000-856000	19:856000-856000
8	ELANE	NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)	SNV	Pathogenic	208494	rs797045009	19:855758-855758	19:855758-855758
9	ELANE	NM_001972.4(ELANE):c.597+1G>A	SNV	Pathogenic	242287	rs1555710005	19:855795-855795	19:855795-855795
10	ELANE	NM_001972.4(ELANE):c.597+5G>A	SNV	Pathogenic/Likely pathogenic	245598	rs879253882	19:855799-855799	19:855799-855799
11	ELANE	NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)	SNV	Pathogenic/Likely pathogenic	16745	rs137854450	19:855574-855574	19:855574-855574
12	ELANE	NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	SNV	Pathogenic/Likely pathogenic	16743	rs137854448	19:855613-855613	19:855613-855613
13	ELANE	NM_001972.4(ELANE):c.308G>C (p.Arg103Pro)	SNV	Likely pathogenic	842953		19:853345-853345	19:853345-853345
14	ELANE	NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)	SNV	Conflicting interpretations of pathogenicity	418179	rs1064793108	19:853288-853288	19:853288-853288
15	ELANE	NM_001972.4(ELANE):c.428G>A (p.Arg143His)	SNV	Conflicting interpretations of pathogenicity	515631	rs200993994	19:855625-855625	19:855625-855625
16	TCIRG1	NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)	SNV	Conflicting interpretations of pathogenicity	127173	rs587779413	11:67817691-67817691	11:68050224-68050224
17	ELANE	NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)	SNV	Conflicting interpretations of pathogenicity	242292	rs199659114	19:855775-855775	19:855775-855775
18	ELANE	NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)	SNV	Conflicting interpretations of pathogenicity	242288	rs201224216	19:856106-856106	19:856106-856106
19	ELANE	NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)	SNV	Uncertain significance	242290	rs201421847	19:853025-853025	19:853025-853025
20	ELANE	NM_001972.4(ELANE):c.431G>A (p.Arg144His)	SNV	Uncertain significance	242281	rs142441575	19:855628-855628	19:855628-855628
21	ELANE	NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)	SNV	Uncertain significance	449746	rs112990855	19:855687-855687	19:855687-855687
22	ELANE	NM_001972.4(ELANE):c.119C>T (p.Ala40Val)	SNV	Uncertain significance	467828	rs1555709342	19:852927-852927	19:852927-852927
23	ELANE	NM_001972.4(ELANE):c.38C>G (p.Ala13Gly)	SNV	Uncertain significance	535841	rs756726256	19:852366-852366	19:852366-852366
24	ELANE	NM_001972.4(ELANE):c.172A>C (p.Thr58Pro)	SNV	Uncertain significance	535840	rs1555709360	19:852980-852980	19:852980-852980
25	ELANE	NM_001972.4(ELANE):c.235G>C (p.Ala79Pro)	SNV	Uncertain significance	535844	rs769123461	19:853272-853272	19:853272-853272
26	ELANE	NM_001972.4(ELANE):c.378G>A (p.Ser126=)	SNV	Uncertain significance	535839	rs202204133	19:855575-855575	19:855575-855575
27	ELANE	NM_001972.4(ELANE):c.565C>A (p.Leu189Ile)	SNV	Uncertain significance	839730		19:855762-855762	19:855762-855762
28	ELANE	NM_001972.4(ELANE):c.634A>G (p.Ile212Val)	SNV	Uncertain significance	855162		19:855994-855994	19:855994-855994
29	ELANE	NM_001972.4(ELANE):c.659G>C (p.Arg220Pro)	SNV	Uncertain significance	851966		19:856019-856019	19:856019-856019
30	ELANE	NM_001972.4(ELANE):c.367-10_367-9dup	duplication	Uncertain significance	849810		19:855552-855553	19:855552-855553
31	ELANE	NC_000019.10:g.(?_852288)_(856184_?)del	deletion	Uncertain significance	832041		19:852288-856184
32	ELANE	NM_001972.4(ELANE):c.233G>C (p.Arg78Pro)	SNV	Uncertain significance	839879		19:853270-853270	19:853270-853270
33	ELANE	NM_001972.4(ELANE):c.253G>A (p.Gly85Arg)	SNV	Uncertain significance	836562		19:853290-853290	19:853290-853290
34	ELANE	NM_001972.4(ELANE):c.262A>G (p.Asn88Asp)	SNV	Uncertain significance	842424		19:853299-853299	19:853299-853299
35	ELANE	NM_001972.4(ELANE):c.665G>A (p.Gly222Asp)	SNV	Uncertain significance	535842	rs1555710104	19:856025-856025	19:856025-856025
36	ELANE	NM_001972.4(ELANE):c.10G>A (p.Gly4Ser)	SNV	Uncertain significance	570477	rs773460580	19:852338-852338	19:852338-852338
37	ELANE	NM_001972.4(ELANE):c.12_14CCG[3] (p.Arg6dup)	short repeat	Uncertain significance	567638	rs1172918693	19:852338-852339	19:852338-852339
38	ELANE	NM_001972.4(ELANE):c.637C>T (p.His213Tyr)	SNV	Uncertain significance	580900	rs201326533	19:855997-855997	19:855997-855997
39	ELANE	NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)	SNV	Uncertain significance	565626	rs1303279241	19:853401-853401	19:853401-853401
40	ELANE	NM_001972.4(ELANE):c.419C>T (p.Ala140Val)	SNV	Uncertain significance	566655	rs538255080	19:855616-855616	19:855616-855616
41	ELANE	NM_001972.4(ELANE):c.342G>T (p.Leu114Phe)	SNV	Uncertain significance	572913	rs1568304522	19:853379-853379	19:853379-853379
42	ELANE	NM_001972.4(ELANE):c.647C>T (p.Ala216Val)	SNV	Uncertain significance	579104	rs760080772	19:856007-856007	19:856007-856007
43	ELANE	NM_001972.4(ELANE):c.748G>A (p.Glu250Lys)	SNV	Uncertain significance	567842	rs1568306204	19:856108-856108	19:856108-856108
44	ELANE	NM_001972.4(ELANE):c.14G>A (p.Arg5His)	SNV	Uncertain significance	661641		19:852342-852342	19:852342-852342
45	ELANE	NM_001972.4(ELANE):c.39C>G (p.Ala13=)	SNV	Uncertain significance	651605		19:852367-852367	19:852367-852367
46	ELANE	NM_001972.4(ELANE):c.64G>C (p.Gly22Arg)	SNV	Uncertain significance	665494		19:852392-852392	19:852392-852392
47	ELANE	NM_001972.4(ELANE):c.70A>C (p.Thr24Pro)	SNV	Uncertain significance	657200		19:852878-852878	19:852878-852878
48	ELANE	NM_001972.4(ELANE):c.256G>T (p.Ala86Ser)	SNV	Uncertain significance	644765		19:853293-853293	19:853293-853293
49	ELANE	NM_001972.4(ELANE):c.292G>A (p.Val98Met)	SNV	Uncertain significance	662721		19:853329-853329	19:853329-853329
50	ELANE	NM_001972.4(ELANE):c.298G>A (p.Ala100Thr)	SNV	Uncertain significance	662107		19:853335-853335	19:853335-853335

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

⁷³ (show top 50) (show all 72)

#	Symbol	AA change	Variation ID	SNP ID
1	ELANE	p.Cys55Tyr	VAR_038609
2	ELANE	p.Ala57Thr	VAR_038610
3	ELANE	p.Ile60Thr	VAR_038611
4	ELANE	p.Cys71Arg	VAR_038612	rs28931611
5	ELANE	p.Cys71Ser	VAR_038613
6	ELANE	p.Gly85Glu	VAR_038614
7	ELANE	p.Val98Leu	VAR_038615	rs267606781
8	ELANE	p.Val101Leu	VAR_038616	rs137854449
9	ELANE	p.Val101Met	VAR_038617	rs137854449
10	ELANE	p.Ser126Leu	VAR_038619	rs137854450
11	ELANE	p.Pro139Leu	VAR_038620	rs137854448
12	ELANE	p.Cys151Ser	VAR_038621
13	ELANE	p.Pro205Arg	VAR_038623	rs155571007
14	ELANE	p.Gly210Val	VAR_038624
15	ELANE	p.Gly214Arg	VAR_038625	rs137854451
16	ELANE	p.Ala25Val	VAR_064512	rs139623008
17	ELANE	p.Ala166Thr	VAR_064513	rs201788817
18	ELANE	p.Pro42Leu	VAR_070696
19	ELANE	p.Phe43Leu	VAR_070697
20	ELANE	p.Met44Arg	VAR_070698
21	ELANE	p.Val45Glu	VAR_070699
22	ELANE	p.Ser46Cys	VAR_070701
23	ELANE	p.Ser46Phe	VAR_070702	rs878855320
24	ELANE	p.Leu47Pro	VAR_070703	rs878855319
25	ELANE	p.Leu47Arg	VAR_070704
26	ELANE	p.Leu49Pro	VAR_070705
27	ELANE	p.His53Leu	VAR_070706
28	ELANE	p.His53Tyr	VAR_070708	rs113169188
29	ELANE	p.Cys55Ser	VAR_070709
30	ELANE	p.Gly56Arg	VAR_070710
31	ELANE	p.Ala57Ser	VAR_070711
32	ELANE	p.Ala57Val	VAR_070712	rs105752011
33	ELANE	p.Leu59Pro	VAR_070713
34	ELANE	p.Ala61Val	VAR_070715	rs137854447
35	ELANE	p.Ser67Trp	VAR_070718
36	ELANE	p.Cys71Phe	VAR_070719	rs878855315
37	ELANE	p.Cys71Tyr	VAR_070720
38	ELANE	p.Val72Gly	VAR_070721
39	ELANE	p.Val80Gly	VAR_070722
40	ELANE	p.Arg81Pro	VAR_070723
41	ELANE	p.Val82Met	VAR_070724
42	ELANE	p.Leu84Pro	VAR_070725	rs106479310
43	ELANE	p.Gly85Arg	VAR_070726
44	ELANE	p.Val98Met	VAR_070728	rs267606781
45	ELANE	p.Arg103Leu	VAR_070729	rs745455816
46	ELANE	p.Arg103Pro	VAR_070730
47	ELANE	p.Ile120Phe	VAR_070733	rs113169152
48	ELANE	p.Ile120Asn	VAR_070734
49	ELANE	p.Ile120Ser	VAR_070735
50	ELANE	p.Leu121Pro	VAR_070736

Sources

Expression for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 1, Autosomal Dominant.

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Pathways for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Sources

GO Terms for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Cellular components related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell	GO:0005623	8.96	TCIRG1 ELANE
2	phagocytic vesicle	GO:0045335	8.62	TCIRG1 ELANE

Biological processes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	8.96	TCIRG1 ELANE
2	cellular calcium ion homeostasis	GO:0006874	8.62	TCIRG1 ELANE

Sources

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neutropenia, Severe Congenital, 1, Autosomal Dominant (SCN1)

Aliases & Classifications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Related Diseases for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Anatomical Context for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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Publications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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Genes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant (1 elite genes):

Variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Expression for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Pathways for Neutropenia, Severe Congenital, 1, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Cellular components related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Neutropenia, Severe Congenital, 1, Autosomal Dominant