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

SCN1 MCID: NTR047 MIFTS: 28	Neutropenia, Severe Congenital, 1, Autosomal Dominant (SCN1) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Drugs 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 ⁵⁸

Neutropenia, Severe Congenital 1, Autosomal Dominant ⁵⁸ ⁷⁶ ¹³

Scn1 ⁵⁸ ⁷⁶

Neutropenia, Severe Congenital, Autosomal Dominant 1 ⁷⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 202700

MeSH ⁴⁵ D009503

MedGen ⁴³ C1859966

SNOMED-CT via HPO ⁷⁰ 127388009 129646001 165397008 more

UMLS ⁷⁴ C1859966

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Summaries for Neutropenia, Severe Congenital, 1, Autosomal Dominant

OMIM : ⁵⁸ 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). The drugs Anticonvulsants and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and monocytes, and related phenotypes are anemia and thrombocytosis

UniProtKB/Swiss-Prot : ⁷⁶ 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
Severe Congenital Neutropenia	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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

#	Related Disease	Score
1	neutropenia, severe congenital, 3, autosomal recessive	11.1
2	neutropenia, severe congenital, 5, autosomal recessive	11.1
3	neutropenia, severe congenital, 7, autosomal recessive	11.1

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

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

³³ (show all 10)

#	Description	HPO Source Accession
1	anemia ³³	HP:0001903
2	thrombocytosis ³³	HP:0001894
3	neutropenia ³³	HP:0001875
4	recurrent bacterial infections ³³	HP:0002718
5	eosinophilia ³³	HP:0001880
6	increased antibody level in blood ³³	HP:0010702
7	monocytosis ³³	HP:0012311
8	acute monocytic leukemia ³³	HP:0004845
9	congenital agranulocytosis ³³	HP:0005541
10	growth abnormality ³³	HP:0001507

Symptoms via clinical synopsis from OMIM:

⁵⁸

Hematology:
thrombocytosis
eosinophilia
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

Drugs for Neutropenia, Severe Congenital, 1, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Anticonvulsants

Phase 2

Stiripentol

Approved

49763-96-4

Epidiolex

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies	Recruiting	NCT03650452	Phase 2	TAK-935;Placebo
2	Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population	Completed	NCT02229032
3	Cardiac Arrhythmias in Dravet Syndrome	Completed	NCT02415686
4	An Evaluation of an SCCD on the Symptomatology of Painful DPN	Recruiting	NCT03331614	Not Applicable
5	Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies	No longer available	NCT02239276		Stiripentol
6	Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies	Terminated	NCT00142363

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

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

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

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

⁴²

Neutrophil, Bone, Monocytes, Bone Marrow

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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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELANE	Elastase, Neutrophil Expressed	Protein Coding	1230.48	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

⁷⁶ (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
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

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

⁶ (show top 50) (show all 76)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ELANE	NM_001972.3(ELANE): c.182C> T (p.Ala61Val)	single nucleotide variant	Pathogenic	rs137854447	GRCh37	Chromosome 19, 852990: 852990
2	ELANE	NM_001972.3(ELANE): c.182C> T (p.Ala61Val)	single nucleotide variant	Pathogenic	rs137854447	GRCh38	Chromosome 19, 852990: 852990
3	ELANE	NM_001972.2(ELANE): c.416C> T (p.Pro139Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137854448	GRCh37	Chromosome 19, 855613: 855613
4	ELANE	NM_001972.2(ELANE): c.416C> T (p.Pro139Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137854448	GRCh38	Chromosome 19, 855613: 855613
5	ELANE	NM_001972.3(ELANE): c.214G> A (p.Val72Met)	single nucleotide variant	Pathogenic	rs387906553	GRCh37	Chromosome 19, 853022: 853022
6	ELANE	NM_001972.3(ELANE): c.214G> A (p.Val72Met)	single nucleotide variant	Pathogenic	rs387906553	GRCh38	Chromosome 19, 853022: 853022
7	ELANE	NM_001972.2(ELANE): c.377C> T (p.Ser126Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137854450	GRCh37	Chromosome 19, 855574: 855574
8	ELANE	NM_001972.2(ELANE): c.377C> T (p.Ser126Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137854450	GRCh38	Chromosome 19, 855574: 855574
9	ELANE	NM_001972.3(ELANE): c.211T> C (p.Cys71Arg)	single nucleotide variant	Pathogenic	rs28931611	GRCh37	Chromosome 19, 853019: 853019
10	ELANE	NM_001972.3(ELANE): c.211T> C (p.Cys71Arg)	single nucleotide variant	Pathogenic	rs28931611	GRCh38	Chromosome 19, 853019: 853019
11	ELANE	NM_001972.3(ELANE): c.292G> T (p.Val98Leu)	single nucleotide variant	no interpretation for the single variant	rs267606781	GRCh37	Chromosome 19, 853329: 853329
12	ELANE	NM_001972.3(ELANE): c.292G> T (p.Val98Leu)	single nucleotide variant	no interpretation for the single variant	rs267606781	GRCh38	Chromosome 19, 853329: 853329
13	ELANE	NM_001972.3(ELANE): c.640G> A (p.Gly214Arg)	single nucleotide variant	Pathogenic	rs137854451	GRCh37	Chromosome 19, 856000: 856000
14	ELANE	NM_001972.3(ELANE): c.640G> A (p.Gly214Arg)	single nucleotide variant	Pathogenic	rs137854451	GRCh38	Chromosome 19, 856000: 856000
15	ELANE	NM_001972.3(ELANE): c.301G> T (p.Val101Leu)	single nucleotide variant	no interpretation for the single variant	rs137854449	GRCh37	Chromosome 19, 853338: 853338
16	ELANE	NM_001972.3(ELANE): c.301G> T (p.Val101Leu)	single nucleotide variant	no interpretation for the single variant	rs137854449	GRCh38	Chromosome 19, 853338: 853338
17	TCIRG1	NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587779413	GRCh37	Chromosome 11, 67817691: 67817691
18	TCIRG1	NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587779413	GRCh38	Chromosome 11, 68050224: 68050224
19	ELANE	NM_001972.3(ELANE): c.606C> T (p.Ser202=)	single nucleotide variant	Benign/Likely benign	rs17216649	GRCh37	Chromosome 19, 855966: 855966
20	ELANE	NM_001972.3(ELANE): c.606C> T (p.Ser202=)	single nucleotide variant	Benign/Likely benign	rs17216649	GRCh38	Chromosome 19, 855966: 855966
21	ELANE	NM_001972.3(ELANE): c.655G> A (p.Val219Ile)	single nucleotide variant	Benign/Likely benign	rs17216656	GRCh38	Chromosome 19, 856015: 856015
22	ELANE	NM_001972.3(ELANE): c.655G> A (p.Val219Ile)	single nucleotide variant	Benign/Likely benign	rs17216656	GRCh37	Chromosome 19, 856015: 856015
23	ELANE	NM_001972.2(ELANE): c.785C> T (p.Pro262Leu)	single nucleotide variant	Benign/Likely benign	rs17216670	GRCh38	Chromosome 19, 856145: 856145
24	ELANE	NM_001972.2(ELANE): c.785C> T (p.Pro262Leu)	single nucleotide variant	Benign/Likely benign	rs17216670	GRCh37	Chromosome 19, 856145: 856145
25	ELANE	NM_001972.3(ELANE): c.561C> A (p.Cys187Ter)	single nucleotide variant	Pathogenic	rs797045009	GRCh38	Chromosome 19, 855758: 855758
26	ELANE	NM_001972.3(ELANE): c.561C> A (p.Cys187Ter)	single nucleotide variant	Pathogenic	rs797045009	GRCh37	Chromosome 19, 855758: 855758
27	ELANE	NM_001972.2(ELANE): c.597+5G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs879253882	GRCh38	Chromosome 19, 855799: 855799
28	ELANE	NM_001972.2(ELANE): c.597+5G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs879253882	GRCh37	Chromosome 19, 855799: 855799
29	ELANE	NM_001972.3(ELANE): c.99C> T (p.Gly33=)	single nucleotide variant	Benign	rs17216628	GRCh38	Chromosome 19, 852907: 852907
30	ELANE	NM_001972.3(ELANE): c.99C> T (p.Gly33=)	single nucleotide variant	Benign	rs17216628	GRCh37	Chromosome 19, 852907: 852907
31	ELANE	NM_001972.3(ELANE): c.171C> T (p.Ala57=)	single nucleotide variant	Benign/Likely benign	rs201224981	GRCh38	Chromosome 19, 852979: 852979
32	ELANE	NM_001972.3(ELANE): c.171C> T (p.Ala57=)	single nucleotide variant	Benign/Likely benign	rs201224981	GRCh37	Chromosome 19, 852979: 852979
33	ELANE	NM_001972.2(ELANE): c.390C> T (p.Asn130=)	single nucleotide variant	Benign	rs17223045	GRCh37	Chromosome 19, 855587: 855587
34	ELANE	NM_001972.2(ELANE): c.390C> T (p.Asn130=)	single nucleotide variant	Benign	rs17223045	GRCh38	Chromosome 19, 855587: 855587
35	ELANE	NM_001972.3(ELANE): c.654C> T (p.Phe218=)	single nucleotide variant	Benign/Likely benign	rs148492780	GRCh37	Chromosome 19, 856014: 856014
36	ELANE	NM_001972.3(ELANE): c.654C> T (p.Phe218=)	single nucleotide variant	Benign/Likely benign	rs148492780	GRCh38	Chromosome 19, 856014: 856014
37	ELANE	NM_001972.2(ELANE): c.770C> T (p.Pro257Leu)	single nucleotide variant	Benign/Likely benign	rs17216663	GRCh38	Chromosome 19, 856130: 856130
38	ELANE	NM_001972.2(ELANE): c.770C> T (p.Pro257Leu)	single nucleotide variant	Benign/Likely benign	rs17216663	GRCh37	Chromosome 19, 856130: 856130
39	ELANE	NM_001972.3(ELANE): c.119C> T (p.Ala40Val)	single nucleotide variant	Uncertain significance	rs1555709342	GRCh38	Chromosome 19, 852927: 852927
40	ELANE	NM_001972.3(ELANE): c.119C> T (p.Ala40Val)	single nucleotide variant	Uncertain significance	rs1555709342	GRCh37	Chromosome 19, 852927: 852927
41	ELANE	NM_001972.3(ELANE): c.16C> A (p.Arg6=)	single nucleotide variant	Benign	rs182347433	GRCh38	Chromosome 19, 852344: 852344
42	ELANE	NM_001972.3(ELANE): c.16C> A (p.Arg6=)	single nucleotide variant	Benign	rs182347433	GRCh37	Chromosome 19, 852344: 852344
43	ELANE	NM_001972.3(ELANE): c.174C> T (p.Thr58=)	single nucleotide variant	Likely benign	rs199714513	GRCh38	Chromosome 19, 852982: 852982
44	ELANE	NM_001972.3(ELANE): c.174C> T (p.Thr58=)	single nucleotide variant	Likely benign	rs199714513	GRCh37	Chromosome 19, 852982: 852982
45	ELANE	NM_001972.3(ELANE): c.24G> C (p.Ala8=)	single nucleotide variant	Likely benign	rs199901033	GRCh37	Chromosome 19, 852352: 852352
46	ELANE	NM_001972.3(ELANE): c.24G> C (p.Ala8=)	single nucleotide variant	Likely benign	rs199901033	GRCh38	Chromosome 19, 852352: 852352
47	ELANE	NM_001972.3(ELANE): c.38C> G (p.Ala13Gly)	single nucleotide variant	Uncertain significance	rs756726256	GRCh37	Chromosome 19, 852366: 852366
48	ELANE	NM_001972.3(ELANE): c.38C> G (p.Ala13Gly)	single nucleotide variant	Uncertain significance	rs756726256	GRCh38	Chromosome 19, 852366: 852366
49	ELANE	NM_001972.3(ELANE): c.172A> C (p.Thr58Pro)	single nucleotide variant	Uncertain significance	rs1555709360	GRCh37	Chromosome 19, 852980: 852980
50	ELANE	NM_001972.3(ELANE): c.172A> C (p.Thr58Pro)	single nucleotide variant	Uncertain significance	rs1555709360	GRCh38	Chromosome 19, 852980: 852980

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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

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

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Sources for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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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:

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

Drugs for Neutropenia, Severe Congenital, 1, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

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

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

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

Publications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

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

ClinVar 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

Sources for Neutropenia, Severe Congenital, 1, Autosomal Dominant