Neutropenia, Chronic Familial disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Neutropenia, Chronic Familial

MalaCards integrated aliases for Neutropenia, Chronic Familial:

Name: Neutropenia, Chronic Familial ⁵⁷

Chronic Familial Neutropenia ⁵³ ²⁹ ⁷²

Neutropenia Chronic Familial ⁵³

Leukopenia, Benign Familial ⁵⁷

Leukopenia Benign Familial ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant form
recessive forms more frequent

HPO:

³²

neutropenia, chronic familial:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 162700

MedGen ⁴² C3665676

UMLS ⁷² C3665676

Sources

Summaries for Neutropenia, Chronic Familial

MalaCards based summary : Neutropenia, Chronic Familial, also known as chronic familial neutropenia, is related to neutropenia and idiopathic neutropenia. Affiliated tissues include heart, bone and bone marrow, and related phenotypes are gingivitis and periodontitis

More information from OMIM: 162700

Sources

Related Diseases for Neutropenia, Chronic Familial

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	Severe Congenital Neutropenia Autosomal Dominant
Acquired Neutropenia	Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Chronic Familial via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	neutropenia	9.8
2	idiopathic neutropenia	9.8

Sources

Symptoms & Phenotypes for Neutropenia, Chronic Familial

Human phenotypes related to Neutropenia, Chronic Familial:

³² (show all 7)

#	Description	HPO Source Accession
1	gingivitis ³²	HP:0000230
2	periodontitis ³²	HP:0000704
3	neutropenia ³²	HP:0001875
4	increased antibody level in blood ³²	HP:0010702
5	clubbing of fingers ³²	HP:0100759
6	premature loss of teeth ³²	HP:0006480
7	clubbing ³²	HP:0001217

Symptoms via clinical synopsis from OMIM:

⁵⁷

Teeth:
periodontitis
early tooth loss

Mouth:
recurrent oral ulcerations
hyperplastic gingivitis

Lab:
hyperglobulinemia

Heme:
neutropenia

Limbs:
finger clubbing

Clinical features from OMIM:

162700

Sources

Drugs & Therapeutics for Neutropenia, Chronic Familial

Search Clinical Trials , NIH Clinical Center for Neutropenia, Chronic Familial

Sources

Genetic Tests for Neutropenia, Chronic Familial

Genetic tests related to Neutropenia, Chronic Familial:

#	Genetic test	Affiliating Genes
1	Chronic Familial Neutropenia ²⁹

Sources

Anatomical Context for Neutropenia, Chronic Familial

MalaCards organs/tissues related to Neutropenia, Chronic Familial:

⁴¹

Heart, Bone, Bone Marrow, Neutrophil

Sources

Publications for Neutropenia, Chronic Familial

Articles related to Neutropenia, Chronic Familial:

(show all 17)

#	Title	Authors	PMID	Year
1	Chronic familial neutropenia, with marked periodontal lesions; report of a case. ³⁸ ⁸	LEVINE S	13633229	1959
2	Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies. ⁸	Nalls MA...Ziv E	18179887	2008
3	Periodontal disease in three siblings with familial neutropenia. ⁸	Kirstila V...Laine J	8336256	1993
4	Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia. ⁸	Holmes JA...Thompson PW	3367348	1988
5	Leukopenia in Ethiopian Jews. ⁸	Berrebi A...Van Dam U	3808001	1987
6	Marrow granulocyte reserves in black Americans. Hydrocortisone-induced granulocytosis in the "benign" neutropenia of the black. ⁸	Mason BA...Schechter GP	463924	1979
7	Chronic neutropenia. ⁸	Dale DC...Chusid MJ	431399	1979
8	Familial leukopenia among Yemenite Jews. ⁸	Shoenfeld Y...Pinkhas J	748240	1978
9	Neutrophil kinetics in hereditary and congenital neutropenias. ⁸	Joyce RA...Chervenick PA	980093	1976
10	Chronic neutropenia in childhood. Analysis of 16 cases and a review of the literature. ⁸	Pincus SH...Stossel TP	795298	1976
11	Letter: Familial benign chronic neutropenia. ⁸	Jacobs P	1135712	1975
12	Genetic neutropenia in people of African origin. ⁸	Shaper AG...Lewis P	4108075	1971
13	Normal blood leukocyte concentration values. ⁸	Orfanakis NG...Athens JW	5444471	1970
14	Leukopenia in Negroes. ⁸	Broun GO...Hamilton JR	5956367	1966
15	FAMILIAL BENIGN CHRONIC NEUTROPENIA. ⁸	CUTTING HO...LANG JE	14242110	1964
16	[Familial neutropenia with dominant hereditary factor and hypergammaglobulinemia]. ⁸	HITZIG WH	14402058	1959
17	Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia. ³⁸	Buduneli N...Kutukculer N	17315808	2006

Sources

Genes for Neutropenia, Chronic Familial

Sources

Variations for Neutropenia, Chronic Familial

Sources

Expression for Neutropenia, Chronic Familial

Search GEO for disease gene expression data for Neutropenia, Chronic Familial.

Sources

Pathways for Neutropenia, Chronic Familial

Sources

GO Terms for Neutropenia, Chronic Familial

Sources

Sources for Neutropenia, Chronic Familial

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia