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

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Aliases & Classifications for Neutropenia, Chronic Familial

MalaCards integrated aliases for Neutropenia, Chronic Familial:

Name: Neutropenia, Chronic Familial ⁵⁷

Chronic Familial Neutropenia ²⁰ ²⁹ ⁷⁰

Neutropenia Chronic Familial ²⁰

Leukopenia, Benign Familial ⁵⁷

Leukopenia Benign Familial ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant form
recessive forms more frequent

HPO:

³¹

neutropenia, chronic familial:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Infectious diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Nephrological diseases Cardiovascular diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 162700

MedGen ⁴¹ C3665676

SNOMED-CT via HPO ⁶⁸ 127388009 129646001 165517008 more

UMLS ⁷⁰ C3665676

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Summaries for Neutropenia, Chronic Familial

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

More information from OMIM: 162700

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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
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Severe Congenital Neutropenia
Severe Congenital Neutropenia 1	Severe Congenital Neutropenia 7
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia 2
Severe Congenital Neutropenia 5	Severe Congenital Neutropenia 3
Severe Congenital Neutropenia 6	Severe Congenital Neutropenia 8
Severe Congenital Neutropenia 4	Elane-Related Neutropenia
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	10.0

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Symptoms & Phenotypes for Neutropenia, Chronic Familial

Human phenotypes related to Neutropenia, Chronic Familial:

³¹ (show all 7)

#	Description	HPO Source Accession
1	gingivitis ³¹	HP:0000230
2	periodontitis ³¹	HP:0000704
3	neutropenia ³¹	HP:0001875
4	premature loss of teeth ³¹	HP:0006480
5	clubbing of fingers ³¹	HP:0100759
6	clubbing ³¹	HP:0001217
7	increased circulating antibody level ³¹	HP:0010702

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Teeth:
periodontitis
early tooth loss

Mouth:
recurrent oral ulcerations
hyperplastic gingivitis

Lab:
hyperglobulinemia

Heme:
neutropenia

Limbs:
finger clubbing

Clinical features from OMIM®:

162700 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Neutropenia, Chronic Familial

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

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Genetic Tests for Neutropenia, Chronic Familial

Genetic tests related to Neutropenia, Chronic Familial:

#	Genetic test	Affiliating Genes
1	Chronic Familial Neutropenia ²⁹

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Anatomical Context for Neutropenia, Chronic Familial

MalaCards organs/tissues related to Neutropenia, Chronic Familial:

⁴⁰

Bone Marrow, Bone, Heart, Neutrophil

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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. ⁶¹ ⁵⁷	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. ⁵⁷	Nalls MA...Ziv E	18179887	2008
3	Periodontal disease in three siblings with familial neutropenia. ⁵⁷	Kirstila V...Laine J	8336256	1993
4	Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia. ⁵⁷	Holmes JA...Thompson PW	3367348	1988
5	Leukopenia in Ethiopian Jews. ⁵⁷	Berrebi A...Van Dam U	3808001	1987
6	Marrow granulocyte reserves in black Americans. Hydrocortisone-induced granulocytosis in the "benign" neutropenia of the black. ⁵⁷	Mason BA...Schechter GP	463924	1979
7	Chronic neutropenia. ⁵⁷	Dale DC...Chusid MJ	431399	1979
8	Familial leukopenia among Yemenite Jews. ⁵⁷	Shoenfeld Y...Pinkhas J	748240	1978
9	Neutrophil kinetics in hereditary and congenital neutropenias. ⁵⁷	Joyce RA...Chervenick PA	980093	1976
10	Chronic neutropenia in childhood. Analysis of 16 cases and a review of the literature. ⁵⁷	Pincus SH...Stossel TP	795298	1976
11	Letter: Familial benign chronic neutropenia. ⁵⁷	Jacobs P	1135712	1975
12	Genetic neutropenia in people of African origin. ⁵⁷	Shaper AG...Lewis P	4108075	1971
13	Normal blood leukocyte concentration values. ⁵⁷	Orfanakis NG...Athens JW	5444471	1970
14	Leukopenia in Negroes. ⁵⁷	Broun GO...Hamilton JR	5956367	1966
15	FAMILIAL BENIGN CHRONIC NEUTROPENIA. ⁵⁷	CUTTING HO...LANG JE	14242110	1964
16	[Familial neutropenia with dominant hereditary factor and hypergammaglobulinemia]. ⁵⁷	HITZIG WH	14402058	1959
17	Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia. ⁶¹	Buduneli N...Kutukculer N	17315808	2006

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Genes for Neutropenia, Chronic Familial

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Variations for Neutropenia, Chronic Familial

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Expression for Neutropenia, Chronic Familial

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

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Pathways for Neutropenia, Chronic Familial

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GO Terms for Neutropenia, Chronic Familial

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