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 ⁵⁸

Chronic Familial Neutropenia ⁵⁴ ³⁰ ⁷⁴

Neutropenia Chronic Familial ⁵⁴

Leukopenia, Benign Familial ⁵⁸

Leukopenia Benign Familial ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant form
recessive forms more frequent

HPO:

³³

neutropenia, chronic familial:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 162700

SNOMED-CT via HPO ⁷⁰ 127388009 129646001 165517008 more

UMLS ⁷⁴ 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, and related phenotypes are gingivitis and periodontitis

Description 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
Severe Congenital Neutropenia	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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

#	Related Disease	Score	Top Affiliating Genes
1	neutropenia	9.9

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Symptoms & Phenotypes for Neutropenia, Chronic Familial

Human phenotypes related to Neutropenia, Chronic Familial:

³³ (show all 7)

#	Description	HPO Source Accession
1	gingivitis ³³	HP:0000230
2	periodontitis ³³	HP:0000704
3	neutropenia ³³	HP:0001875
4	increased antibody level in blood ³³	HP:0010702
5	premature loss of teeth ³³	HP:0006480
6	clubbing of fingers ³³	HP:0100759
7	clubbing ³³	HP:0001217

Symptoms via clinical synopsis from OMIM:

⁵⁸

Teeth:
periodontitis
early tooth loss

Mouth:
recurrent oral ulcerations
hyperplastic gingivitis

Lab:
hyperglobulinemia

Heme:
neutropenia

Limbs:
finger clubbing

Clinical features from OMIM:

162700

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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 ³⁰

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Anatomical Context for Neutropenia, Chronic Familial

MalaCards organs/tissues related to Neutropenia, Chronic Familial:

⁴²

Bone

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Publications for Neutropenia, Chronic Familial

Articles related to Neutropenia, Chronic Familial:

#	Title	Authors	Year
1	Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia. ( 17315808 )	Buduneli N...K?t?k??ler N	2006
2	Chronic familial neutropenia, with marked periodontal lesions; report of a case. ( 13633229 )	LEVINE S	1959

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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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