MCID: NTR045
MIFTS: 21

Neutropenia, Chronic Familial

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



External Ids:

OMIM® 57 162700
MedGen 41 C3665676
UMLS 70 C3665676

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

Symptoms & Phenotypes for Neutropenia, Chronic Familial

Human phenotypes related to Neutropenia, Chronic Familial:

31 (show all 7)
# Description HPO Frequency 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)

Drugs & Therapeutics for Neutropenia, Chronic Familial

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

Genetic Tests for Neutropenia, Chronic Familial

Genetic tests related to Neutropenia, Chronic Familial:

# Genetic test Affiliating Genes
1 Chronic Familial Neutropenia 29

Anatomical Context for Neutropenia, Chronic Familial

MalaCards organs/tissues related to Neutropenia, Chronic Familial:

40
Bone Marrow, Bone, Heart, Neutrophil

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
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
18179887 2008
3
Periodontal disease in three siblings with familial neutropenia. 57
8336256 1993
4
Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia. 57
3367348 1988
5
Leukopenia in Ethiopian Jews. 57
3808001 1987
6
Marrow granulocyte reserves in black Americans. Hydrocortisone-induced granulocytosis in the "benign" neutropenia of the black. 57
463924 1979
7
Chronic neutropenia. 57
431399 1979
8
Familial leukopenia among Yemenite Jews. 57
748240 1978
9
Neutrophil kinetics in hereditary and congenital neutropenias. 57
980093 1976
10
Chronic neutropenia in childhood. Analysis of 16 cases and a review of the literature. 57
795298 1976
11
Letter: Familial benign chronic neutropenia. 57
1135712 1975
12
Genetic neutropenia in people of African origin. 57
4108075 1971
13
Normal blood leukocyte concentration values. 57
5444471 1970
14
Leukopenia in Negroes. 57
5956367 1966
15
FAMILIAL BENIGN CHRONIC NEUTROPENIA. 57
14242110 1964
16
[Familial neutropenia with dominant hereditary factor and hypergammaglobulinemia]. 57
14402058 1959
17
Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia. 61
17315808 2006

Variations for Neutropenia, Chronic Familial

Expression for Neutropenia, Chronic Familial

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

Pathways for Neutropenia, Chronic Familial

GO Terms for Neutropenia, Chronic Familial

Sources for Neutropenia, Chronic Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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