MCID: NTR045
MIFTS: 20

Neutropenia, Chronic Familial

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

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:



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

Related Diseases for Neutropenia, Chronic Familial

Symptoms & Phenotypes for Neutropenia, Chronic Familial

Human phenotypes related to Neutropenia, Chronic Familial:

33 (show all 7)
# Description HPO Frequency 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

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 30

Anatomical Context for Neutropenia, Chronic Familial

MalaCards organs/tissues related to Neutropenia, Chronic Familial:

42
Bone

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 )
2006
2
Chronic familial neutropenia, with marked periodontal lesions; report of a case. ( 13633229 )
1959

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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