MCID: PLG009
MIFTS: 8

Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Aliases & Classifications for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

MalaCards integrated aliases for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain:

Name: Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
pelger-huet-like anomaly and episodic fever with abdominal pain:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 260570
MedGen 43 C1850054

Summaries for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

MalaCards based summary : Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain Affiliated tissues include neutrophil, and related phenotypes are fever and abdominal pain

Description from OMIM: 260570

Related Diseases for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Symptoms & Phenotypes for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Human phenotypes related to Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain:

33
# Description HPO Frequency HPO Source Accession
1 fever 33 HP:0001945
2 abdominal pain 33 HP:0002027
3 abnormality of blood and blood-forming tissues 33 HP:0001871
4 recurrent fever 33 HP:0001954

Symptoms via clinical synopsis from OMIM:

58
Misc:
episodic fever

Heme:
pelger-huet-like polymorphs

G I:
recurrent attacks of abdominal pain

Lab:
unsegmented neutrophils
unsegmented eosinophils

Clinical features from OMIM:

260570

Drugs & Therapeutics for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Search Clinical Trials , NIH Clinical Center for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Genetic Tests for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Anatomical Context for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

MalaCards organs/tissues related to Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain:

42
Neutrophil

Publications for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Variations for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Expression for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Search GEO for disease gene expression data for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain.

Pathways for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

GO Terms for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

Sources for Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain

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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