IMD59
MCID: IMM194
MIFTS: 18

Immunodeficiency 59 and Hypoglycemia (IMD59)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 59 and Hypoglycemia

MalaCards integrated aliases for Immunodeficiency 59 and Hypoglycemia:

Name: Immunodeficiency 59 and Hypoglycemia 58
Granulocytopenia with Immunoglobulin Abnormality 58 6
Imd59 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated december 2018)
hidradenitis suppurative resolved spontaneously in adulthood
diarrhea and malabsorption resolved spontaneously


HPO:

33
immunodeficiency 59 and hypoglycemia:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 233600
MedGen 43 C1856263

Summaries for Immunodeficiency 59 and Hypoglycemia

OMIM : 58 Immunodeficiency-59 is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dentritic cell deficiency are present (Haapaniemi et al., 2017). (233600)

MalaCards based summary : Immunodeficiency 59 and Hypoglycemia, is also known as granulocytopenia with immunoglobulin abnormality. An important gene associated with Immunodeficiency 59 and Hypoglycemia is HYOU1 (Hypoxia Up-Regulated 1). Affiliated tissues include skin, b cells and dentritic cells, and related phenotypes are decreased antibody level in blood and leukocytosis

Related Diseases for Immunodeficiency 59 and Hypoglycemia

Symptoms & Phenotypes for Immunodeficiency 59 and Hypoglycemia

Human phenotypes related to Immunodeficiency 59 and Hypoglycemia:

33
# Description HPO Frequency HPO Source Accession
1 decreased antibody level in blood 33 HP:0004313
2 leukocytosis 33 HP:0001974
3 granulocytopenia 33 HP:0001913

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skin Nails Hair Skin:
recurrent skin infections
hidradenitis suppurativa
recurrent condylomatous warts in genital and thigh area

Head And Neck Mouth:
high-arched palate
recurrent herpetic stomatitis

Head And Neck Head:
purulent sinusitis

Chest:
hypoplastic thymus

Abdomen Liver:
hepatomegaly, intermittent

Abdomen Gastrointestinal:
diarrhea (in childhood)
malabsorption (in childhood)

Skin Nails Hair Nails:
narrow, long nails

Metabolic Features:
hypoglycemia, stress-induced (precipitated by infection)

Immunology:
primary combined immunodeficiency
absent response to polysaccharide antigens
recurrent infections of mucous membranes
recurrent infections of upper and lower respiratory tract
frequent sepsis
more
Head And Neck Face:
micrognathia
narrow face
oval face
high-sloped forehead
high hairline

Head And Neck Nose:
broad nasal bridge
prominent narrow nose

Skeletal Hands:
slender fingers

Cardiovascular Vascular:
takayasu arteritis, relapsing

Chest External Features:
pectus carinatum, mild

Abdomen Pancreas:
low serum amylase

Skeletal Limbs:
broad metaphyses of long bones

Neurologic Central Nervous System:
learning difficulties in school
infectious encephalitis

Hematology:
granulocytopenia, severe
low b-cell count
dendritic cell deficiency
microcytic hypochromic anemia
thrombocytopenia, intermittent
more
Prenatal Manifestations Placenta And Umbilical Cord:
spontaneous miscarriages due to placental bleeding
placental thrombosis
placental microabscesses resulting in sepsis and fetus mortus

Clinical features from OMIM:

233600

Drugs & Therapeutics for Immunodeficiency 59 and Hypoglycemia

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 59 and Hypoglycemia

Genetic Tests for Immunodeficiency 59 and Hypoglycemia

Anatomical Context for Immunodeficiency 59 and Hypoglycemia

MalaCards organs/tissues related to Immunodeficiency 59 and Hypoglycemia:

42
Skin, B Cells, Dentritic Cells, Bone, T Cells, Bone Marrow, Thymus

Publications for Immunodeficiency 59 and Hypoglycemia

Variations for Immunodeficiency 59 and Hypoglycemia

ClinVar genetic disease variations for Immunodeficiency 59 and Hypoglycemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HYOU1 HYOU1, TYR231HIS undetermined variant Pathogenic
2 HYOU1 HYOU1, ARG419PRO undetermined variant Pathogenic

Expression for Immunodeficiency 59 and Hypoglycemia

Search GEO for disease gene expression data for Immunodeficiency 59 and Hypoglycemia.

Pathways for Immunodeficiency 59 and Hypoglycemia

GO Terms for Immunodeficiency 59 and Hypoglycemia

Sources for Immunodeficiency 59 and Hypoglycemia

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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