IMD59
MCID: IMM194
MIFTS: 25

Immunodeficiency 59 and Hypoglycemia (IMD59)

Categories: Genetic diseases, Immune diseases, Metabolic diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 59 and Hypoglycemia

MalaCards integrated aliases for Immunodeficiency 59 and Hypoglycemia:

Name: Immunodeficiency 59 and Hypoglycemia 57 12 72
Granulocytopenia with Immunoglobulin Abnormality 57 72 29 6 44
Imd59 57 12 72
Granulocytopenia with Immunoglobin Abnormality 12
Immunodeficiency 59 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
immunodeficiency 59 and hypoglycemia:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Immunodeficiency 59 and Hypoglycemia

OMIM® : 57 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) (Updated 20-May-2021)

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 t cells, bone marrow and thymus, and related phenotypes are high palate and encephalitis

Disease Ontology : 12 A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has material basis in homozygous or compound heterozygous mutation in HYOU1 on chromosome 11q23.3.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 59 and hypoglycemia: An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism.

Related Diseases for Immunodeficiency 59 and Hypoglycemia

Symptoms & Phenotypes for Immunodeficiency 59 and Hypoglycemia

Human phenotypes related to Immunodeficiency 59 and Hypoglycemia:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 encephalitis 31 HP:0002383
3 hepatomegaly 31 HP:0002240
4 wide nasal bridge 31 HP:0000431
5 pectus carinatum 31 HP:0000768
6 malabsorption 31 HP:0002024
7 short stature 31 HP:0004322
8 immunodeficiency 31 HP:0002721
9 micrognathia 31 HP:0000347
10 thrombocytopenia 31 HP:0001873
11 narrow face 31 HP:0000275
12 sepsis 31 HP:0100806
13 diarrhea 31 HP:0002014
14 leukocytosis 31 HP:0001974
15 slender finger 31 HP:0001238
16 hypochromic anemia 31 HP:0001931
17 recurrent skin infections 31 HP:0001581
18 oval face 31 HP:0000300
19 arteritis 31 HP:0012089
20 narrow nose 31 HP:0000460
21 stomatitis 31 HP:0010280
22 granulocytopenia 31 HP:0001913
23 acne inversa 31 HP:0040154
24 decreased circulating antibody level 31 HP:0004313
25 herpes encephalitis 31 HP:0020098

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

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

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
Head And Neck Face:
micrognathia
narrow face
oval face
high-sloped forehead
high hairline

Immunology:
herpes encephalitis
primary combined immunodeficiency
absent response to polysaccharide antigens
recurrent infections of mucous membranes
recurrent infections of upper and lower respiratory tract
more
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)

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 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 59 and Hypoglycemia

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

Cochrane evidence based reviews: granulocytopenia with immunoglobulin abnormality

Genetic Tests for Immunodeficiency 59 and Hypoglycemia

Genetic tests related to Immunodeficiency 59 and Hypoglycemia:

# Genetic test Affiliating Genes
1 Granulocytopenia with Immunoglobulin Abnormality 29 HYOU1

Anatomical Context for Immunodeficiency 59 and Hypoglycemia

MalaCards organs/tissues related to Immunodeficiency 59 and Hypoglycemia:

40
T Cells, Bone Marrow, Thymus, Bone, Myeloid

Publications for Immunodeficiency 59 and Hypoglycemia

Articles related to Immunodeficiency 59 and Hypoglycemia:

# Title Authors PMID Year
1
Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. 6 57
27913302 2017
2
Familial granulocytopenia and associated immunoglobulin abnormality. Report of three cases in young brothers. 57
4168442 1967
3
American Academy of Asthma, Allergy & Immunology membership experience with venom immunotherapy in chronic medical conditions and pregnancy, and in young children. 61
28234049 2017

Variations for Immunodeficiency 59 and Hypoglycemia

ClinVar genetic disease variations for Immunodeficiency 59 and Hypoglycemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HYOU1 NM_006389.5(HYOU1):c.691T>C (p.Tyr231His) SNV Pathogenic 599200 GRCh37: 11:118924936-118924936
GRCh38: 11:119054224-119054224
2 HYOU1 NM_006389.5(HYOU1):c.1255G>C (p.Ala419Pro) SNV Pathogenic 599201 GRCh37: 11:118922614-118922614
GRCh38: 11:119051902-119051902

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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