IMDDHH
MCID: IMM188
MIFTS: 21

Immunodeficiency, Developmental Delay, and Hypohomocysteinemia (IMDDHH)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

MalaCards integrated aliases for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

Name: Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 57 72 29 6
Imddhh 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
four unrelated patients have been reported (last curated october 2017)


HPO:

31
immunodeficiency, developmental delay, and hypohomocysteinemia:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

UniProtKB/Swiss-Prot : 72 Immunodeficiency, developmental delay, and hypohomocysteinemia: An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant.

MalaCards based summary : Immunodeficiency, Developmental Delay, and Hypohomocysteinemia, is also known as imddhh. An important gene associated with Immunodeficiency, Developmental Delay, and Hypohomocysteinemia is NFE2L2 (Nuclear Factor, Erythroid 2 Like 2). Affiliated tissues include b cells, brain and heart, and related phenotypes are atrial septal defect and failure to thrive

OMIM® : 57 IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017). (617744) (Updated 20-May-2021)

Related Diseases for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Symptoms & Phenotypes for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Human phenotypes related to Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 very rare (1%) HP:0001631
2 failure to thrive 31 HP:0001508
3 global developmental delay 31 HP:0001263
4 recurrent respiratory infections 31 HP:0002205
5 delayed speech and language development 31 HP:0000750
6 short stature 31 HP:0004322
7 intellectual disability, mild 31 HP:0001256
8 immunodeficiency 31 HP:0002721
9 leukoencephalopathy 31 HP:0002352
10 recurrent skin infections 31 HP:0001581
11 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
poor growth

Growth Height:
short stature

Immunology:
immunodeficiency
recurrent infections
hypogammaglobulinemia
decreased memory switched b cells

Cardiovascular Heart:
congenital heart defects (in some patients)
atrial septal defect (in some patients)
cardiomyopathy, (in 1 patient)
thickened bicuspid aortic valve (in 1 patient)

Respiratory:
recurrent respiratory infections

Neurologic Central Nervous System:
intellectual disability, mild
leukoencephalopathy
speech delay
learning disabilities
delayed development, mild
more
Skin Nails Hair Skin:
recurrent skin infections

Laboratory Abnormalities:
decreased creatine
hypohomocysteinemia
decreased plasma cysteine

Clinical features from OMIM®:

617744 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Genetic Tests for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Genetic tests related to Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

# Genetic test Affiliating Genes
1 Immunodeficiency, Developmental Delay, and Hypohomocysteinemia 29 NFE2L2

Anatomical Context for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

MalaCards organs/tissues related to Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

40
B Cells, Brain, Heart

Publications for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Articles related to Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

# Title Authors PMID Year
1
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 6 57
29018201 2017

Variations for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

ClinVar genetic disease variations for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NFE2L2 NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) SNV Pathogenic 376466 rs1057519922 GRCh37: 2:178098810-178098810
GRCh38: 2:177234082-177234082
2 NFE2L2 NM_006164.5(NFE2L2):c.239C>A (p.Thr80Lys) SNV Pathogenic 445148 rs1553487947 GRCh37: 2:178098806-178098806
GRCh38: 2:177234078-177234078
3 NFE2L2 NM_006164.5(NFE2L2):c.241G>A (p.Gly81Ser) SNV Pathogenic 445149 rs1553487942 GRCh37: 2:178098804-178098804
GRCh38: 2:177234076-177234076
4 NFE2L2 NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) SNV Pathogenic 445150 rs1553488015 GRCh37: 2:178098954-178098954
GRCh38: 2:177234226-177234226
5 NFE2L2 NM_006164.5(NFE2L2):c.1624G>A (p.Glu542Lys) SNV Uncertain significance 1033075 GRCh37: 2:178095707-178095707
GRCh38: 2:177230979-177230979

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia:

72
# Symbol AA change Variation ID SNP ID
1 NFE2L2 p.Gly31Arg VAR_080492 rs155348801
2 NFE2L2 p.Glu79Lys VAR_080493 rs105751992
3 NFE2L2 p.Thr80Lys VAR_080494 rs155348794
4 NFE2L2 p.Gly81Ser VAR_080495 rs155348794

Expression for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Search GEO for disease gene expression data for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia.

Pathways for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

GO Terms for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Sources for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

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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