IMDDHH
MCID: IMM188
MIFTS: 20

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 75 6
Imddhh 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency, developmental delay, and hypohomocysteinemia:
Onset and clinical course infantile onset


Classifications:



Summaries for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

UniProtKB/Swiss-Prot : 75 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 heart, liver and skin, and related phenotypes are failure to thrive and global developmental delay

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)

Related Diseases for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Symptoms & Phenotypes for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Symptoms via clinical synopsis from OMIM:

57
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
learning disabilities
speech delay
delayed development, mild
more
Skin Nails Hair Skin:
recurrent skin infections

Laboratory Abnormalities:
decreased creatine
hypohomocysteinemia
decreased plasma cysteine


Clinical features from OMIM:

617744

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 global developmental delay 32 HP:0001263
3 delayed speech and language development 32 HP:0000750
4 intellectual disability, mild 32 HP:0001256
5 immunodeficiency 32 HP:0002721
6 growth delay 32 HP:0001510
7 atrial septal defect 32 very rare (1%) HP:0001631
8 decreased antibody level in blood 32 HP:0004313
9 recurrent infections 32 HP:0002719
10 leukoencephalopathy 32 HP:0002352

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

Anatomical Context for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

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

41
Heart, Liver, Skin, Brain, B Cells

Publications for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

Variations for Immunodeficiency, Developmental Delay, and Hypohomocysteinemia

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

75
# Symbol AA change Variation ID SNP ID
1 NFE2L2 p.Gly31Arg VAR_080492
2 NFE2L2 p.Glu79Lys VAR_080493
3 NFE2L2 p.Thr80Lys VAR_080494
4 NFE2L2 p.Gly81Ser VAR_080495

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NFE2L2 NM_001313904.1(NFE2L2): c.6G> A (p.Lys2=) single nucleotide variant Pathogenic/Likely pathogenic rs1057519922 GRCh37 Chromosome 2, 178098810: 178098810
2 NFE2L2 NM_001313904.1(NFE2L2): c.6G> A (p.Lys2=) single nucleotide variant Pathogenic/Likely pathogenic rs1057519922 GRCh38 Chromosome 2, 177234082: 177234082
3 NFE2L2 NM_006164.4(NFE2L2): c.239C> A (p.Thr80Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 178098806: 178098806
4 NFE2L2 NM_006164.4(NFE2L2): c.239C> A (p.Thr80Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 177234078: 177234078
5 NFE2L2 NM_001313904.1(NFE2L2): c.12G> A (p.Gln4=) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 178098804: 178098804
6 NFE2L2 NM_001313904.1(NFE2L2): c.12G> A (p.Gln4=) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 177234076: 177234076
7 NFE2L2 NM_006164.4(NFE2L2): c.91G> A (p.Gly31Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 2, 178098954: 178098954
8 NFE2L2 NM_006164.4(NFE2L2): c.91G> A (p.Gly31Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 2, 177234226: 177234226

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

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17 ExPASy
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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