IMD76
MCID: IMM233
MIFTS: 17

Immunodeficiency 76 (IMD76)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 76

MalaCards integrated aliases for Immunodeficiency 76:

Name: Immunodeficiency 76 57 6
Imd76 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in childhood (in some patients)


Classifications:



External Ids:

OMIM® 57 619164
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 76

OMIM® : 57 Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020). (619164) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 76, is also known as imd76. An important gene associated with Immunodeficiency 76 is FCHO1 (FCH And Mu Domain Containing Endocytic Adaptor 1). Affiliated tissues include bone marrow and t cells.

Related Diseases for Immunodeficiency 76

Symptoms & Phenotypes for Immunodeficiency 76

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
tremor
developmental regression
neurologic involvement (in some patients)

Neoplasia:
lymphoma
hemophagocytic lymphohistiocytosis
lymphomatoid granulomatosis

Immunology:
recurrent infections
lymphadenopathy
primary immunodeficiency
t-cell lymphopenia
b-cell lymphopenia (in some patients)
more
Respiratory:
respiratory infections

Abdomen Gastrointestinal:
gastrointestinal infections

Growth Other:
failure to thrive

Head And Neck Ears:
otitis media

Head And Neck Mouth:
stomatitis
oral thrush

Skin Nails Hair Skin:
skin infections

Clinical features from OMIM®:

619164 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 76

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 76

Genetic Tests for Immunodeficiency 76

Anatomical Context for Immunodeficiency 76

MalaCards organs/tissues related to Immunodeficiency 76:

40
Bone Marrow, T Cells

Publications for Immunodeficiency 76

Articles related to Immunodeficiency 76:

(showing 3, show less)
# Title Authors PMID Year
1
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells. 57 6
32098969 2020
2
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects. 6 57
30822429 2019
3
Treatment outcomes and prognostic factors for non- malignancy associated secondary hemophagocytic lymphohistiocytosis in children. 61
32517812 2020

Variations for Immunodeficiency 76

ClinVar genetic disease variations for Immunodeficiency 76:

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FCHO1 NM_001161358.2(FCHO1):c.2023dup (p.Val675fs) Duplication Pathogenic 805885 GRCh37: 19:17893910-17893911
GRCh38: 19:17783101-17783102
2 FCHO1 NM_015122.3(FCHO1):c.120-1G>C SNV Pathogenic 996542 GRCh37: 19:17875183-17875183
GRCh38: 19:17764374-17764374
3 FCHO1 NM_015122.3(FCHO1):c.27+1G>A SNV Pathogenic 996543 GRCh37: 19:17866001-17866001
GRCh38: 19:17755192-17755192
4 FCHO1 NM_001161358.2(FCHO1):c.2036G>C (p.Arg679Pro) SNV Pathogenic 805883 GRCh37: 19:17893924-17893924
GRCh38: 19:17783115-17783115
5 FCHO1 NM_001161358.2(FCHO1):c.100G>C (p.Ala34Pro) SNV Pathogenic 805884 GRCh37: 19:17873643-17873643
GRCh38: 19:17762834-17762834
6 FCHO1 NM_001161358.2(FCHO1):c.195-2A>C SNV Pathogenic 805887 GRCh37: 19:17877476-17877476
GRCh38: 19:17766667-17766667

Expression for Immunodeficiency 76

Search GEO for disease gene expression data for Immunodeficiency 76.

Pathways for Immunodeficiency 76

GO Terms for Immunodeficiency 76

Sources for Immunodeficiency 76

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