MCID: IMM129
MIFTS: 15

Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Immune diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

MalaCards integrated aliases for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis:

Name: Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 57
Lung Fibrosis-Immunodeficiency-46,xx Gonadal Dysgenesis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

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

Miscellaneous:
death due to rapidly progressive pulmonary fibrosis in infancy


HPO:

31
immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare respiratory diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

MalaCards based summary : Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis, is also known as lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome. Affiliated tissues include lung, thymus and t cells, and related phenotypes are immunodeficiency and pulmonary fibrosis

More information from OMIM: 611926

Related Diseases for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Symptoms & Phenotypes for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Human phenotypes related to Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 pulmonary fibrosis 31 HP:0002206
3 gonadal dysgenesis 31 HP:0000133
4 decreased circulating iga level 31 HP:0002720
5 decreased circulating igg level 31 HP:0004315
6 decreased circulating total igm 31 HP:0002850
7 secundum atrial septal defect 31 HP:0001684
8 abnormality of the thymus 31 HP:0000777
9 absent tonsils 31 HP:0030813
10 decreased proportion of cd8-positive t cells 31 HP:0005415
11 decreased proportion of cd4-positive helper t cells 31 HP:0005407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Nasopharynx:
absent tonsils

Head And Neck Neck:
atrophic thymus

Abdomen Gastrointestinal:
mucosal lymphoid tissue markedly reduced

Immunology:
reduced cd3+, cd4+, and cd8+ t-lymphocytes
normal numbers of cd19+ b-lymphocytes
normal numbers of cd56+ natural killer cells
low igg
undetectable igm and iga

Cardiovascular Heart:
atrial septal defect, secundum type

Respiratory Lung:
interalveolar fibrosis, rapidly progressive

Genitourinary Internal Genitalia Female:
streak ovaries with no discernable oocytes

Clinical features from OMIM®:

611926 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Genetic Tests for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Anatomical Context for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

MalaCards organs/tissues related to Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis:

40
Lung, Thymus, T Cells

Publications for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Articles related to Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis:

# Title Authors PMID Year
1
Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome. 57
17937424 2008

Variations for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Expression for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Search GEO for disease gene expression data for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis.

Pathways for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

GO Terms for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

Sources for Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis

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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