MCID: IMM129
MIFTS: 16

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 56
Lung Fibrosis-Immunodeficiency-46,xx Gonadal Dysgenesis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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 pulmonary fibrosis and immunodeficiency

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

Symptoms via clinical synopsis from OMIM:

56
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

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, Ovary, Tonsil

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. 56
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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