MCID: PLM145
MIFTS: 13

Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome

Categories: Bone diseases, Immune diseases, Liver diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

MalaCards integrated aliases for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome:

Name: Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare respiratory diseases


Summaries for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

MalaCards based summary : Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome Affiliated tissues include bone, bone marrow and liver, and related phenotypes are portal hypertension and pulmonary fibrosis

Related Diseases for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Symptoms & Phenotypes for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Human phenotypes related to Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 portal hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0001409
2 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
3 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
4 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
5 nodular regenerative hyperplasia of liver 58 31 hallmark (90%) Very frequent (99-80%) HP:0011954
6 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
7 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
8 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
9 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
10 increased serum ferritin 58 31 frequent (33%) Frequent (79-30%) HP:0003281
11 restrictive deficit on pulmonary function testing 58 31 frequent (33%) Frequent (79-30%) HP:0002111
12 crackles 58 31 frequent (33%) Frequent (79-30%) HP:0030830
13 abnormality of the pleura 58 31 occasional (7.5%) Occasional (29-5%) HP:0002103
14 myocardial fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001685
15 abnormal breath sound 58 Occasional (29-5%)
16 abnormality of the hepatic vasculature 58 Frequent (79-30%)

Drugs & Therapeutics for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Search Clinical Trials , NIH Clinical Center for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome

Genetic Tests for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Anatomical Context for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

MalaCards organs/tissues related to Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome:

40
Bone, Bone Marrow, Liver, Testes

Publications for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Variations for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Expression for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Search GEO for disease gene expression data for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome.

Pathways for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

GO Terms for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

Sources for Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia...

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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