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Pulmonary capillary hemangiomatosis

MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Synonyms: Pulmonary hemangiomas
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Pulmonary capillary hemangiomatosis (233949008)
 
HPO: HP:0005954
Orphanet: ORPHA199241

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPulmonary capillary hemangiomatosis
Follow this link to review classifications for Pulmonary capillary hemangiomatosis in Orphanet.

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Familial pulmonary capillary hemangiomatosis
MedGen UID:
90956
Concept ID:
C0340848
Disease or Syndrome
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).

Recent clinical studies

Etiology

Ogawa A, Miyaji K, Matsubara H
Respir Med 2017 Oct;131:215-219. Epub 2017 Sep 12 doi: 10.1016/j.rmed.2017.08.032. PMID: 28947033
Ortiz-Bautista C, Hernández-González I, Escribano-Subías P
Med Clin (Barc) 2017 Mar 22;148(6):265-270. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.031. PMID: 28118962
Carmona S, Loureiro MJ, Santos J, Oliveira A, Camacho R, Santos AI
Rev Esp Med Nucl Imagen Mol 2013 Mar;32(2):98-101. Epub 2012 Sep 12 doi: 10.1016/j.remn.2012.06.009. PMID: 22981217
Frazier AA, Franks TJ, Mohammed TL, Ozbudak IH, Galvin JR
Radiographics 2007 May-Jun;27(3):867-82. doi: 10.1148/rg.273065194. PMID: 17495297
Assaad AM, Kawut SM, Arcasoy SM, Rosenzweig EB, Wilt JS, Sonett JR, Borczuk AC
Chest 2007 Mar;131(3):850-855. doi: 10.1378/chest.06-1680. PMID: 17356103

Diagnosis

Park MA, Shin SY, Kim YJ, Park MJ, Lee SH
Medicine (Baltimore) 2017 Nov;96(47):e8853. doi: 10.1097/MD.0000000000008853. PMID: 29381997Free PMC Article
Chaisson NF, Dodson MW, Elliott CG
Clin Chest Med 2016 Sep;37(3):523-34. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.014. PMID: 27514598
Odronic SI, Narula T, Budev M, Farver C
Ann Diagn Pathol 2015 Jun;19(3):149-53. Epub 2015 Mar 20 doi: 10.1016/j.anndiagpath.2015.03.006. PMID: 25886868
O'Keefe MC, Post MD
Arch Pathol Lab Med 2015 Feb;139(2):274-7. doi: 10.5858/arpa.2013-0500-RS. PMID: 25611112
Carmona S, Loureiro MJ, Santos J, Oliveira A, Camacho R, Santos AI
Rev Esp Med Nucl Imagen Mol 2013 Mar;32(2):98-101. Epub 2012 Sep 12 doi: 10.1016/j.remn.2012.06.009. PMID: 22981217

Therapy

Ogawa A, Miyaji K, Matsubara H
Respir Med 2017 Oct;131:215-219. Epub 2017 Sep 12 doi: 10.1016/j.rmed.2017.08.032. PMID: 28947033
Koyama M, Yano T, Kikuchi K, Mizuno M, Nagano N, Hashimoto A, Miura T
Int J Cardiol 2016 Jun 1;212:245-7. Epub 2016 Mar 24 doi: 10.1016/j.ijcard.2016.03.118. PMID: 27045880
Adachi S, Hirashiki A, Kondo T, Nakaguro M, Ogawa A, Miyaji K, Matsubara H, Yokoi T, Murohara T
Intern Med 2014;53(6):603-7. PMID: 24633031
Ogawa A, Miyaji K, Yamadori I, Shinno Y, Miura A, Kusano KF, Ito H, Date H, Matsubara H
Circ J 2012;76(7):1729-36. Epub 2012 Apr 5 PMID: 22481098
McGuire F, Kennelly T, Tillack T, Robbins M
Respiration 2010;80(5):435-8. Epub 2010 May 6 doi: 10.1159/000314587. PMID: 20453487

Prognosis

Ogawa A, Miyaji K, Matsubara H
Respir Med 2017 Oct;131:215-219. Epub 2017 Sep 12 doi: 10.1016/j.rmed.2017.08.032. PMID: 28947033
Bal SK, Thangakunam B, Irodi A, Gupta M, Christopher DJ
J Bronchology Interv Pulmonol 2016 Oct;23(4):308-315. doi: 10.1097/LBR.0000000000000320. PMID: 27623416
Koyama M, Yano T, Kikuchi K, Mizuno M, Nagano N, Hashimoto A, Miura T
Int J Cardiol 2016 Jun 1;212:245-7. Epub 2016 Mar 24 doi: 10.1016/j.ijcard.2016.03.118. PMID: 27045880
O'Keefe MC, Post MD
Arch Pathol Lab Med 2015 Feb;139(2):274-7. doi: 10.5858/arpa.2013-0500-RS. PMID: 25611112
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
Cardiovasc Pathol 2013 Jul-Aug;22(4):287-93. Epub 2013 Jan 10 doi: 10.1016/j.carpath.2012.12.002. PMID: 23312620

Clinical prediction guides

Ogawa A, Miyaji K, Matsubara H
Respir Med 2017 Oct;131:215-219. Epub 2017 Sep 12 doi: 10.1016/j.rmed.2017.08.032. PMID: 28947033
Adachi S, Hirashiki A, Kondo T, Nakaguro M, Ogawa A, Miyaji K, Matsubara H, Yokoi T, Murohara T
Intern Med 2014;53(6):603-7. PMID: 24633031
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
Cardiovasc Pathol 2013 Jul-Aug;22(4):287-93. Epub 2013 Jan 10 doi: 10.1016/j.carpath.2012.12.002. PMID: 23312620
Wang KY, Tanimoto A, Inenaga T, Yamada S, Shimajiri S, Ding Y, Guo X, Sasaguri Y
J UOEH 2009 Dec 1;31(4):339-44. PMID: 20000007
Kradin R, Matsubara O, Mark EJ
Exp Mol Pathol 2005 Dec;79(3):194-7. Epub 2005 Oct 21 doi: 10.1016/j.yexmp.2005.08.010. PMID: 16246326

Recent systematic reviews

Odronic SI, Narula T, Budev M, Farver C
Ann Diagn Pathol 2015 Jun;19(3):149-53. Epub 2015 Mar 20 doi: 10.1016/j.anndiagpath.2015.03.006. PMID: 25886868
Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP, Elliott CG, Gaine SP, Gladwin MT, Jing ZC, Krowka MJ, Langleben D, Nakanishi N, Souza R
J Am Coll Cardiol 2009 Jun 30;54(1 Suppl):S43-54. doi: 10.1016/j.jacc.2009.04.012. PMID: 19555858
Liu C, Chen J
Cochrane Database Syst Rev 2006 Jul 19;(3):CD004434. doi: 10.1002/14651858.CD004434.pub3. PMID: 16856046

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