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Familial pulmonary capillary hemangiomatosis(PVOD2)

MedGen UID:: 90956
•Concept ID:: C0340848
•: Disease or Syndrome

Synonyms:	Pulmonary venoocclusive disease 2; Pulmonary venoocclusive disease 2, autosomal recessive; PVOD2
SNOMED CT:	Familial pulmonary capillary hemangiomatosis (234161007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same 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 Source: 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 genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	EIF2AK4 (15q15.1)

Monarch Initiative:	MONDO:0009329
OMIM®:	234810
Orphanet:	ORPHA199241

Definition

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). [from OMIM]

Clinical features

From HPO

Chronic fatigue

MedGen UID:: 760077
•Concept ID:: C0518656
•: Finding

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.

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Pulmonary capillary hemangiomatosis

MedGen UID:: 87404
•Concept ID:: C0340548
•: Disease or Syndrome

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Pulmonary arterial hypertension

MedGen UID:: 425404
•Concept ID:: C2973725
•: Disease or Syndrome

Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.

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Pulmonary venous occlusion

MedGen UID:: 907103
•Concept ID:: C4280802
•: Finding

Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.

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Cough

MedGen UID:: 41325
•Concept ID:: C0010200
•: Sign or Symptom

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.

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Dyspnea

MedGen UID:: 3938
•Concept ID:: C0013404
•: Sign or Symptom

Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

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Decreased DLCO

MedGen UID:: 892993
•Concept ID:: C4073175
•: Finding

Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.

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Centrilobular ground-glass opacification on pulmonary HRCT

MedGen UID:: 1383497
•Concept ID:: C4476640
•: Finding

A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.

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Mediastinal lymphadenopathy

MedGen UID:: 451062
•Concept ID:: C0520743
•: Disease or Syndrome

Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.

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Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
- Pulmonary venous occlusion
Abnormality of the respiratory system
Abnormality of the thoracic cavity
- Mediastinal lymphadenopathy
Constitutional symptom
- Chronic fatigue
Neoplasm
- Pulmonary capillary hemangiomatosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPulmonary venoocclusive disease
- CROGVFamilial pulmonary capillary hemangiomatosis
- CROGVPulmonary venoocclusive disease 1

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
- Familial pulmonary capillary hemangiomatosis

Recent clinical studies

Therapy

Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension.

Langleben D, Heneghan JM, Batten AP, Wang NS, Fitch N, Schlesinger RD, Guerraty A, Rouleau JL
Ann Intern Med 1988 Jul 15;109(2):106-9. doi: 10.7326/0003-4819-109-2-106. PMID: 3382104

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Familial pulmonary capillary hemangiomatosis(PVOD2)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Therapy

Supplemental Content

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