Hepatomegaly, and Telangiectasia

Diseases related with Hepatomegaly and Telangiectasia

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Telangiectasia that can help you solving undiagnosed cases.

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

NEUROENDOCRINE TUMOR OF STOMACH Is also known as gnet|net of stomach|gastric net|gastric neuroendocrine tumor

Related symptoms:

  • Hepatomegaly
  • Weight loss
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Hepatic failure


SOURCES: ORPHANET MENDELIAN

More info about NEUROENDOCRINE TUMOR OF STOMACH

Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM

Other less relevant matches:

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Medium match REYNOLDS SYNDROME

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Medium match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Telangiectasia

Symptoms // Phenotype % cases
Hypotension Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Telangiectasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ascites Scleroderma Muscle weakness Thrombocytopenia Skin rash Telangiectasia of the skin

Rare Symptoms - Less than 30% cases

Myalgia Congestive heart failure Headache Papule Capillary hemangioma Raynaud phenomenon Splenomegaly Edema Dyspnea Vertigo Acute leukemia Pruritus Pulmonary arterial hypertension Renal insufficiency Lymphadenopathy Malabsorption Seizures Erythema Gastroesophageal reflux Delayed puberty Abnormality of the gastric mucosa Global developmental delay Gastrointestinal hemorrhage Leukemia Sudden cardiac death Arthralgia Right ventricular failure Nausea and vomiting Elevated hepatic transaminase Weight loss Proteinuria Recurrent respiratory infections Immunodeficiency Palpitations Calcinosis Lip telangiectasia Biliary cirrhosis Antinuclear antibody positivity Lichenification Mucosal telangiectasiae Sclerodactyly Esophageal varix Wide nasal bridge Palmar telangiectasia Irregular hyperpigmentation Calcinosis cutis Generalized abnormality of skin Neoplasm Anemia Diarrhea Arrhythmia Osteoporosis Abdominal pain Biparietal narrowing Hepatosplenomegaly Xerostomia Elevated alkaline phosphatase Keratoconjunctivitis sicca Bird-like facies Pulmonary fibrosis Truncal obesity Achilles tendon contracture Heat intolerance Poikiloderma Thin eyebrow Erysipelas Mottled pigmentation Fever Dysphagia Respiratory insufficiency Abnormality of bone marrow cell morphology Elevated erythrocyte sedimentation rate Jaundice Abnormality of chromosome stability Arthritis Abnormality of the liver Severe combined immunodeficiency Cholestasis Skin ulcer Hyperbilirubinemia Encephalitis Leukocytosis Steatorrhea Combined immunodeficiency Ichthyosis Psoriasiform dermatitis Cutaneous mastocytosis Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Impaired temperature sensation Hypothyroidism Abnormal eosinophil morphology Food intolerance Mastocytosis Dermatographic urticaria Brachycephaly Anaphylactic shock Abnormality of the nervous system Chronic leukemia Telangiectasia macularis eruptiva perstans Intellectual disability Microcephaly Growth delay Upslanted palpebral fissure Clinodactyly of the 5th finger Recurrent infections Abnormality of the skeletal system Micrognathia Cryptorchidism Delayed speech and language development Generalized osteosclerosis Telecanthus Epicanthus Urticaria Nausea Tachycardia Recurrent fractures Asthma Abnormal blistering of the skin Bone pain Bone marrow hypocellularity Osteolysis Leukopenia Shock Myelodysplasia Sarcoma Portal hypertension Thin vermilion border Loss of consciousness Low anterior hairline Hypermelanotic macule Abnormality of blood and blood-forming tissues Hypohidrosis Cutaneous photosensitivity Type II diabetes mellitus Pancytopenia Flushing Hypoplasia of penis Lymphoma Allergy Clubbing Generalized amyotrophy Fine hair Varicocele Lower limb muscle weakness Migraine Abnormality of the skin Focal-onset seizure Cerebral calcification Hemangioma Intracranial hemorrhage Cerebral hemorrhage Abnormality of the musculature Cavernous hemangioma Neuritis Venous malformation Retrobulbar optic neuritis Paralysis Retinal vascular malformation Hepatic vascular malformations Respiratory distress Cough Chest pain Cyanosis Cardiomegaly Epistaxis Ventricular hypertrophy Abnormal lung morphology Hoarse voice Hemoptysis Acrocyanosis Stroke Dermatological manifestations of systemic disorders Edema of the lower limbs Chronic noninfectious lymphadenopathy Decreased antibody level in blood Recurrent bacterial infections Purpura Glomerulonephritis Hepatic failure Anorexia Tricuspid regurgitation Iron deficiency anemia Poor appetite Episodic abdominal pain Paraganglioma Carcinoid tumor Increased circulating ACTH level Atypical pulmonary carcinoid tumor Increased serum serotonin Hematemesis Intermittent diarrhea Melena Protracted diarrhea Bloody diarrhea Facial telangiectasia Cardiogenic shock Bronchospasm Zollinger-Ellison syndrome Lack of bowel sounds Bowel urgency Abnormal pulmonary valve cusp morphology Right ventricular hypertrophy Abnormal thrombosis Nail dysplasia Aplasia/Hypoplasia of the cerebellum Intellectual disability, severe Myoclonus Hyperkeratosis Autism Hypertrophic cardiomyopathy Developmental regression Abnormal pyramidal sign Paresthesia Sensory neuropathy Abnormality of extrapyramidal motor function Lymphedema Cerebral visual impairment Hemiplegia/hemiparesis Peripheral neuropathy Abnormality of brainstem morphology Scoliosis Cataract Flexion contracture Skeletal muscle atrophy Gait disturbance Myopathy Obesity Elevated serum creatine phosphokinase Alopecia Pneumonia Hyperhidrosis Hypopigmentation of the skin Optic atrophy Spasticity Abnormal tricuspid valve morphology Metabolic acidosis Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Pulmonary capillary hemangiomatosis Elevated right atrial pressure Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Hypoglycemia Lactic acidosis Hematuria Hyperlipidemia Muscular hypotonia Focal segmental glomerulosclerosis Hepatocellular carcinoma Gout Xanthomatosis Xanthelasma Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Spider hemangioma Ketonemia Hearing impairment Nystagmus Strabismus Large beaked nose


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Unsteady gait, related diseases and genetic alterations Rod-cone dystrophy and Hypertrichosis, related diseases and genetic alterations