Hypertension, and Pancytopenia

Diseases related with Hypertension and Pancytopenia

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

Top matches:

Related symptoms:

  • Anemia
  • Hypertension
  • Hepatomegaly
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Other less relevant matches:

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Hypertension and Pancytopenia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Pancytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy Leukopenia Portal hypertension Immunodeficiency Recurrent infections Pneumonia Feeding difficulties Failure to thrive Global developmental delay Decreased antibody level in blood Generalized hypotonia Pulmonary arterial hypertension Ophthalmoplegia Proteinuria Thrombocytopenia Intellectual disability Sensorineural hearing impairment Arthritis Abnormal lung morphology Intrauterine growth retardation Hepatomegaly Splenomegaly Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the liver Osteopenia Interstitial pulmonary abnormality

Rare Symptoms - Less than 30% cases

Optic atrophy Abnormality of the eye Microcephaly Metabolic acidosis Bilateral sensorineural hearing impairment Recurrent urinary tract infections Combined immunodeficiency Thrombocytosis Megaloblastic anemia Hemolytic-uremic syndrome Decreased methylcobalamin Muscle weakness Cataract Visual impairment Congestive heart failure Acidosis Pigmentary retinopathy Dementia Pain Hemiplegia Aseptic necrosis Hyperpigmentation of the skin Abnormality of skin pigmentation Retinal degeneration Hematuria Unsteady gait Malabsorption Osteoporosis Hepatic steatosis Mental deterioration Myalgia Respiratory insufficiency Renal insufficiency Gastrointestinal hemorrhage Aplastic anemia Fever Cerebral calcification Vomiting Bone marrow hypocellularity Neutropenia Lymphopenia Spasticity Premature graying of hair Panniculitis Generalized myoclonic seizures Neurological speech impairment Decreased adenosylcobalamin Bruising susceptibility Delayed puberty Hydrops fetalis Decreased methionine synthase activity Epistaxis Aciduria Bone pain Aspiration Dyspnea Increased bone mineral density Osteolysis Shock Urogenital fistula Hyperkinesis Increased susceptibility to fractures Stridor Delirium Oral-pharyngeal dysphagia Increased antibody level in blood Pericardial effusion Hyperhomocystinemia Delayed skeletal maturation Vitamin B12 deficiency Hodgkin lymphoma Cerebellar hypoplasia Cystathioninemia Diffuse hepatic steatosis Nail dystrophy Dry skin Decreased methylmalonyl-CoA mutase activity Lymphoma Nail dysplasia Fine hair Hypomethioninemia Abnormal intestine morphology Epiphora Pulmonary fibrosis Cystathioninuria Recurrent respiratory infections Oral leukoplakia Esophageal stricture Phimosis Reticulated skin pigmentation Pulmonary hemorrhage Strabismus Gait disturbance Fatigue Dysphagia Abnormality of the skeletal system Respiratory distress Edema Encephalopathy Macular atrophy Pathologic fracture Chronic hemolytic anemia Pulmonary infiltrates Smooth philtrum Cor pulmonale Thromboembolism Difficulty walking Feeding difficulties in infancy Disproportionate tall stature Hip dislocation Lethargy Apathy Ectopia lentis Congenital cataract Slurred speech Lower limb muscle weakness Confusion High forehead Atherosclerosis Paresthesia Long face Joint hypermobility Abnormality of retinal pigmentation Hemolytic anemia Anorexia Broad-based gait Psychosis Abnormality of extrapyramidal motor function Memory impairment Nephropathy Urinary incontinence Macrotia Reduced visual acuity Aspiration pneumonia Nystagmus Abnormality of macular pigmentation Vertebral compression fractures Methylmalonic acidemia Atrophy of the spinal cord Chronic fatigue Multiple myeloma Abnormal myocardium morphology Hypersplenism Vertical supranuclear gaze palsy Aortic valve calcification Mitral valve calcification Erlenmeyer flask deformity of the femurs Abnormal facial shape Methylmalonic aciduria Muscular hypotonia Low-set ears Tremor Hydrocephalus Intellectual disability, severe Depressivity Right ventricular failure Cerebral cortical atrophy Gastritis Myelopathy Weight loss Gait ataxia Homocystinuria Alopecia Peripheral neuropathy Delayed speech and language development Dysarthria Abnormal natural killer cell morphology Intellectual disability, mild Pallor Autoimmunity Macrocytic anemia Severe combined immunodeficiency Antinuclear antibody positivity Anisocytosis Folate deficiency Asthenia Septic arthritis Thiamine-responsive megaloblastic anemia Ptosis Cardiomyopathy Monocytopenia Myopathy Arrhythmia Constipation Diabetes mellitus Hypertrophic cardiomyopathy Abnormality of the kidney Vertigo Type II diabetes mellitus External ophthalmoplegia Ragged-red muscle fibers Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Hyperglycemia Recurrent mycobacterium avium complex infections Chronic myelomonocytic leukemia Vestibular dysfunction Otitis media Jaundice Hepatic failure Hepatic fibrosis Abnormality of the coagulation cascade Iron deficiency anemia Dystonia Telangiectasia Leukodystrophy Abnormality of the vasculature Esophageal varix Retinal telangiectasia Hypothyroidism Leukemia Nephrotic syndrome Severe viral infections Recurrent otitis media Lymphedema Spontaneous abortion Venous thrombosis Myelodysplasia Myeloid leukemia Acute myeloid leukemia Severe sensorineural hearing impairment Recurrent viral infections Verrucae B lymphocytopenia Recurrent fungal infections Alveolar proteinosis Bundle branch block Macular dystrophy Cryptorchidism Leukocytosis Abdominal pain Skin rash Stroke Papule Paraplegia Lymphadenopathy Hemiparesis Foot dorsiflexor weakness Vasculitis Purpura Ischemic stroke Cutis marmorata Cerebral hemorrhage Agitation Headache Aphasia Elevated erythrocyte sedimentation rate Raynaud phenomenon Hypercoagulability Immune dysregulation Granulocytopenia Erythema nodosum Antiphospholipid antibody positivity Pure red cell aplasia Lupus anticoagulant Retinal arterial occlusion Central retinal artery occlusion Short stature Dilatation Small scrotum Abnormal retinal morphology Joint laxity Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology High palate Cerebral atrophy Hernia Inguinal hernia Gastroesophageal reflux Hypoglycemia Deeply set eye Cough Vitamin A deficiency Abnormality of eye movement Cirrhosis Ascites Oligohydramnios Cholestasis Decreased liver function Hypocalcemia Tachypnea Hypoalbuminemia Rickets Bile duct proliferation Vitamin D deficiency Anasarca Thyroglossal cyst


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