Hypertension, and Leukodystrophy

Diseases related with Hypertension and Leukodystrophy

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

Top matches:

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

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Other less relevant matches:

Medium match COATS PLUS SYNDROME

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match KEUTEL SYNDROME

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

Top 5 symptoms//phenotypes associated to Hypertension and Leukodystrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Cerebral calcification Nystagmus Growth delay Short stature Failure to thrive Abnormal pyramidal sign Peripheral demyelination Abnormal autonomic nervous system physiology Dysarthria Tremor Constipation Generalized hypotonia Portal hypertension Intrauterine growth retardation Esophageal varix Hypotension Leukoencephalopathy Gait disturbance Hyperreflexia Osteopenia Dystonia Strabismus Cerebral atrophy Optic atrophy Cryptorchidism Motor delay Hepatomegaly Vomiting Abnormality of the cerebral white matter Splenomegaly

Rare Symptoms - Less than 30% cases

Myoclonus Kyphosis Underdeveloped nasal alae Orthostatic hypotension Tetraplegia Hypoplasia of the corpus callosum High palate Abnormal facial shape Hypogonadism Respiratory failure Hydrocephalus Dementia Depressivity Decreased nerve conduction velocity Hypohidrosis Hyporeflexia Proteinuria Retinopathy Sparse hair Mental deterioration Osteoporosis Midface retrusion Scoliosis Sloping forehead Corpus callosum atrophy Spastic paraparesis Hypertonia Babinski sign Hypoglycemia Muscle weakness Ptosis Feeding difficulties Hemiparesis Dysphagia Decreased lacrimation Hyperhidrosis Microcephaly Diarrhea Muscle stiffness Abnormality of the vasculature Retinal telangiectasia Intellectual disability, mild Atherosclerosis Emotional lability Pulmonary arterial hypertension Chorea Bowel incontinence Hypothermia Progressive spasticity Weight loss Arrhythmia Hepatosplenomegaly Developmental regression Premature graying of hair Anemia Gliosis Muscular hypotonia Gastrointestinal hemorrhage Intellectual disability, severe Abnormality of eye movement Peripheral neuropathy Cirrhosis Sensorineural hearing impairment Telangiectasia Sleep disturbance Neoplasm Recurrent singultus Ventricular septal defect Depressed nasal bridge Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Shortening of all distal phalanges of the fingers Short nail Mandibular prognathia Diffuse demyelination of the cerebral white matter Microcoria Papillary thyroid carcinoma Abdominal aortic aneurysm Renal insufficiency Micropenis Severe short stature Calcification of the auricular cartilage Obstructive lung disease Cartilaginous ossification of larynx Flexion contracture Arterial calcification Calcification of cartilage Cataract Hyperpigmented nevi Tracheal atresia Soft, doughy skin Costal cartilage calcification Pulmonary artery hypoplasia Asthma Peripheral pulmonary artery stenosis Short distal phalanx of finger Carcinoma Respiratory tract infection Cutis laxa Hypotrichosis Pulmonic stenosis Infertility Long face Spontaneous abortion Hydronephrosis Abnormality of the pinna Sinusitis Short thumb Short phalanx of finger Recurrent otitis media Memory impairment Wide nose Otitis media Progressive hearing impairment Macrotia Thyroid carcinoma Malar flattening Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Chronic sinusitis Pulmonary artery stenosis Epiphyseal stippling Recurrent sinusitis Mixed hearing impairment Growth abnormality Emphysema Aortic aneurysm Nasal speech Dilatation Dermal atrophy Alopecia Deep philtrum Recurrent respiratory infections Irregular vertebral endplates CNS demyelination Hypermetropia Decreased CSF homovanillic acid Confusion Lower limb muscle weakness Paraplegia Limb muscle weakness Rigidity Cerebral cortical atrophy Visual loss Encephalopathy Intermittent hypothermia Vitreomacular adhesion Temperature instability Progressive cerebellar ataxia Nasal obstruction Miosis Limb hypertonia Insomnia Limb dystonia Hypokinesia Agitation Athetosis Hyperkinesis Drooling Abnormal cerebellum morphology Urinary incontinence Abnormality of the face Neurogenic bladder Decreased sweating due to autonomic dysfunction Dilatation of the bladder Cervical spinal cord atrophy Autonomic erectile dysfunction Autonomic bladder dysfunction Diffuse leukoencephalopathy Orthostatic hypotension due to autonomic dysfunction Diffuse white matter abnormalities Atrophy of the spinal cord Pseudobulbar paralysis Heat intolerance Tetraparesis Action tremor Urinary urgency Impotence Personality changes Apathy Abnormality of the urinary system Spastic tetraparesis Paraparesis Limb ataxia Progressive neurologic deterioration Cardiac arrest Choreoathetosis Carious teeth Large hands Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Atypical scarring of skin Severe postnatal growth retardation Abnormality of visual evoked potentials Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Neoplasm of the skin Menstrual irregularities Opacification of the corneal stroma Knee flexion contracture Anorexia Cutaneous photosensitivity Pigmentary retinopathy Dental malocclusion Limitation of joint mobility Polyneuropathy Abnormality of skin pigmentation Dry skin Dry hair Hypoplasia of teeth Cyanosis Ivory epiphyses of the phalanges of the hand Syncope Lethargy Irritability Feeding difficulties in infancy Muscular hypotonia of the trunk Gastroesophageal reflux Fatigue Pain Thymic hormone decreased Patchy demyelination of subcortical white matter Peripheral dysmyelination Pseudobulbar signs Square pelvis bone Slender nose Increased cellular sensitivity to UV light Severe photosensitivity Normal pressure hydrocephalus Loss of facial adipose tissue Chorioretinitis Retinal pigment epithelial mottling Delayed eruption of primary teeth Abnormal auditory evoked potentials Progressive macrocephaly Short neck Large face Blue irides White eyelashes Alacrima Intestinal pseudo-obstruction Ileus White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Abnormal eyebrow morphology Microcolon Hypopigmentation of hair Congenital nystagmus Intestinal obstruction CNS hypomyelination Anosmia Hypopigmented skin patches Torticollis Aganglionic megacolon White eyebrow Cerebral dysmyelination Coma Blindness Recurrent fractures Abnormality of movement Genu valgum Nail dystrophy Small for gestational age Abnormality of the liver Postnatal growth retardation Thrombocytopenia Spasmus nutans Spotty hyperpigmentation Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Spastic tetraplegia Hypopigmentation of the skin Febrile seizures Ascites Malnutrition Cachexia Hypercholesterolemia Hyperlipidemia Increased body weight Hepatic fibrosis Hypertriglyceridemia Abdominal distention Hepatic steatosis Protuberant abdomen Hepatic failure Malabsorption Scarring Jaundice Umbilical hernia Hernia Fever Pancytopenia Steatorrhea Abnormality of lipid metabolism Distal sensory impairment Pes cavus Distal amyotrophy Arthrogryposis multiplex congenita Prominent nasal bridge Distal muscle weakness Telecanthus Abnormality of the nervous system Neonatal hypotonia Abdominal pain Areflexia Acute hepatic failure Myopia Wide nasal bridge Adrenal calcification Bone-marrow foam cells Periportal fibrosis Low-grade fever Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Nail dysplasia Abnormality of extrapyramidal motor function Hypersomnia Macrocephaly Hyperlordosis Facial palsy EEG abnormality Hypothyroidism Diabetes mellitus Agenesis of corpus callosum Respiratory insufficiency Frontal bossing Cognitive impairment Neurological speech impairment Hypertensive crisis Diffuse mesangial sclerosis Hand clenching Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Cough Nausea and vomiting Hypocalcemia Dysphasia Aqueductal stenosis Bulbar signs Megalencephaly Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Oral-pharyngeal dysphagia Dysmetria Self-injurious behavior Precocious puberty Encephalitis Dysphonia Sleep apnea Clonus Diplopia Amenorrhea Sudden cardiac death Lissencephaly Postnatal microcephaly Thin skin Metaphyseal sclerosis Delayed speech and language development Low-set ears Micrognathia Hypertelorism Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal exudate Intestinal bleeding Epicanthus Morphological abnormality of the pyramidal tract Oral leukoplakia Calcinosis Hematochezia Pathologic fracture Short femoral neck Hemiplegia Increased susceptibility to fractures Bone marrow hypocellularity Visual impairment Downslanted palpebral fissures Pachygyria Hip dislocation Coarctation of aorta Nephrotic syndrome Oligohydramnios Narrow forehead Convex nasal ridge Ichthyosis Stage 5 chronic kidney disease Arachnodactyly Coloboma Ventriculomegaly Camptodactyly Deeply set eye Narrow mouth Cerebellar hypoplasia Pectus excavatum Microphthalmia Cerebellar atrophy Edema Anteverted nares Symmetric peripheral demyelination


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Arrhythmia, related diseases and genetic alterations Low-set ears and Wide nasal bridge, related diseases and genetic alterations Cryptorchidism and Gait ataxia, related diseases and genetic alterations Strabismus and Subcutaneous nodule, related diseases and genetic alterations