Hypertension, and Paraplegia

Diseases related with Hypertension and Paraplegia

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


Top matches:

Medium match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Medium match PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

Medium match VASCULITIS DUE TO ADA2 DEFICIENCY


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

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Other less relevant matches:

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY


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

Low match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY


X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Low match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Top 5 symptoms//phenotypes associated to Hypertension and Paraplegia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Urinary incontinence Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spastic paraplegia Hemiparesis Hearing impairment Global developmental delay Constipation Hypotension Vomiting Paraparesis Impotence Muscle weakness Behavioral abnormality Seizures Nystagmus Paresthesia Polyneuropathy Dementia Abnormality of the cerebral white matter Spastic paraparesis Peripheral demyelination Visual impairment Headache Myalgia Hepatosplenomegaly Renal insufficiency Orthostatic hypotension Abnormal cerebellum morphology Arrhythmia Tremor Gait disturbance Hypertonia Depressivity Encephalopathy Babinski sign Gait ataxia Rigidity Pain Mental deterioration Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases


Abnormal autonomic nervous system physiology Hallucinations Diarrhea Aphasia Agitation Cerebral hemorrhage Cutis marmorata Nephropathy Coma Vasculitis Foot dorsiflexor weakness Abnormality of the skeletal system Axonal degeneration Gliosis Arthritis Tachycardia Elevated hepatic transaminase Ileus Abdominal pain Dilatation Immunodeficiency Splenomegaly Fever Hepatomegaly Hyperlipidemia Anemia Progressive spastic paraparesis Urinary bladder sphincter dysfunction Psychomotor deterioration Retinal dystrophy Apathy Personality changes Cerebral cortical atrophy Urinary urgency Bowel incontinence Visual loss Corpus callosum atrophy Neurogenic bladder Orthostatic hypotension due to autonomic dysfunction Cervical spinal cord atrophy Cognitive impairment Cardiomyopathy Leukodystrophy Hirsutism Stage 5 chronic kidney disease Limb ataxia Tetraparesis Peripheral axonal neuropathy Congestive heart failure Reduced visual acuity Diabetes mellitus Dysphagia Intellectual disability, mild Dysarthria Hypogonadism Weight loss Blindness Nausea Psychosis Left ventricular hypertrophy Ventricular hypertrophy Cerebral palsy Hyperreflexia Abnormality of extrapyramidal motor function Bradykinesia Paralysis Ventricular septal defect Talipes equinovarus Hypothyroidism Difficulty walking Anxiety Confusion Hyperlordosis Atrioventricular block Rheumatoid arthritis Scoliosis Myelopathy Urinary retention Psychotic episodes Progressive cerebellar ataxia Lower limb muscle weakness Action tremor Limb muscle weakness Diaphragmatic paralysis Dysuria Abnormal urinary color Heat intolerance Cone monochromacy Elevated long chain fatty acids Pseudobulbar paralysis Atrophy of the spinal cord Hyperhidrosis Abnormality of the urinary system Abdominal distention Delirium Nausea and vomiting Leukoencephalopathy Spastic tetraparesis Cutaneous photosensitivity Anorexia Cranial nerve paralysis Hyponatremia Hepatocellular carcinoma Hypohidrosis Lethargy Carcinoma Progressive neurologic deterioration Arthralgia Progressive spasticity Insomnia Constrictive median neuropathy Paralytic ileus Hypertensive crisis Secondary amenorrhea Red urine Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Progressive proximal muscle weakness Protuberant abdomen IgA deficiency Lipoatrophy Prolonged QTc interval Spinal rigidity Reduced subcutaneous adipose tissue Prolonged QT interval Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Ventricular fibrillation Generalized lipodystrophy Atlantoaxial dislocation Hypoglycemia Generalized muscle hypertrophy Respiratory paralysis Blue cone monochromacy Elevated urinary delta-aminolevulinic acid Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Prominent umbilicus Dysmenorrhea Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Loss of subcutaneous adipose tissue in limbs Diffuse white matter abnormalities Decreased sweating due to autonomic dysfunction Diffuse leukoencephalopathy Slurred speech Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Migraine Hyperpigmentation of the skin Truncal ataxia Malabsorption Facial palsy Incoordination Neurodegeneration Lipodystrophy Abnormality of mitochondrial metabolism Hyporeflexia Areflexia Emotional lability Hydrocephalus Sensorineural hearing impairment Lafora bodies Cardiomegaly Cachexia Abnormality of central motor function Vitreous floaters Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Abnormal renal physiology Sensory ataxia Cardiac amyloidosis Malnutrition Decreased number of peripheral myelinated nerve fibers Amyloid deposition in the vitreous humor Edema Thrombocytopenia Pneumonia Hyperactivity EEG abnormality Attention deficit hyperactivity disorder Decreased/absent ankle reflexes Decreased urine output Autonomic bladder dysfunction Vegetative state Distal sensory impairment Tubular atrophy Achalasia Spinocerebellar tract degeneration Abnormality of metabolism/homeostasis Cerebellar atrophy Cerebral edema Decreased circulating aldosterone level Adrenal hypoplasia Hypoplasia of the corpus callosum Mania Ventriculomegaly Symmetric peripheral demyelination Stroke-like episode Dilatation of the bladder Monochromacy Autonomic erectile dysfunction Dyschromatopsia Limitation of joint mobility Erectile abnormalities Amyotrophic lateral sclerosis Abnormal upper motor neuron morphology Adrenal insufficiency Motor polyneuropathy CNS demyelination Hypomimic face Slow saccadic eye movements Abnormality of color vision Abnormality of the periventricular white matter Reduced tendon reflexes Sensory impairment EMG abnormality Bulbar palsy Skin ulcer Decreased liver function Progressive muscle weakness Primary adrenal insufficiency Loss of speech Lower limb spasticity Failure to thrive in infancy Osteopenia Hyperinsulinemia Uterine rupture Stroke Skin rash Abnormality of the liver Optic atrophy EMG: impaired neuromuscular transmission Focal myoclonic seizures Primary hyperaldosteronism Dexamethasone-suppresible primary hyperaldosteronism Abnormal circulating renin Second degree atrioventricular block Ophthalmoplegia Caesarian section Biventricular hypertrophy Decreased circulating renin level Metabolic alkalosis Alkalosis Adrenal hyperplasia Hyperaldosteronism Athetosis Focal impaired awareness seizure Polydipsia Papule Lymphadenopathy Patent foramen ovale Immune dysregulation Cataract Strabismus Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Hypercoagulability Decreased antibody level in blood Raynaud phenomenon Thrombocytosis Elevated erythrocyte sedimentation rate Combined immunodeficiency Leukocytosis Hemiplegia Ischemic stroke Leukopenia Purpura Pancytopenia Intracranial hemorrhage Hypokalemia High palate Dysphonia Limb dystonia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Brisk reflexes Spastic diplegia Postural tremor Obsessive-compulsive behavior Torticollis Focal dystonia Horizontal nystagmus Involuntary movements Parkinsonism Sleep disturbance Abnormality of movement Irritability Pes cavus Dystonia Fatigue Motor delay Generalized dystonia Upper motor neuron dysfunction Tinnitus Paresis of extensor muscles of the big toe Cerebral visual impairment Nephrolithiasis Epistaxis Pulmonary arterial hypertension Spastic tetraplegia Generalized-onset seizure Tetraplegia Generalized tonic-clonic seizures Abnormality of the nervous system Intellectual disability, severe Decreased CSF homovanillic acid Torsion dystonia Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Cryptorchidism Delayed speech and language development Prominent supraorbital ridges Delayed skeletal maturation Hepatic steatosis Muscular dystrophy Distal muscle weakness Joint stiffness Protruding ear Postnatal growth retardation Proximal muscle weakness Neonatal hypotonia Osteoporosis Elevated serum creatine phosphokinase Sudden cardiac death Recurrent infections Myopathy Feeding difficulties Flexion contracture Failure to thrive Generalized hypotonia Septate vagina Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Generalized muscle weakness Growth hormone deficiency Tapetoretinal degeneration Recurrent bacterial infections Pyloric stenosis Polycystic ovaries Ventricular arrhythmia Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Pancreatitis Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Exercise intolerance Epidermal acanthosis Pointed chin Muscle stiffness Bradycardia Sparse and thin eyebrow Insulin resistance Long eyelashes Thin skin Palpitations Hypertriglyceridemia Atrial fibrillation Microphallus Menstrual irregularities Brachydactyly Neurological speech impairment Decreased testicular size Asthma Hypodontia Short foot High, narrow palate Postaxial polydactyly Iris coloboma Retinal degeneration Astigmatism Pulmonic stenosis Retinopathy Amenorrhea Coloboma Abnormality of the kidney Micropenis Polydactyly Glaucoma Rod-cone dystrophy Obesity Syndactyly Macrocephaly Myopia Specific learning disability Pigmentary retinopathy Vaginal atresia Hypoplasia of the uterus Abnormality of the ovary Gait imbalance Undetectable electroretinogram Broad foot Poor coordination Foot polydactyly Nephronophthisis Truncal obesity External genital hypoplasia Macular dystrophy Tricuspid regurgitation Postaxial hand polydactyly Radial deviation of finger Clubbing Anosmia Bicuspid aortic valve Situs inversus totalis Hepatic fibrosis Dental crowding Aganglionic megacolon Abnormality of the genital system Primary amenorrhea Acute episodes of neuropathic symptoms



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