Hypertension, and Pes cavus

Diseases related with Hypertension and Pes cavus

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


Top matches:

Medium match MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY


MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome|myh7-related late-onset spmd

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Gait disturbance
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Medium match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

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

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Other less relevant matches:

Medium match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


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

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J


Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J Is also known as charcot-marie-tooth neuropathy, type 2j|cmt2j|charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1


Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Hypertension and Pes cavus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Peripheral neuropathy Distal sensory impairment Distal amyotrophy Skeletal muscle atrophy Brisk reflexes Rheumatoid arthritis Torticollis Hypothyroidism Depressivity Nystagmus Myopia Pain Hepatomegaly Global developmental delay Muscle weakness Distal muscle weakness Hyporeflexia Areflexia Sensorineural hearing impairment Generalized hypotonia Fatigue Polyneuropathy Difficulty walking

Rare Symptoms - Less than 30% cases


Mental deterioration Neuropathic arthropathy Cardiomegaly Osteopenia Hyperlordosis Telecanthus Motor delay Spasticity EMG: myopathic abnormalities Paresis of extensor muscles of the big toe Abnormality of the skin Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Focal dystonia Generalized dystonia Irritability Abnormal pyramidal sign Impaired vibration sensation in the lower limbs Arthropathy Paresthesia Abnormality of the liver Arthralgia Steppage gait Anemia Anosmia Spastic paraparesis Hypotension Abnormal autonomic nervous system physiology Hypohidrosis Peripheral demyelination Abnormality of the eye Cough Peripheral axonal neuropathy Wide nasal bridge Limb dystonia Abnormality of the substantia nigra Lower limb hyperreflexia Hypoplasia of the maxilla Retinopathy Visual loss Congestive heart failure Elevated serum creatine phosphokinase Chronic axonal neuropathy Growth delay Pes planus Decreased number of large peripheral myelinated nerve fibers Osteolysis Reduced tendon reflexes Recurrent infections Scoliosis Ataxia Respiratory insufficiency Muscular hypotonia Foot dorsiflexor weakness Sleep disturbance Postural tremor Obsessive-compulsive behavior Horizontal nystagmus Abnormality of extrapyramidal motor function Gait ataxia Parkinsonism Bradykinesia Anxiety Muscle cramps Rigidity White eyelashes Spasmus nutans Demyelinating peripheral neuropathy Long-segment aganglionic megacolon White forelock Ileus Myelin outfoldings Hypoplasia of the semicircular canal Intestinal pseudo-obstruction Alacrima White eyebrow Meconium ileus Microcolon Absent brainstem auditory responses Neonatal asphyxia Distal sensory loss of all modalities Dysmyelinating leukodystrophy Cerebral dysmyelination Decreased lacrimation Spotty hyperpigmentation Peripheral hypomyelination Hypoplasia of the cochlea White hair Paralysis Heterochromia iridis Foot osteomyelitis Neonatal hypotonia Hepatosplenomegaly Abdominal pain Hypogonadism Myoclonus Constipation Splenomegaly Prominent nasal bridge Intellectual disability, severe Cryptorchidism Seizures Osteolysis involving tarsal bones Wrist swelling Carpal osteolysis Metatarsal osteolysis Abnormality of the nervous system Arthrogryposis multiplex congenita Blue irides Decreased nerve conduction velocity Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension CNS hypomyelination Hypopigmentation of the skin Hypopigmented skin patches Leukodystrophy Civatte bodies Aganglionic megacolon Spastic tetraplegia Underdeveloped nasal alae Coma Tetraplegia Smooth philtrum Short stature Sensory impairment Restless legs Axonal loss Orthostatic hypotension Progressive sensorineural hearing impairment Impotence Decreased motor nerve conduction velocity Progressive hearing impairment Urinary incontinence Aseptic necrosis Vomiting Dysphagia Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Vocal cord paralysis Pathologic fracture Tendon rupture Anisocoria Hyperhidrosis Dementia Microcephaly Tonic pupil Axonal regeneration Mild hearing impairment Axonal degeneration/regeneration Abnormal pupil morphology Osteomyelitis Abnormality of the respiratory system Severe sensorineural hearing impairment Onion bulb formation Sensory neuropathy Abnormal blistering of the skin Paraparesis Hammertoe Anhidrosis Hypoplasia of the tooth germ Dentinogenesis imperfecta limited to primary teeth Abnormal facial shape Broad forehead Cutaneous photosensitivity Waddling gait Generalized muscle weakness Gastroesophageal reflux Genu valgum Carious teeth Hip dislocation Joint laxity Aortic valve stenosis Thin upper lip vermilion Glaucoma Paronychia Osteoporosis Recurrent respiratory infections Abnormality of the dentition Ptosis Decreased body weight Coxa valga Unerupted tooth Morphological abnormality of the central nervous system Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Decreased sensory nerve conduction velocity Subvalvular aortic stenosis Scaling skin Onycholysis Osteolytic defects of the phalanges of the hand Doll-like facies High anterior hairline Periodontitis Heart block Epiphora Psoriasiform dermatitis Metacarpal osteolysis Ventricular preexcitation Ankle swelling Hyperactive deep tendon reflexes Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Resting tremor Fixed facial expression Gaze-evoked nystagmus Spastic diplegia Dysphonia Cerebral palsy Involuntary movements Abnormal cerebellum morphology Confusion Obsessive-compulsive trait Neoplasm Abnormality of movement Coronary artery atherosclerosis Hyperlipoproteinemia Gout Oligomenorrhea Lipoma Macrocytic anemia Multiple lipomas Axonal degeneration Oral-pharyngeal dysphagia Diabetes mellitus Abnormality of mitochondrial metabolism Ragged-red muscle fibers Hoarse voice Insulin resistance Myocardial infarction Tachycardia Joint stiffness Paraplegia Spastic paraplegia Decreased LDL cholesterol concentration Upper limb muscle weakness Shoulder girdle muscle atrophy Hand muscle weakness Muscle fiber splitting Left ventricular failure Distal lower limb muscle weakness Chronic obstructive pulmonary disease Shoulder girdle muscle weakness Centrally nucleated skeletal muscle fibers Increased endomysial connective tissue Myopathic facies Increased variability in muscle fiber diameter Heart murmur Scapular winging Abnormality of the cardiovascular system Abnormal cardiac septum morphology Facial palsy Proximal lower limb amyotrophy Upper limb amyotrophy Encephalopathy Beevor's sign Dystonia Behavioral abnormality Hypertonia Tremor Hyperreflexia Limitation of movement at ankles Decreased patellar reflex Abnormality of the foot musculature Left anterior fascicular block Triceps weakness Decreased Achilles reflex Limited wrist extension Limited neck flexion Tibialis muscle weakness Limited shoulder movement Enlargement of the ankles Limited hip movement Alcoholism Increased HDL cholesterol concentration Hypertensive retinopathy Suicidal ideation Arthritis Polyhydramnios Proptosis Renal insufficiency Micrognathia Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Macular hypopigmentation Camptodactyly of finger Left ventricular systolic dysfunction Myocardial necrosis Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Proteinuria Corneal opacity Myofibrillar myopathy Cachexia Azotemia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Elevated alkaline phosphatase EMG abnormality Pulmonic stenosis Abnormality of epiphysis morphology Interphalangeal joint contracture of finger Hypotelorism Limitation of joint mobility Triangular face Nephropathy Downturned corners of mouth Stage 5 chronic kidney disease Skeletal myopathy Myocardial fibrosis Abnormal adipose tissue morphology Hypertrophic cardiomyopathy Psychosis Pigmentary retinopathy Progressive visual loss Chest pain Limb muscle weakness Dilated cardiomyopathy Scarring Proximal muscle weakness Atrial fibrillation Reduced visual acuity Hyperactivity Myopathy Cardiomyopathy Respiratory distress Visual impairment Cognitive impairment Ventricular hypertrophy Palpitations Wolff-Parkinson-White syndrome Back pain Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Generalized amyotrophy Neurodevelopmental delay Abnormal electroretinogram Left ventricular hypertrophy Ventricular arrhythmia Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Exercise intolerance Cardiac arrest Decreased liver function Autoamputation of foot



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