Hypertension, and Autism

Diseases related with Hypertension and Autism

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

Top matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Other less relevant matches:

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Attention deficit hyperactivity disorder

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Autistic behavior

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Intellectual disability, mild Abnormal facial shape Hypertelorism Hypothyroidism Obesity Malar flattening Micrognathia Delayed speech and language development Epicanthus Cataract Hypospadias Hearing impairment Short philtrum Prominent nasal bridge Strabismus Growth delay Cryptorchidism Inguinal hernia Cognitive impairment Ataxia Muscular hypotonia Depressivity Specific learning disability Hydrocephalus Short stature Microphthalmia Macrocephaly Low-set ears Cleft palate Intrauterine growth retardation Short nose Bipolar affective disorder Anxiety Brachydactyly Wide nasal bridge Abnormality of the skeletal system Midface retrusion Underdeveloped nasal alae Failure to thrive Dilatation Glaucoma Precocious puberty Patent ductus arteriosus Gastroesophageal reflux Scoliosis Short neck Respiratory insufficiency Abnormality of cardiovascular system morphology Pain Downslanted palpebral fissures Intellectual disability, moderate Motor delay Aggressive behavior Irritability

Rare Symptoms - Less than 30% cases

Cardiomyopathy Congestive heart failure Headache Respiratory failure Conductive hearing impairment Narrow mouth Cough Constipation Turricephaly Renal cyst Ventricular septal defect Cafe-au-lait spot Polycystic kidney dysplasia Renal cell carcinoma Brain neoplasm Astrocytoma Optic nerve glioma Respiratory distress Prominent nose Nephroblastoma Sensorineural hearing impairment Clinodactyly of the 5th finger Mandibular prognathia Joint stiffness Small hand Hypoplasia of the maxilla Asthma Cone-shaped epiphysis Anemia Choanal atresia Myopia Syndactyly Micropenis Telecanthus Broad forehead Single transverse palmar crease Visual loss Hyporeflexia Abnormality of the dentition Limb ataxia Aganglionic megacolon Feeding difficulties Atrial septal defect Immunodeficiency Recurrent infections Deeply set eye Spina bifida Blepharophimosis Coarctation of aorta Nasal speech Abnormality of the cardiovascular system Tetralogy of Fallot Short toe Gastrointestinal hemorrhage Narrow palpebral fissure Hand polydactyly Multiple renal cysts Abnormal heart morphology Hyperreflexia Aortic valve stenosis Thrombocytopenia Cleft lip Hernia Clinodactyly Vomiting Posteriorly rotated ears Macrotia Thin upper lip vermilion Optic atrophy Respiratory tract infection Psychosis Small for gestational age Pulmonic stenosis Facial asymmetry Joint hyperflexibility Oral cleft Abnormality of skin pigmentation Long face Tapered finger Hypsarrhythmia Neoplasm Anteverted nares Bowel incontinence Abnormality of the cerebral white matter Progressive cerebellar ataxia Brain atrophy Stroke Myalgia Gait ataxia Gait disturbance Dysarthria Peripheral neuropathy Cerebellar atrophy Nystagmus Infantile spasms Chronic myelogenous leukemia Autoimmunity Long philtrum Upslanted palpebral fissure Leiomyosarcoma Polyhydramnios Overweight Umbilical hernia Arthritis Multiple suture craniosynostosis Feeding difficulties in infancy Carious teeth Tricuspid atresia Fibular bowing Anal atresia Arachnodactyly Dural ectasia Bulbous nose Severe vision loss Epigastric pain Gingival cleft Vesicoureteral reflux Increased reactive oxygen species production Gangrene Abnormal aortic arch morphology Complete atrioventricular canal defect Schwannoma Glioma Hypoplasia of eyelid Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Lisch nodules Neoplasm of the central nervous system Renal phosphate wasting Pheochromocytoma Gastrointestinal stroma tumor Parathyroid adenoma Aqueductal stenosis Renal hypoplasia Myocardial fibrosis Neoplasm of the endocrine system Meningioma Talipes equinovarus Splenomegaly Intestinal malrotation Multiple cafe-au-lait spots Hypocalcemia Malabsorption Mitral valve prolapse Chronic otitis media Overgrowth Posterior embryotoxon Lymphoma Recurrent fractures Peripheral axonal neuropathy Paresthesia Foot polydactyly Genu valgum Pruritus Bone pain Leukemia Paralysis Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Acne Weight loss Osteoporosis Abnormality of the tonsils Blindness Overfolded helix Abnormal lung lobation Abnormality of dental enamel Back pain Osteomalacia Purpura Soft tissue sarcoma Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Hypopigmented skin patches Sarcoma Sensorimotor neuropathy Incoordination Breast carcinoma Patellar dislocation Reduced bone mineral density Schizophrenia Laryngomalacia Hypoparathyroidism Venous thrombosis Atherosclerosis Cholelithiasis Abnormality of the thorax Enlarged vertebral pedicles Single ventricle Pseudoarthrosis Hypoplastic iliac wing Abnormality of the voice Short long bone Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Meningocele Platybasia Irregular vertebral endplates Arrhinencephaly Oligomenorrhea Chronic constipation Visual impairment Oral-pharyngeal dysphagia Tracheal stenosis EMG abnormality Broad ribs Abnormality of epiphysis morphology Restrictive cardiomyopathy Craniofacial hyperostosis Impaired T cell function Constrictive median neuropathy Thickened skin Abnormality of the metaphysis Peptic ulcer Abnormal lung morphology Stridor Radial deviation of finger Epispadias Arthropathy Tetany Abnormality of the uterus Hypoplasia of the thymus Seborrheic dermatitis Chronic obstructive pulmonary disease Wheezing Atelectasis Pericarditis Submucous cleft hard palate Varicose veins Abnormal eyelid morphology Keratoconus Skeletal muscle hypertrophy Abnormal thrombocyte morphology Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion External genital hypoplasia Truncus arteriosus Blurred vision 2-3 toe syndactyly Overlapping toe Femoral hernia Short palpebral fissure Corneal neovascularization Inguinal freckling Recurrent respiratory infections Pear-shaped nose Constrictive pericarditis Abnormality of the pubic bone Flexion contracture Brow ptosis Tibial pseudoarthrosis Retinal arteriolar tortuosity Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Plexiform neurofibroma Hypogonadism Acute promyelocytic leukemia Subcutaneous neurofibromas Neurofibrosarcoma Generalized muscle hypertrophy Hypertensive crisis Neuroma Vestibular Schwannoma Laryngotracheal stenosis Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Severe short stature Abnormality of the skull Fine hair Microtia Abnormality of the ribs Abnormality of the menstrual cycle Amenorrhea Limitation of joint mobility Unilateral cleft lip Bifid uvula Short palm Thick eyebrow Thin vermilion border Astigmatism Hypermetropia Platyspondyly Abnormal cardiac septum morphology Large iliac wings Hyperthyroidism Abnormal lip morphology Abnormality of the penis Scarring Stiff skin Abnormal pulmonary valve morphology Sparse hair Anorectal anomaly Pseudopapilledema Postnatal growth retardation Camptodactyly Esophageal stenosis Dysphasia Joint laxity Absent nasal bridge Olivopontocerebellar atrophy Diffuse cerebellar atrophy Impaired distal vibration sensation Abnormal nerve conduction velocity Abnormality of brainstem morphology Pollakisuria Poor fine motor coordination Saccadic smooth pursuit Dysesthesia Kinetic tremor Disinhibition Astrocytosis Diffuse cerebral atrophy Retrocollis Action tremor Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Resting tremor Abnormality of the thyroid gland Global brain atrophy Agitation Impotence Mask-like facies Postural tremor Obsessive-compulsive behavior Apathy Obsessive-compulsive trait Inertia Dysdiadochokinesis Mild short stature Downturned corners of mouth Delayed puberty High forehead Brachycephaly Chronic rhinitis Red hair Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Short metatarsal Subcortical dementia Increased intracranial pressure Accelerated skeletal maturation Type I diabetes mellitus Short phalanx of finger Osteoarthritis Eczema Short metacarpal Round face Skeletal dysplasia Diabetes mellitus Depressed nasal bridge Impaired tandem gait Premature ovarian insufficiency Spastic paraparesis Abnormality of the genital system Coma Ketoacidosis Restlessness Weak cry Spastic diplegia Impulsivity Poor suck Leukopenia Choreoathetosis Intellectual disability, profound Aciduria Chorea Neutropenia Vertical supranuclear gaze palsy Lethargy Severe global developmental delay Apnea Abnormality of the nervous system Neonatal hypotonia Acidosis Myoclonus Agenesis of corpus callosum Encephalopathy Intellectual disability, severe Hypoplasia of the corpus callosum Generalized hypotonia Hyperglycinemia Hyperglycinuria Paraparesis Abnormality of movement Abnormal autonomic nervous system physiology Horizontal nystagmus Intention tremor Bradykinesia Memory impairment Hypotension Urinary incontinence Parkinsonism Abnormal cerebellum morphology Postural instability Distal sensory impairment Dysmetria Mental deterioration Posterior fossa cyst Proximal muscle weakness Rigidity Cerebral cortical atrophy Dementia Dysphagia Tremor Muscle weakness Pill-rolling tremor Recurrent singultus Episodic ketoacidosis Nonketotic hyperglycinemia Delirium Broad nasal tip Wormian bones Widely-spaced maxillary central incisors Dental crowding Ventriculomegaly Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Sandal gap Horseshoe kidney Narrow face Aspiration Anorexia Stereotypy Pulmonary arterial hypertension EEG abnormality Everted lower lip vermilion Pectus carinatum Pectus excavatum Frontal bossing High palate Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Polydactyly Abnormality of the pinna Cardiac rhabdomyoma Anophthalmia Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Unilateral renal agenesis Language impairment Wide mouth Bilateral ptosis Pyloric stenosis Aortic regurgitation Microretrognathia Hemivertebrae Pointed chin Congenital diaphragmatic hernia Renal agenesis Flat face Smooth philtrum Talipes Coloboma Cortical tubers Ungual fibroma Cutaneous syndactyly Arrhythmia Focal-onset seizure Nevus Gliosis Chest pain Hypopigmentation of the skin Sleep disturbance Retinal detachment Nausea Skin rash Abnormality of the kidney Carcinoma Dyspnea Renal insufficiency Generalized-onset seizure Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Depressed nasal tip Exostoses Aniridia Self-injurious behavior Sparse eyebrow Cerebral calcification Cardiomegaly Dental enamel pits Pneumothorax Hypomelanotic macule Subependymal nodules Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Shagreen patch Flank pain Adenoma sebaceum Fibroma Chylothorax Gingival fibromatosis Wolff-Parkinson-White syndrome Heterotopia White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Hyperventilation Hamartoma Aortic aneurysm CNS hypomyelination Tachypnea Hypoplasia of dental enamel Subcutaneous nodule Occipital myelomeningocele


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Malar flattening, related diseases and genetic alterations Downslanted palpebral fissures and Narrow forehead, related diseases and genetic alterations Depressed nasal bridge and Sensory neuropathy, related diseases and genetic alterations Myopathy and Ventriculomegaly, related diseases and genetic alterations