Hypertension, and Ichthyosis

Diseases related with Hypertension and Ichthyosis

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

Top matches:

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Other less relevant matches:

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU 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

HELIX SYNDROME; HELIX Is also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia

Related symptoms:

  • Pain
  • Renal insufficiency
  • Dry skin
  • Ichthyosis
  • Postural instability


SOURCES: OMIM MENDELIAN

More info about HELIX SYNDROME; HELIX

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

Top 5 symptoms//phenotypes associated to Hypertension and Ichthyosis

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Edema Arrhythmia Splenomegaly Dry skin Failure to thrive Diarrhea Nephrotic syndrome Pain Seizures Xerostomia Microcephaly Nausea Headache Pulmonary arterial hypertension Thrombocytopenia Lymphadenopathy Abdominal pain Weight loss Sudden cardiac death Leukopenia Fever Erythema Gastroesophageal reflux Stage 5 chronic kidney disease Global developmental delay Renal insufficiency Hearing impairment Portal hypertension Cataract Vomiting Dysphagia Abnormal facial shape Photophobia Proteinuria Jaundice Kyphosis

Rare Symptoms - Less than 30% cases

Visual loss Pectus excavatum Elevated serum creatine phosphokinase Aortic aneurysm Dilated cardiomyopathy Nephropathy Paresthesia Abnormality of the liver Congenital cataract Vertigo Atrial fibrillation Elbow flexion contracture Tubulointerstitial nephritis Retinopathy Atrioventricular block Hypoparathyroidism Sensorineural hearing impairment Midface retrusion Glomerulopathy Chronic kidney disease Pallor Reduced tendon reflexes Spasticity Short stature Feeding difficulties in infancy Encephalopathy Delayed skeletal maturation Dementia Myoclonus Spontaneous hematomas Apnea Developmental regression Lethargy Congestive heart failure Ophthalmoplegia Generalized myoclonic seizures Decreased body weight Anorexia Cardiac arrest Purpura Bilateral ptosis Hyponatremia Dystonia Hypertonia Generalized hypotonia Ventriculomegaly Growth delay Hypertelorism Nystagmus Strabismus Gait disturbance Visual impairment Intrauterine growth retardation Cerebellar atrophy Respiratory distress Cerebral atrophy Cerebellar hypoplasia Hypocalcemia Focal segmental glomerulosclerosis Postural instability Cachexia Ataxia Motor delay Myopathy Bilateral sensorineural hearing impairment Skeletal muscle atrophy Ascites Cholestasis Generalized osteosclerosis Osteolysis Bone pain Osteoporosis Abnormality of blood and blood-forming tissues Arthralgia Hyperbilirubinemia Hepatosplenomegaly Myalgia Skin rash Hypotension Muscle weakness Flexion contracture Papule Scoliosis Pruritus Ptosis Micrognathia Malabsorption Muscular hypotonia Nausea and vomiting Cirrhosis Cardiac valve calcification Short neck Cardiomyopathy Abnormal nerve conduction velocity Blindness Abnormality of the dentition Auditory hallucinations Depressivity Respiratory insufficiency Slowed horizontal saccades Tremor Optic atrophy Dysarthria Hyperreflexia Renal Fanconi syndrome Peripheral neuropathy Feeding difficulties Cognitive impairment Tubulointerstitial abnormality EEG with temporal sharp waves Areflexia Acidosis Hyporeflexia Hypertrophic cardiomyopathy Persistence of primary teeth Leber optic atrophy Generalized tonic-clonic seizures Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Protruding ear Abnormality of the pinna Mental deterioration Gastroparesis Constipation Amaurosis fugax Anxiety EEG abnormality Hypothyroidism Autism Gait ataxia Cerebral cortical atrophy Diabetes mellitus Hypogonadism Rod-cone dystrophy Abnormal platelet aggregation CSF pleocytosis Hematological neoplasm Increased serum ferritin Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Slow saccadic eye movements Trismus Homonymous hemianopia Bulbar signs Abnormality of acid-base homeostasis Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Episodic quadriplegia Bilateral intracranial calcifications Hypoxemia Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Morphological abnormality of the vestibule of the inner ear Poor eye contact Congenital ichthyosiform erythroderma Morphological abnormality of the inner ear Bulbar palsy Exertional dyspnea Hypokinesia Interstitial pulmonary abnormality Abnormality of the larynx Abnormality of the spleen Decreased beta-glucocerebrosidase protein and activity Giant cell hepatitis Psychotic episodes Erlenmeyer flask deformity of the femurs Orthopnea Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Laryngeal stridor Edema of the dorsum of hands Cochlear malformation Intestinal bleeding Avascular necrosis of the capital femoral epiphysis Progressive night blindness Subcutaneous hemorrhage Abducens palsy Axial dystonia Cochlear degeneration Abnormal mitochondrial shape Hemophagocytosis Eclabion Abnormal pattern of respiration Paralytic ileus Abnormal cochlea morphology Histiocytosis Restrictive deficit on pulmonary function testing Writer's cramp Dysmetria Muscle fiber atrophy Hypercalciuria Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Hemiplegia Decreased nerve conduction velocity Vestibular dysfunction Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Renal tubular dysfunction Visual hallucinations Increased CSF lactate Ragged-red muscle fibers Wolff-Parkinson-White syndrome Aphasia Dysphasia Reduced consciousness/confusion Pulmonary embolism Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Transient ischemic attack Hashimoto thyroiditis Atopic dermatitis Drowsiness Delusions Distal arthrogryposis Primary adrenal insufficiency Hyperkalemia Cardiorespiratory arrest Abnormality of immune system physiology Facial diplegia Thyroiditis Aortic dissection Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Cerebral ischemia Gait imbalance Arthrogryposis multiplex congenita Migraine Type II diabetes mellitus Generalized-onset seizure Abnormality of the cardiovascular system Episodic vomiting Pigmentary retinopathy Cerebral calcification Amenorrhea Motor polyneuropathy Specific learning disability Dysesthesia Hip dysplasia Memory impairment Increased serum lactate Sensory impairment Psychosis Psychomotor deterioration Abnormal cerebellum morphology Muscle cramps Coma Polyneuropathy Hirsutism Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Confusion Anal atresia Delayed puberty Carious teeth Status epilepticus Ventricular hypertrophy Anterior hypopituitarism Hypogonadotrophic hypogonadism Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy External ophthalmoplegia Abnormality of coagulation Abnormality of peripheral nerve conduction Pancreatitis Macular degeneration Exercise intolerance Proximal tubulopathy Type I diabetes mellitus Ileus Hemiparesis Hemianopia Generalized hirsutism EMG abnormality Abnormality of the renal tubule Truncal ataxia Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Involuntary movements Hypertrichosis Petechiae Hypocalciuria Opisthotonus Lipodystrophy Shoulder girdle muscle weakness Progeroid facial appearance Ankle contracture Sprengel anomaly Rimmed vacuoles Spinal rigidity Restrictive ventilatory defect Generalized amyotrophy Toe walking Congenital muscular dystrophy Myotonia Limb-girdle muscular dystrophy Back pain Achilles tendon contracture EMG: myopathic abnormalities Scapular winging Diplopia Abnormal lung morphology Palpitations Hypertriglyceridemia Lumbar hyperlordosis Waddling gait Lower limb muscle weakness Limb muscle weakness Muscular dystrophy Joint stiffness Limb-girdle muscle weakness Decreased HDL cholesterol concentration Proximal muscle weakness Pelvic girdle muscle atrophy Edema of the lower limbs Microscopic hematuria Macular dystrophy Nephritis Tinnitus Corneal dystrophy Subcutaneous nodule Hematuria Myopia Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Type 1 muscle fiber atrophy Increased connective tissue Proximal upper limb amyotrophy Ventricular escape rhythm Permanent atrial fibrillation Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Shoulder girdle muscle atrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Hyporeflexia of lower limbs Hyperlordosis Obesity Foam cells Erythroderma Acute hepatitis Absent hair Sclerosing cholangitis Scarring alopecia of scalp Hypotrichosis of the scalp Orthokeratosis Thick hair Concave nail Cholangitis Alopecia of scalp Parakeratosis Sparse body hair Scaling skin Leukemia Oligodontia Acanthosis nigricans Sparse eyelashes Abnormality of dental enamel Sparse and thin eyebrow Hypoplasia of dental enamel Epidermal acanthosis Hepatitis Hypodontia Hypotrichosis Scarring Alopecia Neoplasm Tachycardia Telangiectasia macularis eruptiva perstans Hypersplenism Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Gastrointestinal stroma tumor Myeloproliferative disorder Recurrent fractures Allergy Flushing Acute leukemia Hypermelanotic macule Loss of consciousness Urticaria Sarcoma Shock Bone marrow hypocellularity Telangiectasia Abnormal blistering of the skin Gastrointestinal hemorrhage Asthma Corneal erosion Abdominal situs inversus Menorrhagia Heat intolerance Irritability Elevated hepatic transaminase Rigidity Hypoglycemia Umbilical hernia Osteopenia Polyhydramnios Recurrent respiratory infections Generalized anhidrosis Hypermagnesemia Secondary hyperparathyroidism Alacrima Hyperparathyroidism Corneal opacity Anhidrosis Polyuria Hypokalemia Nephrocalcinosis Hypohidrosis Nephrolithiasis Hypertensive crisis Diffuse mesangial sclerosis Hand clenching Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Cough Abnormality of eye movement Hypoalbuminemia Aspiration Athetosis Heart murmur Akinesia Clubbing Ectropion Abnormality of the thorax Intracranial hemorrhage Cholelithiasis Poor suck Hyperammonemia Oculomotor apraxia Knee flexion contracture Progressive microcephaly Hepatic failure Hydrops fetalis Thickened skin Progressive neurologic deterioration Epistaxis Pancytopenia Decreased fetal movement Cyanosis Abnormality of the skin Brain atrophy Syncope Abnormal bleeding Pulmonary hypoplasia Glomerulosclerosis Lissencephaly Elliptocytosis Facial palsy Erythema nodosum Synovitis Abnormality of the retinal vasculature Abnormality of the optic nerve Abnormal cranial nerve morphology Joint swelling Pericarditis Keratitis Skin ulcer Hyperpigmentation of the skin Limitation of joint mobility Camptodactyly of finger Glaucoma Iridocyclitis Cylindruria Morphological abnormality of the semicircular canal Lentiglobus Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation Neoplasm of the colon Uterine neoplasm Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Periorbital edema Posterior uveitis Abnormal salivary gland morphology Leukodystrophy Narrow mouth Postnatal microcephaly Pachygyria Coarctation of aorta Oligohydramnios Sloping forehead Narrow forehead Convex nasal ridge Arachnodactyly Hip dislocation Coloboma Camptodactyly Deeply set eye Microphthalmia Abnormal choroid morphology Hypoplasia of the corpus callosum Anteverted nares Downslanted palpebral fissures Epicanthus Delayed speech and language development High palate Low-set ears Cryptorchidism Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Polyarticular arthritis Prominent ear helix


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