Hypertension, and Congenital cataract
Diseases related with Hypertension and Congenital cataract
In the following list you will find some of the most common rare diseases related to Hypertension and Congenital cataract that can help you solving undiagnosed cases.
Top matches:
Medium match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
- Seizures
- Global developmental delay
- Microcephaly
- Cataract
- Spasticity
More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
Medium match PHEOCHROMOCYTOMA
Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.
PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to
Related symptoms:
- Neoplasm
- Hypertension
- Tremor
- Fatigue
- Congestive heart failure
SOURCES: ORPHANET OMIM MENDELIAN
More info about PHEOCHROMOCYTOMAMedium match ALPORT SYNDROME, X-LINKED; ATS
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; ATSOther less relevant matches:
Medium match SCALP-EAR-NIPPLE SYNDROME
Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Abnormal facial shape
- Cataract
- Low-set ears
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about SCALP-EAR-NIPPLE SYNDROMECongenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)
Related symptoms:
- Intellectual disability
- Seizures
- Generalized hypotonia
- Growth delay
- Nystagmus
SOURCES: OMIM ORPHANET MENDELIAN
More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROMEMedium match COCKAYNE SYNDROME TYPE 2
Caused by mutations of gene ERCC6.
COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: OMIM ORPHANET MENDELIAN
More info about COCKAYNE SYNDROME TYPE 2Medium match ZIMMERMANN-LABAND SYNDROME
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about ZIMMERMANN-LABAND SYNDROMECombined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCCMedium match ATYPICAL WERNER SYNDROME
Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome
Related symptoms:
- Short stature
- Failure to thrive
- Micrognathia
- Hypertension
- Skeletal muscle atrophy
More info about ATYPICAL WERNER SYNDROME
Medium match CODAS SYNDROME
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about CODAS SYNDROMETop 5 symptoms//phenotypes associated to Hypertension and Congenital cataract
| Symptoms // Phenotype | % cases |
|---|---|
| Cataract | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Hypertension and Congenital cataract. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Congestive heart failure Hearing impairment Strabismus Nystagmus Sensorineural hearing impairment Myopia Muscular hypotonia Renal insufficiency Abnormal facial shape Failure to thrive Microcephaly Proteinuria Intellectual disability, severe Delayed eruption of teeth Retinopathy Abnormality of the pinna Hematuria Mandibular prognathia Weight loss Tremor Muscle weakness Fatigue Short stature Abnormality of the hair Dry skin Dyspnea Thrombocytopenia Low-set earsRare Symptoms - Less than 30% cases
Retinal degeneration Osteoporosis Hepatic steatosis Respiratory insufficiency Hypermetropia Abnormality of skin pigmentation Limitation of joint mobility Pigmentary retinopathy Bilateral sensorineural hearing impairment Hip dislocation Headache Splenomegaly Epicanthus Hepatomegaly Pulmonary arterial hypertension Cardiomyopathy Hip dysplasia Acidosis Mental deterioration Feeding difficulties in infancy Generalized muscle weakness Aciduria Abnormality of the thorax Cryptorchidism Recurrent urinary tract infections Premature ovarian insufficiency Sparse hair Protruding ear Anteverted nares Hypoplastic helices Depressed nasal bridge Ataxia Abnormality of retinal pigmentation Corneal dystrophy Growth delay Broad forehead Abnormality of the skeletal system Hemangioma Conductive hearing impairment Brachydactyly Scoliosis Hyperhidrosis Polyhydramnios Macrotia Nephrolithiasis Renal hypoplasia Pallor Spasticity Joint hypermobility Optic atrophy Progeroid facial appearance Dysphagia Diffuse hepatic steatosis Small nail Thick lower lip vermilion Micrognathia Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Megaloblastic anemia Cor pulmonale Hypertrichosis Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Accelerated skeletal maturation Right ventricular failure Hemolytic-uremic syndrome Thickened skin Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Cystathioninemia Hypomethioninemia Cystathioninuria Gingival overgrowth Vitamin B12 deficiency Decreased methionine synthase activity Thyroglossal cyst Generalized hirsutism Atrophy of the spinal cord Hyperhomocystinemia Hemivertebrae Decreased methylcobalamin Spina bifida occulta Intellectual disability, progressive Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Urogenital fistula Cerebral cortical atrophy Slurred speech Prominent eyelashes Cavernous hemangioma Confusion Smooth philtrum Biliary atresia Generalized hypertrichosis Lower limb muscle weakness Everted upper lip vermilion Aortic arch aneurysm Malabsorption Lethargy Short distal phalanx of toe Hyperextensibility of the finger joints Mesiodens Anemia Arthritis Feeding difficulties Visual impairment Difficulty walking High forehead Hydrocephalus Depressivity Dementia Reduced visual acuity Unsteady gait Paresthesia Atherosclerosis Broad ribs Gait ataxia Metaphyseal widening Anorexia Broad-based gait Large for gestational age Anonychia Pericardial effusion Aortic root aneurysm Psychosis Protruding tongue Pancytopenia Abnormality of extrapyramidal motor function Gingival fibromatosis Dystrophic fingernails Thin bony cortex Memory impairment Urinary incontinence Neutropenia Metabolic acidosis Colpocephaly Long penis Nephropathy Hemolytic anemia Long face Growth abnormality Finger clinodactyly Skeletal muscle atrophy Short philtrum Abnormality of dental enamel Congenital hip dislocation Short phalanx of finger Abnormality of epiphysis morphology Hypoplasia of dental enamel Omphalocele Abnormal form of the vertebral bodies Microdontia Short metacarpal Flat face Anal atresia Joint hyperflexibility Genu valgum Intellectual disability, moderate Drooling Pneumonia Delayed skeletal maturation Short nose Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Delayed speech and language development Ptosis Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Neoplasm of the oral cavity Short chin Short long bone Intervertebral disc degeneration Abnormality of the larynx Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Squared iliac bones Hemiatrophy Lumbar scoliosis Midline defect of the nose Vocal cord paresis Pes valgus Delayed ossification of carpal bones Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Rectovaginal fistula CNS hypomyelination Delayed epiphyseal ossification Hypoplasia of the odontoid process Prominent metopic ridge Short humerus Metaphyseal dysplasia Atrioventricular canal defect Hydroureter Spondyloepiphyseal dysplasia Abnormality of dental morphology Proximal placement of thumb Overfolded helix Epiphyseal dysplasia Bilateral ptosis Abnormality of pelvic girdle bone morphology Premature arteriosclerosis Neoplasm of the thyroid gland Alopecia Aortic valve stenosis Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Premature graying of hair Calf muscle hypertrophy Rocker bottom foot Hyperglycemia Abnormality of the voice Hyperinsulinemia Laryngomalacia Reduced bone mineral density Neoplasm of the skin Overgrowth Increased bone mineral density Narrow face Skin ulcer Lipoatrophy Decreased body weight Thin skin Hypertriglyceridemia Type II diabetes mellitus Mitral valve prolapse Convex nasal ridge Short palm Thin vermilion border Delayed puberty Hypotrichosis Pes planus Hyperkeratosis Diabetes mellitus Hypogonadism Decreased fertility Aplasia/Hypoplasia of the skin Subcutaneous calcification Abnormality of the testis Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Lack of skin elasticity Pili torti Glycosuria Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Osteolytic defects of the phalanges of the hand Meningioma Fragile nails Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Ovarian neoplasm Sparse body hair Telangiectasia of the skin Intellectual disability, profound Abnormal auditory evoked potentials Macroglossia Macroscopic hematuria Abnormality of the dentition 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 Periorbital edema Telecanthus Elliptocytosis Abdominal situs inversus Foam cells Corneal erosion Tubulointerstitial nephritis Edema of the lower limbs Microscopic hematuria Hypoparathyroidism Glomerulopathy Macular dystrophy Nephritis Chronic kidney disease Syndactyly Camptodactyly Leukopenia Abnormality of the nail Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the urinary system Cutaneous syndactyly Abnormality of the fingernails Narrow palpebral fissure Type I diabetes mellitus Hypohidrosis Abnormality of the kidney Fine hair Hypotelorism Renal agenesis Abnormality of the skin Nail dysplasia Vesicoureteral reflux Iris coloboma Nail dystrophy Finger syndactyly Microtia Coloboma Blepharophimosis Tinnitus Subcutaneous nodule Short columella Nausea Raynaud phenomenon Vocal cord paralysis Episodic abdominal pain Aniridia Cerebral hemorrhage Glomerulosclerosis Hypercalcemia Dysphonia Cafe-au-lait spot Palpitations Chest pain Tachycardia Carcinoma Neoplasm of the endocrine system Neoplasm Calcinosis Poor head control Nephrocalcinosis Aminoaciduria Delayed myelination Inability to walk Abnormality of the cerebral white matter Hydronephrosis Gastroesophageal reflux Hyporeflexia Absent speech Flushing Pheochromocytoma Nephrotic syndrome Elevated urinary epinephrine Ichthyosis Stage 5 chronic kidney disease Photophobia Midface retrusion Vomiting Edema Episodic hypertension Elevated urinary norepinephrine Paroxysmal vertigo Positive regitine blocking test Paraganglioma of head and neck Elevated urinary dopamine Extraadrenal pheochromocytoma Paraganglioma Episodic hyperhidrosis Panic attack Hypertensive retinopathy Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Renal artery stenosis Recurrent paroxysmal headache Albuminuria Cranial nerve compression Sinus tachycardia Palpebral edema Abnormality of the antihelix Thick vermilion border Reduced subcutaneous adipose tissue Decreased lacrimation Delayed eruption of primary teeth Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Atypical scarring of skin Severe failure to thrive Hypoplasia of the iris Abnormality of visual evoked potentials Basal ganglia calcification Thickened calvaria Anhidrosis Normal pressure hydrocephalus Decreased nerve conduction velocity Dermal atrophy Opacification of the corneal stroma Cutaneous photosensitivity Dental malocclusion Microcornea Polyneuropathy Carious teeth Small for gestational age Prominent nasal bridge Postnatal growth retardation Deeply set eye Loss of facial adipose tissue Increased cellular sensitivity to UV light Severe short stature Hernia Hirsutism Short distal phalanx of finger Thick eyebrow Bulbous nose Synophrys Wide mouth Hepatosplenomegaly Umbilical hernia Coarse facial features Polydactyly Posteriorly rotated ears Patent ductus arteriosus Dilatation Severe photosensitivity Downslanted palpebral fissures Macrocephaly Wide nasal bridge High palate Cerebellar calcifications Subcortical white matter calcifications Patchy demyelination of subcortical white matter Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Micropenis Arrhythmia Eyelid coloboma Abnormality of the scalp Esotropia Increased serum lactate Lactic acidosis Stroke Hypertrophic cardiomyopathy Osteopenia Glaucoma Cerebellar hypoplasia Myopathy Respiratory distress Motor delay Duplication of renal pelvis Underdeveloped antitragus Cardiac arrest 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Hemiparesis Exercise intolerance Cerebral atrophy 3-Methylglutaconic aciduria Microphthalmia Kyphosis Intrauterine growth retardation Flexion contracture Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination Skeletal myopathy Tachypnea Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Absent epiphysesIf you liked 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