Hypertension, and Hypopigmentation of the skin

Diseases related with Hypertension and Hypopigmentation of the skin

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

Top matches:

Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Other less relevant matches:

Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

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

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

Low match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Hypopigmented skin patches Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Global developmental delay Peripheral neuropathy Vomiting Abdominal pain Generalized hypopigmentation Nausea Strabismus Nystagmus Generalized hypotonia Congestive heart failure Nevus Hearing impairment Stroke Scarring

Rare Symptoms - Less than 30% cases

Myalgia Clinodactyly Papule Confusion Anxiety Craniosynostosis Short stature Constipation Fibroma Muscle weakness Diarrhea Tetraplegia Abnormality of the skeletal system Fever Autistic behavior Growth delay Testicular neoplasm Blue irides Pituitary prolactin cell adenoma Increased circulating cortisol level Multiple lipomas Hemangioma Hydrocephalus Subcutaneous nodule Thyroid carcinoma Renal angiomyolipoma Connective tissue nevi Pituitary adenoma Respiratory distress Hypermelanotic macule Growth hormone excess Angiofibromas Dyspnea White hair Hypothyroidism Hypopigmentation of hair Cafe-au-lait spot Precocious puberty CNS hypomyelination Hepatomegaly Abnormality of the kidney Renal insufficiency Myopia Frontal bossing Low-set ears Sensorineural hearing impairment Coma Brain atrophy Wide nasal bridge Peripheral demyelination Arrhythmia Macrocephaly Downslanted palpebral fissures Visual impairment Visual loss Tachypnea Muscular hypotonia Cerebral dysmyelination Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Dilatation Acute hepatic steatosis Hyperactivity Microcolon Elevated plasma acylcarnitine levels White eyebrow White eyelashes Reye syndrome-like episodes Alacrima Intestinal pseudo-obstruction Posterior staphyloma Recurrent hypoglycemia Meconium ileus Neonatal asphyxia Hypoplasia of the cochlea Abnormal chorioretinal morphology Intellectual disability, mild Reduced consciousness/confusion Decreased plasma carnitine Behavioral abnormality Abnormal left ventricle morphology Hepatic encephalopathy Spasmus nutans Headache Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Cholestatic liver disease Hypoketotic hypoglycemia Hypoplasia of the semicircular canal Myelin outfoldings Gastrointestinal inflammation Absent brainstem auditory responses Arthrogryposis multiplex congenita Ileus Hyporeflexia Aganglionic megacolon Spastic tetraplegia Splenomegaly Underdeveloped nasal alae Areflexia Distal sensory impairment Distal amyotrophy Glaucoma Pes cavus Intellectual disability, severe Myoclonus Hypogonadism Hepatosplenomegaly Neonatal hypotonia Abnormality of the nervous system Telecanthus Distal muscle weakness Abnormal pyramidal sign Hypohidrosis Leukodystrophy Prominent nasal bridge Premature graying of hair Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Demyelinating peripheral neuropathy Abnormality of acid-base homeostasis 3-hydroxydicarboxylic aciduria Heterochromia iridis Abnormal eyebrow morphology Ataxia Congenital nystagmus Intestinal obstruction Abnormal autonomic nervous system physiology Portal hypertension Decreased nerve conduction velocity Cryptorchidism Spasticity Motor delay Anosmia Torticollis Spastic paraparesis White forelock Heterotopia Respiratory failure Apnea Plagiocephaly Low anterior hairline Bradycardia Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Short foot High, narrow palate Short palm Abnormal cardiac septum morphology Proptosis Increased intracranial pressure Brachycephaly Prominent forehead Midface retrusion Syndactyly Malar flattening Hypoplasia of the corpus callosum Respiratory insufficiency Anteverted nares Ventricular septal defect Dysphagia Brachydactyly Acanthosis nigricans Trigonocephaly High palate Anterior plagiocephaly Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Oxycephaly Cone-shaped epiphysis Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Tarsal synostosis Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Hyperreflexia Cognitive impairment Autism Specific learning disability Renal cell carcinoma Hamartoma Infantile spasms Nephroblastoma Aortic aneurysm Polycystic kidney dysplasia Hypoplasia of dental enamel Rhabdomyolysis Cardiomegaly Generalized-onset seizure Cerebral calcification Focal-onset seizure Skin tags Gliosis Chest pain Renal cyst Sleep disturbance Retinal detachment Abnormality of the cerebral white matter Cough Attention deficit hyperactivity disorder Skin rash Irritability Intellectual disability, moderate Hyperventilation Abnormality of the respiratory system Ptosis Hypomelanotic macule Hypertelorism Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Subependymal nodules Renal neoplasm Optic nerve glioma Premature chromatid separation Ependymoma Shagreen patch Flank pain Adenoma sebaceum Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome Preeclampsia Cataract Chorioretinal atrophy Hepatocellular carcinoma Type II diabetes mellitus Erythema Diabetes mellitus Porphyrinuria Premature adrenarche Dark urine Motor polyneuropathy Neoplasm of the liver Visual hallucinations Insomnia Hypercalcemia Restlessness Fragile skin Milia Agitation Chronic kidney disease Aspiration Hallucinations Thin skin Hypertrichosis Cutaneous photosensitivity Abnormality of the urinary system Hyperparathyroidism Abnormal blistering of the skin Parathyroid hyperplasia Zollinger-Ellison syndrome Thyroid adenoma Neuroendocrine neoplasm Fasting hyperinsulinemia Subcutaneous lipoma Extrahepatic cholestasis Papillary thyroid carcinoma Thymoma Adrenocortical adenoma Carcinoid tumor Thyroiditis Peptic ulcer Primary hyperparathyroidism Parathyroid adenoma Elevated circulating parathyroid hormone level Neoplasm of the endocrine system Abnormality of the endocrine system Hyperinsulinemic hypoglycemia Esophagitis Episodic abdominal pain Hashimoto thyroiditis Psychosis Tachycardia Pituitary growth hormone cell adenoma Polypoidal choroidal vasculopathy Anal atresia Short philtrum Sparse hair Upslanted palpebral fissure Epicanthus Depressed nasal bridge Micrognathia Macular hemorrhage Foveal hypopigmentation Macular drusen Thick vermilion border Geographic atrophy Choroidal neovascularization Drusen Gout Emphysema Macular degeneration Abnormality of the cardiovascular system Progressive visual loss Reduced visual acuity Blindness Bulbous nose Downturned corners of mouth Nausea and vomiting Abnormal hair pattern Paralysis Depressivity Congenital horizontal nystagmus Sparse lower eyelashes Abnormality of the sacroiliac joint Distichiasis Dimple chin Abnormality of the upper urinary tract Lacrimation abnormality Periorbital fullness Sparse lateral eyebrow Highly arched eyebrow Absent eyelashes Abnormal eyelash morphology Aplasia cutis congenita Prematurely aged appearance Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Redundant skin Horizontal nystagmus Depressed nasal ridge Broad nasal tip Increased urinary cortisol level Pituitary corticotropic cell adenoma Loss of consciousness Uterine leiomyoma Myopathy Cardiomyopathy Feeding difficulties Failure to thrive Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Follicular thyroid carcinoma Elevated serum creatine phosphokinase Follicular hyperplasia Multiple lentigines Red hair Schwannoma Paraganglioma Pheochromocytoma Macroorchidism Bipolar affective disorder Striae distensae Freckling Abnormality of metabolism/homeostasis Jaundice Neurofibromas Metabolic acidosis Abnormal electroretinogram Hypocalcemia Sensorimotor neuropathy Decreased liver function Abnormality of retinal pigmentation Exotropia Anorexia Pigmentary retinopathy Polyneuropathy Hepatic steatosis Photophobia Retinal dystrophy Hepatic failure Peripheral axonal neuropathy Dilated cardiomyopathy Nyctalopia Retinopathy Abnormality of the liver Hypertrophic cardiomyopathy Elevated hepatic transaminase Hypoglycemia Macule Heart murmur Parathyroid carcinoma Arthralgia Hoarse voice Bone pain Lymphedema Abnormality of epiphysis morphology Abnormality of the metaphysis Recurrent fractures Palmoplantar keratoderma Joint stiffness Arthritis Skeletal dysplasia Hyperostosis Abnormality of the dentition Skeletal muscle atrophy Flexion contracture Abnormality of pancreas physiology Confetti-like hypopigmented macules Cervix cancer Increased glucagon level Pulmonary carcinoid tumor Insulinoma Pituitary null cell adenoma Flat occiput Scleroderma Sarcoma Osteoporosis Ischemic stroke Increased body weight Gynecomastia Tall stature Palpitations Abnormality of the skin Hirsutism Abnormality of the eye Proximal muscle weakness Weight loss Fatigue Cutaneous finger syndactyly Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Osteopoikilosis Abnormal bone structure Generalized limb muscle atrophy Abnormal aortic morphology Generalized osteosclerosis Abnormal cortical bone morphology Atypical scarring of skin Thimble-shaped middle phalanges of hand


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