Hypertension, and Epidermal acanthosis
Diseases related with Hypertension and Epidermal acanthosis
In the following list you will find some of the most common rare diseases related to Hypertension and Epidermal acanthosis that can help you solving undiagnosed cases.
Medium match PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).
PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld4|plin1-related fpld|lipodystrophy, familial partial, associated with plin1 mutationsRelated symptoms:
- Diabetes mellitus
- Hepatic steatosis
- Epidermal acanthosis
More info about PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Medium match OBESITY
excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).Related symptoms:
- Diabetes mellitus
- Weight loss
More info about OBESITY
Medium match FAMILIAL ISOLATED PITUITARY ADENOMA
Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fisRelated symptoms:
More info about FAMILIAL ISOLATED PITUITARY ADENOMA
Other less relevant matches:
Medium match NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
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 syndromeRelated symptoms:
More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
- Failure to thrive
- Respiratory distress
More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2
Medium match FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE
Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling typeRelated symptoms:
- Diabetes mellitus
- Hepatic steatosis
More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE
Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutationsRelated symptoms:
- Congestive heart failure
More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndromeRelated symptoms:
- Intellectual disability
- Cognitive impairment
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004).
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1Related symptoms:
- Intellectual disability
- Cognitive impairment
- Peripheral neuropathy
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndromeRelated symptoms:
- Global developmental delay
- Cleft palate
More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME
Top 5 symptoms//phenotypes associated to Hypertension and Epidermal acanthosis
|Symptoms // Phenotype||% cases|
|Acanthosis nigricans||Very Common - Between 80% and 100% cases|
|Hepatic steatosis||Common - Between 50% and 80% cases|
|Polycystic ovaries||Common - Between 50% and 80% cases|
|Lipodystrophy||Uncommon - Between 30% and 50% cases|
|Insulin resistance||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Hypertension and Epidermal acanthosis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesDiabetes mellitus Lipoatrophy Hepatomegaly Hypertriglyceridemia Hyperinsulinemia Splenomegaly Insulin-resistant diabetes mellitus Skeletal muscle hypertrophy Abdominal obesity Cirrhosis Hirsutism Hypertrophic cardiomyopathy Polyphagia Acute pancreatitis Cardiomyopathy Obesity Umbilical hernia Macrotia Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Loss of gluteal subcutaneous adipose tissue Loss of subcutaneous adipose tissue in limbs Oligomenorrhea Pancreatitis
Rare Symptoms - Less than 30% casesIntellectual disability Hernia Intellectual disability, mild Hyperlipidemia Cognitive impairment Prominent superficial veins Abnormality of the face Hyperglycemia Abnormality of the musculature Hepatosplenomegaly Xanthomatosis Coronary artery atherosclerosis Accelerated skeletal maturation Mandibular prognathia Bone cyst Generalized muscular appearance from birth Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Labial hypertrophy Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Long foot Elevated hepatic transaminase High pitched voice Large hands Clitoral hypertrophy Thick hair Tall stature Nephrolithiasis Abnormality of the genital system Hypertrichosis Triangular face Respiratory distress Congestive heart failure Abnormality of the cardiovascular system Infertility Abnormality of lipid metabolism Reduced subcutaneous adipose tissue Glucose intolerance Cholestasis Angina pectoris Abnormality of the ovary Glioma Global developmental delay Hypertelorism Strabismus Cleft palate Cryptorchidism Autoimmunity Ptosis Depressed nasal bridge Optic atrophy Downslanted palpebral fissures Ventriculomegaly Anteverted nares Hydrocephalus Malar flattening Nephropathy Peripheral neuropathy Hyperhidrosis Increased body weight Fatigue Neoplasm Increased waist to hip ratio Decreased resting energy expenditure Overweight Cholelithiasis Decreased fertility Type II diabetes mellitus Dilatation Asthma Weight loss Hypogonadism Abnormality of circulating hormone level Calf muscle hypertrophy Hepatic fibrosis Agenesis of corpus callosum Midface retrusion Narrow mouth Depressivity Aplasia/Hypoplasia of the earlobes Turricephaly Hearing abnormality Abnormality of the skull Skin tags Hypoplasia of the zygomatic bone Choanal stenosis Breech presentation Abnormality of the pancreas Redundant neck skin Anteriorly placed anus Cloverleaf skull Thickened helices Oxycephaly Visceral angiomatosis Craniofacial dysostosis Palmoplantar cutis laxa Prominent scrotal raphe Palmoplantar cutis gyrata Underdeveloped supraorbital ridges Natal tooth Proptosis Choanal atresia Low-set, posteriorly rotated ears Abnormality of the eye Craniosynostosis Prominent nasal bridge Dolichocephaly Palmoplantar keratoderma Overgrowth Small nail Subcutaneous nodule Limited elbow extension Gingival overgrowth Abnormality of the nail Narrow palate Arnold-Chiari malformation Abnormality of vision Reduced number of teeth Redundant skin Melanocytic nevus Bifid scrotum Headache Coarse facial features Hypoplasia of dental enamel Recurrent pneumonia Edema Vomiting Diarrhea Papule Postural instability Dehydration Coarctation of aorta Long eyelashes Pustule Failure to thrive Enlarged kidney Bronchiolitis Recurrent bronchiolitis Ichthyosis Dry skin Hypercholesterolemia Hypotrichosis Scarring Hypodontia Acute hepatitis Jaundice Sparse body hair Sparse and thin eyebrow Hyperbilirubinemia Abnormality of dental enamel Sparse eyelashes Oligodontia Portal hypertension Scaling skin Erythroderma Abnormality of blood and blood-forming tissues Absent hair Parakeratosis Alopecia of scalp Cholangitis Concave nail Hepatitis Orthokeratosis Hypotrichosis of the scalp Scarring alopecia of scalp Sclerosing cholangitis Truncal obesity Ketoacidosis Bruising susceptibility Dysmenorrhea Secondary amenorrhea Hyperuricemia Maternal diabetes Preeclampsia Abnormality of the neck Decreased HDL cholesterol concentration Hyperlipoproteinemia Calf muscle pseudohypertrophy Loss of facial adipose tissue Atherosclerosis Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Marked muscular hypertrophy Neoplasm of the endocrine system Pituitary adenoma Prolactin excess Growth hormone excess Left ventricular hypertrophy Aplasia/Hypoplasia of the skin Generalized hirsutism Alopecia Myopathy Increased serum insulin-like growth factor 1 Prolactinoma Absence of subcutaneous fat Premature coronary artery atherosclerosis Increased adipose tissue around the neck Eruptive xanthomas Increased facial adipose tissue Increased subcutaneous truncal adipose tissue Dorsocervical fat pad Menstrual irregularities Moon facies Myalgia Pituitary growth hormone cell adenoma Pituitary prolactin cell adenoma Galactorrhea Amenorrhea Myocardial infarction Primary amenorrhea Thin skin Preauricular skin furrow
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