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.

Top matches:

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 mutations

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Infertility
  • Hepatic steatosis
  • Epidermal acanthosis


SOURCES: OMIM ORPHANET MENDELIAN

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:

  • Hypertension
  • Obesity
  • Hypogonadism
  • Diabetes mellitus
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about OBESITY

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. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

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|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Other less relevant 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

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Edema
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2

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 type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

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 mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

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 syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

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). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

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|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

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 syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

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% cases

Diabetes 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% cases

Intellectual 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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