Hypertension, and Hypertrichosis

Diseases related with Hypertension and Hypertrichosis

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

Top matches:

Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex.

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENOCORTICAL CARCINOMA

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Other less relevant matches:

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

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

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

Low match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Top 5 symptoms//phenotypes associated to Hypertension and Hypertrichosis

Symptoms // Phenotype % cases
Anxiety Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Lipoatrophy Uncommon - Between 30% and 50% cases
Lipodystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Diabetes mellitus Muscle weakness Peripheral neuropathy Depressivity Cardiomyopathy Intellectual disability, mild Polycystic ovaries Umbilical hernia Macrotia Mandibular prognathia Generalized hirsutism Hypertriglyceridemia Insulin resistance Hyperhidrosis Elevated hepatic transaminase Hepatic steatosis Hirsutism Seizures Arthralgia Splenomegaly Abdominal pain Pain Acanthosis nigricans Psychosis Paralysis Thin skin Nephrolithiasis Large hands Abnormality of lipid metabolism Hepatomegaly Accelerated skeletal maturation Carcinoma Tall stature

Rare Symptoms - Less than 30% cases

Thickened skin Reduced intrathoracic adipose tissue Tachycardia Paresthesia Confusion Narrow chest Nausea and vomiting Labial hypertrophy Hepatosplenomegaly Generalized muscular appearance from birth Deep plantar creases Diarrhea Constipation Vomiting Nausea Decreased fertility in females Abnormal blistering of the skin Triangular face Congenital generalized lipodystrophy Acute pancreatitis Bone cyst Long foot Polyphagia High pitched voice Skeletal muscle hypertrophy Clitoral hypertrophy Hyperinsulinemia Abnormality of the genital system Decreased serum leptin Epidermal acanthosis Cirrhosis Cutaneous photosensitivity Prominent umbilicus Hernia Strabismus Cognitive impairment Coarse facial features Insulin-resistant diabetes mellitus at puberty Abnormality of the skeletal system Generalized lipodystrophy Visual hallucinations Insomnia Fragile skin Hallucinations Thick lower lip vermilion Cystic angiomatosis of bone Paradoxical increased cortisol secretion on dexamethasone suppression test Recurrent infections Abnormality of metabolism/homeostasis Adrenocortical carcinoma Nephropathy Irritability Increased circulating cortisol level Striae distensae Agitation Autoimmunity Abnormality of reproductive system physiology Osteopenia Osteoporosis Short stature Kyphosis Abnormality of the ovary Abnormality of the dentition Glioma Fatigue Angina pectoris Oligomenorrhea Frontal bossing Delayed skeletal maturation Large for gestational age Flared metaphysis Broad forehead Synophrys Long face Wide nose Tapered finger Macroglossia Metaphyseal widening Full cheeks Migraine Osteoarthritis Mitral regurgitation Insulin-resistant diabetes mellitus Short hallux Broad hallux Curly eyelashes Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congestive heart failure Congenital, generalized hypertrichosis Dilatation Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Large sella turcica Pericardial effusion Hyperlipidemia Generalized hypertrichosis Esodeviation Broad hallux phalanx Broad ribs Thick upper lip vermilion Ovoid vertebral bodies Abnormality of the fingernails Thickened calvaria Thin ribs Abnormal heart valve morphology Hoarse voice Sleep apnea Widely spaced teeth Generalized hypotonia Thick vermilion border Short distal phalanx of finger Paraganglioma Hypersomnia Galactorrhea Thick eyebrow Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Platyspondyly Cortical diaphyseal thickening of the upper limbs Global developmental delay Hypertelorism Long penis Finger syndactyly Wide mouth Delayed speech and language development Depressed nasal bridge Epicanthus Wide nasal bridge Skeletal dysplasia Prominent forehead Macrocephaly Anteverted nares Short neck Long philtrum Cardiomegaly Ventricular hypertrophy Cerebral palsy Coxa valga Patent ductus arteriosus Growth abnormality Acne Impotence Elevated alkaline phosphatase Pyloric stenosis Prominent supraorbital ridges Generalized hyperpigmentation Spinal canal stenosis Palpebral edema Joint swelling Bicuspid aortic valve Low anterior hairline Pheochromocytoma Growth hormone excess Broad foot Abnormal toenail morphology Lymphedema Gingival overgrowth Long eyelashes Abnormality of the endocrine system Dysuria Abnormality of the metaphysis Neoplasm of the endocrine system Deep palmar crease Low posterior hairline Anterior hypopituitarism Broad jaw Hypopigmentation of the skin Thick hair Lymphocytosis Myopathy Immunodeficiency Alopecia Proteinuria Hematuria Nephrotic syndrome Premature ovarian insufficiency Glomerulonephritis Glomerulopathy Microscopic hematuria Progeroid facial appearance Membranoproliferative glomerulonephritis Increased serum androstenedione Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Scoliosis Sensorineural hearing impairment Flexion contracture Midface retrusion Severe short stature Glaucoma Retinal detachment Hearing impairment Abnormal serum dehydroepiandrosterone level Type II diabetes mellitus Pigmented micronodular adrenocortical disease Obesity Cerebral cortical atrophy Mental deterioration Bruising susceptibility Round face Truncal obesity Adrenal hyperplasia Mood changes Decreased circulating ACTH level Moon facies Primary hypercortisolism Weight loss Elevated serum 11-deoxycortisol Palpitations Increased body weight Hypokalemia Hyperaldosteronism Adrenocorticotropic hormone deficiency Pollakisuria Lung adenocarcinoma Increased urinary cortisol level Panic attack Increased circulating androgen level Abnormality of urine homeostasis Increased serum estradiol Limitation of joint mobility Subcutaneous nodule Decreased fertility Scarring Congenital hemolytic anemia Compensated hemolytic anemia Respiratory paralysis Abdominal colic Red urine Acute episodes of neuropathic symptoms Growth delay Nystagmus Fever Clinodactyly Abnormality of the kidney Tetraplegia Paranoia Aspiration Hypopigmented skin patches Chronic kidney disease Milia Restlessness Hepatocellular carcinoma Neoplasm of the liver Motor polyneuropathy Dark urine Premature adrenarche Porphyrinuria Pancreatitis Delirium Auditory hallucinations Ectopia lentis Behavioral abnormality Mild short stature Decreased muscle mass Multiple lipomas Aplasia/Hypoplasia of the skin Scleroderma Abnormality of the musculature Impaired pain sensation Lack of skin elasticity Stiff skin Entrapment neuropathy Anemia Arrhythmia Ileus Areflexia Acidosis Jaundice Myalgia Pruritus Hemolytic anemia Metabolic acidosis Hypotension Hyponatremia Hypermelanotic macule Orthostatic hypotension Prolonged neonatal jaundice Widened posterior fossa


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