Hypertension, and Delayed puberty

Diseases related with Hypertension and Delayed puberty

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


Top matches:

High match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Medium match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Medium match CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as combined 17-hydroxylase/17,20-lyase deficiency|cah due to 17-alpha-hydroxylase deficiency

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypertension
  • Hypospadias


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

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Other less relevant matches:

Medium match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Medium match CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE


CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Medium match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Medium match GITELMAN SYNDROME; GTLMNS


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Medium match CYSTIC FIBROSIS


Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Medium match CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY


Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Delayed puberty

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Hepatomegaly Growth delay Decreased fertility in females Decreased fertility in males Generalized hyperpigmentation Muscle weakness Abdominal pain Elevated hepatic transaminase Dehydration Portal hypertension Seizures Infertility Fatigue Proteinuria

Rare Symptoms - Less than 30% cases


Recurrent infections Arrhythmia Increased circulating ACTH level Congenital adrenal hyperplasia Enlarged polycystic ovaries Malabsorption Hypoplasia of the vagina Adrenocorticotropic hormone excess Female external genitalia in individual with 46,XY karyotype Abnormal sex determination Polydipsia Nausea and vomiting Cranial nerve paralysis Congestive heart failure Hypogonadism Pancreatitis Nephropathy Ventricular arrhythmia Abnormality of the menstrual cycle Impotence Palpitations Azoospermia Absence of secondary sex characteristics Hypogonadotrophic hypogonadism Diabetes mellitus Cirrhosis Headache Hypotension Abnormality of the liver Vertigo Fever Ambiguous genitalia, male Decreased circulating androgen level Decreased serum estradiol Cryptorchidism Reduced bone mineral density Diarrhea Decreased testicular size Hypoglycemia Micropenis Lactic acidosis Delayed skeletal maturation Hypospadias Hyperlipidemia Polycystic ovaries Chronic pancreatitis Focal segmental glomerulosclerosis Decreased serum testosterone level Hepatocellular carcinoma Gout Decreased glomerular filtration rate Xanthelasma Xanthomatosis Renal insufficiency Gynecomastia Male pseudohermaphroditism Decreased fertility Primary adrenal insufficiency Aortic root aneurysm Nausea Hypercalciuria Decreased circulating cortisol level Abnormal lung morphology Wheezing Bronchiectasis Hemoptysis Ventricular tachycardia Bronchitis Hyperkinesis Insulin resistance Male infertility Sinusitis Tachypnea Steatorrhea Prolonged QT interval Clubbing Blurred vision Polyuria Malnutrition Recurrent pneumonia Pulmonary fibrosis Emphysema Asthma Nephrocalcinosis Intestinal obstruction Decreased antibody level in blood Respiratory failure Abdominal distention Hypocalciuria Renal salt wasting Nocturia Hypokalemic metabolic alkalosis Hypokalemic alkalosis Alkalosis Chondrocalcinosis Hypovolemia Hypochloremia Enuresis Tetany Metabolic alkalosis Increased circulating renin level Pollakisuria Periodic paralysis Renal potassium wasting Hypomagnesemia Dyskinesia Recurrent respiratory infections Cough Scarring Respiratory tract infection Carcinoma Gastroesophageal reflux Rhabdomyolysis Dilatation Renal magnesium wasting Episodic fever Hyperventilation Immunodeficiency Respiratory distress Neoplasm Salt craving Exocrine pancreatic insufficiency Flexion contracture Neoplasm of the pancreas Bifid scrotum Choanal stenosis Adrenal hyperplasia Adrenal hypoplasia Femoral bowing Disproportionate tall stature Flat occiput Acne Abnormal vagina morphology Clitoral hypertrophy Accelerated skeletal maturation Tall stature Choanal atresia Ambiguous genitalia Hirsutism Ovarian cyst Perineal hypospadias Broad forehead Increased circulating androgen level Androgen insufficiency Ectopic adrenal gland Abnormality of the labia majora Hyperpigmented genitalia Female sexual dysfunction Abnormality of prenatal development or birth Enlarged ovaries Urogenital sinus anomaly Pear-shaped nose Congenital adrenal hypoplasia Premature adrenarche Adrenogenital syndrome Increased serum testosterone level Ambiguous genitalia, female Arachnodactyly Craniosynostosis Chronic lung disease Rectal prolapse Pancreatic adenocarcinoma Productive cough Obstructive lung disease Secretory diarrhea Chronic infection Nasal polyposis Pneumothorax Recurrent bronchopulmonary infections Ileus Biliary cirrhosis Allergy Abnormality of the pancreas Cor pulmonale Chronic obstructive pulmonary disease Meconium ileus Obstructive azoospermia Abnormality of the pinna Inflammatory abnormality of the skin Narrow mouth Brachycephaly Clinodactyly Midface retrusion Abnormality of the skeletal system Frontal bossing Low-set ears Absent vas deferens Scoliosis Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Cardiac arrest Adrenocorticotropic hormone deficiency Generalized muscle weakness Hyperuricemia Increased serum ferritin Congenital hepatic fibrosis Increased serum iron Abnormality of iron homeostasis Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Acidosis Neutropenia Abnormal bleeding Nephrolithiasis Recurrent bacterial infections Inflammation of the large intestine Protuberant abdomen Hyperpigmentation of the skin Enlarged kidney Oral ulcer Lipemia retinalis Doll-like facies Visual impairment Gait disturbance Myopathy Intellectual disability, mild Hypothyroidism Photophobia Retinopathy Abnormal pyramidal sign Corneal opacity Stage 5 chronic kidney disease Arthropathy Amenorrhea Pigmentary retinopathy Abnormal EKG Pneumonia Jaundice Stroke Heart murmur Hematuria Metabolic acidosis Pulmonary arterial hypertension Hepatoblastoma Spider hemangioma Ketonemia Primary amenorrhea Hypergonadotropic hypogonadism Hypoplasia of the uterus Sparse body hair Hyperaldosteronism Lethargy Sparse axillary hair Sparse pubic hair Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Decreased circulating renin level Primary gonadal insufficiency Dysmenorrhea Abnormality of creatine metabolism Hypervolemia Abnormal circulating aldosterone Cardiomyopathy Splenomegaly Arthritis Dilated cardiomyopathy Aciduria Stereotypy Muscle cramps Internal ophthalmoplegia Sudden loss of visual acuity Decreased circulating ACTH level Increased thyroid-stimulating hormone level Central adrenal insufficiency Female hypogonadism Adrenocorticotropin deficient adrenal insufficiency Bitemporal hemianopia Erectile abnormalities Periodic hypokalemic paresis Abnormality of the pituitary gland Euthyroid hyperthyroxinemia Cranial nerve VI palsy Enlarged pituitary gland Fourth cranial nerve palsy Abnormal visual field test Secondary growth hormone deficiency Abnormality of hair density Heteronymous hemianopia Thyroid crisis Generalized hypotonia Ataxia Constipation Arthralgia Anxiety Erythema Paralysis Paresthesia Confusion Tachycardia Postural instability Decreased female libido Oculomotor nerve palsy Type I diabetes mellitus Weight loss Aminoaciduria Growth abnormality Rickets Hypophosphatemia Dysphasia Renal tubular dysfunction Corneal crystals Nephrogenic diabetes insipidus Retinal pigment epithelial mottling Elevated intracellular cystine Ptosis Tremor Blindness Hyperhidrosis Osteopenia Supraventricular arrhythmia Pallor Progressive visual loss Diplopia Goiter Easy fatigability Pericardial effusion Hyperthyroidism Growth hormone excess Increased circulating gonadotropin level Prolactin excess Male hypogonadism Anemia Menstrual irregularities Hemianopia Maternal virilization in pregnancy



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