Hypertension, and Amenorrhea

Diseases related with Hypertension and Amenorrhea

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

Top matches:

Medium match FRASIER SYNDROME

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FRASIER SYNDROME

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, 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

Other less relevant matches:

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

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

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Top 5 symptoms//phenotypes associated to Hypertension and Amenorrhea

Symptoms // Phenotype % cases
Primary amenorrhea Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Male pseudohermaphroditism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hirsutism Diabetes mellitus Osteoporosis Obesity Ambiguous genitalia Hypospadias Gynecomastia Hypokalemia Congenital adrenal hyperplasia Polycystic ovaries Muscle weakness Infertility Stage 5 chronic kidney disease Ambiguous genitalia, male Abnormality of the kidney Renal insufficiency Proteinuria

Rare Symptoms - Less than 30% cases

Dysmenorrhea Decreased testicular size Hypoplasia of the uterus Decreased fertility Generalized hyperpigmentation Edema Hearing impairment Intellectual disability Increased circulating ACTH level Oligomenorrhea Abnormality of the ovary Adrenocorticotropic hormone excess Azoospermia Cirrhosis Lethargy Truncal obesity Vaginal atresia Fever Hypogonadism Cleft palate Splenomegaly Osteopenia Congestive heart failure Hepatomegaly Delayed puberty Nystagmus Failure to thrive Hyperaldosteronism Ovarian gonadoblastoma Myopathy Thin skin Streak ovary Decreased serum estradiol Generalized hirsutism Gonadoblastoma Abnormality of the genital system Increased circulating cortisol level Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Secondary amenorrhea Adrenal hyperplasia Nephrotic syndrome Nephroblastoma Alkalosis Short stature Adrenogenital syndrome Hypergonadotropic hypogonadism Decreased circulating renin level Skeletal muscle atrophy Fatigue Kyphosis Depressivity Vertebral compression fractures Alopecia Bruising susceptibility Pituitary adenoma Increased body weight Round face Nephrolithiasis Glucose intolerance Emotional lability Meningioma Acne Epidermal acanthosis Loss of gluteal subcutaneous adipose tissue Striae distensae Hepatic steatosis Hyperparathyroidism Marked muscular hypertrophy Loss of subcutaneous adipose tissue in limbs Abnormality of skeletal muscle fiber size Maternal diabetes Hyperinsulinemia Skeletal muscle hypertrophy Lipodystrophy Atherosclerosis Coronary artery atherosclerosis Pancreatitis Reduced subcutaneous adipose tissue Poor wound healing Lipoatrophy Aplasia/Hypoplasia of the skin Abnormality of the musculature Hyperuricemia Insulin-resistant diabetes mellitus Preeclampsia Hypertriglyceridemia Abnormality of the neck Acanthosis nigricans Prominent superficial veins Insulin resistance Xanthomatosis Decreased HDL cholesterol concentration Hyperlipoproteinemia Calf muscle pseudohypertrophy Abnormality of the face Myocardial infarction Hyperglycemia Loss of facial adipose tissue Eclampsia Prominent veins on trunk Ecchymosis Syndactyly Abdominal obesity Clubbing High, narrow palate Short foot Hypodontia Asthma Specific learning disability Pigmentary retinopathy Postaxial hand polydactyly Aganglionic megacolon Left ventricular hypertrophy Dental crowding Hepatic fibrosis Situs inversus totalis Bicuspid aortic valve Anosmia Radial deviation of finger Postaxial polydactyly Gait imbalance Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Undetectable electroretinogram Tricuspid regurgitation Broad foot Poor coordination Foot polydactyly Nephronophthisis External genital hypoplasia Macular dystrophy Retinal dystrophy Iris coloboma Biconcave vertebral bodies High palate Facial erythema Abnormality of the menstrual cycle Peripheral edema Mood changes Menometrorrhagia Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Abnormal fear/anxiety-related behavior Psychotic mentation Global developmental delay Ataxia Strabismus Cataract Delayed speech and language development Retinal degeneration Reduced visual acuity Astigmatism Paraplegia Pulmonic stenosis Neurological speech impairment Retinopathy Coloboma Polydactyly Visual impairment Glaucoma Rod-cone dystrophy Myalgia Macrocephaly Myopia Brachydactyly Hypertrophic cardiomyopathy Bilateral renal agenesis Hepatosplenomegaly Clitoral hypertrophy Abnormal sex determination Abnormality of creatine metabolism Decreased circulating androgen level Hypervolemia Abnormal circulating aldosterone Hypoglycemia Carcinoma Abnormality of the cardiovascular system Recurrent urinary tract infections Growth abnormality Sarcoma Precocious puberty Abnormality of the thorax Adrenal insufficiency Female external genitalia in individual with 46,XY karyotype Lipoma Renal salt wasting Astrocytoma Abnormal spermatogenesis Adrenocortical carcinoma Premature pubarche Reduced amygdala volume Pain Cardiomyopathy Arrhythmia Abdominal pain Elevated hepatic transaminase Arthritis Decreased fertility in males Hypoplasia of the vagina Dilated cardiomyopathy Hypokalemic alkalosis Increased circulating gonadotropin level Sex reversal Gonadal dysgenesis with female appearance, male Headache Abnormality of metabolism/homeostasis Feeding difficulties in infancy Generalized muscle weakness Accelerated skeletal maturation Failure to thrive in infancy Bifid scrotum Metabolic alkalosis Perineal hypospadias Female pseudohermaphroditism Delayed skeletal maturation Primary gonadal insufficiency Reduced bone mineral density Sparse body hair Aortic root aneurysm Primary adrenal insufficiency Abnormal EKG Sparse axillary hair Sparse pubic hair Decreased circulating cortisol level Elevated circulating follicle stimulating hormone level Decreased serum testosterone level Absence of secondary sex characteristics Elevated circulating luteinizing hormone level Enlarged polycystic ovaries Decreased fertility in females Abnormality of the liver Hyperpigmentation of the skin Gonadal tissue inappropriate for external genitalia or chromosomal sex Hernia Bicornuate uterus Abnormality of female internal genitalia Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Respiratory insufficiency Recurrent infections Weight loss Non-midline cleft lip Pallor Nephropathy Abdominal distention Congenital diaphragmatic hernia Glomerulosclerosis Glomerulonephritis Aniridia Abnormal renal physiology Diffuse mesangial sclerosis Ambiguous genitalia, female Uterus didelphys Low-grade fever Anuria True hermaphroditism Breech presentation Tracheoesophageal fistula Hypogonadotrophic hypogonadism Epicanthus Portal hypertension Impotence Arthropathy 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 Hypertelorism Abnormal facial shape Low-set ears Talipes equinovarus Unilateral renal agenesis Abnormality of cardiovascular system morphology Retrognathia Talipes Falls Pulmonary hypoplasia Renal agenesis Oligohydramnios Renal hypoplasia Depressed nasal ridge Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Polycystic kidney dysplasia Septate vagina


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