Hypertension, and Micropenis

Diseases related with Hypertension and Micropenis

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

Top matches:

Medium match DENYS-DRASH SYNDROME

Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.

DENYS-DRASH SYNDROME Is also known as drash syndrome|wilms tumor-disorder of sex development syndrome|wilms tumor-dsd syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Renal insufficiency
  • Micropenis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENYS-DRASH 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

Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Other less relevant matches:

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

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

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

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

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

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Male pseudohermaphroditism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the genital system Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Strabismus Delayed puberty Hearing impairment Ambiguous genitalia Primary amenorrhea Neoplasm Congenital adrenal hyperplasia Broad forehead Ptosis Seizures Scoliosis Short nose Posteriorly rotated ears Low-set ears Respiratory insufficiency Cleft palate Short stature Nystagmus Decreased testicular size Ambiguous genitalia, male Myopia Growth delay Amenorrhea Renal insufficiency Nephroblastoma Obesity Stage 5 chronic kidney disease Delayed speech and language development

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Hernia Recurrent infections Short neck Congestive heart failure Intellectual disability, mild Dilatation Unilateral renal agenesis Behavioral abnormality Congenital diaphragmatic hernia Abnormal sex determination Decreased fertility in males Female external genitalia in individual with 46,XY karyotype Adrenocorticotropic hormone excess Hypoplasia of the vagina Decreased fertility in females Enlarged polycystic ovaries Increased circulating ACTH level Missing ribs Absence of secondary sex characteristics Decreased circulating androgen level Ambiguous genitalia, female Aniridia Microcephaly Wide nasal bridge Brachydactyly Epicanthus Syndactyly Cataract Muscular hypotonia Sensorineural hearing impairment Micrognathia Decreased serum testosterone level Autistic behavior Hypertelorism Underdeveloped nasal alae Hirsutism Macrocephaly Abnormality of the pinna Brachycephaly Polydactyly Midface retrusion Coloboma Abnormality of the skeletal system Pulmonic stenosis Decreased serum estradiol Autism Edema Atrial septal defect Gonadoblastoma Diffuse mesangial sclerosis Aganglionic megacolon Tapered finger Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Nephropathy Prominent nasal bridge Flexion contracture Decreased circulating cortisol level Adrenogenital syndrome Gynecomastia Accelerated skeletal maturation Hypokalemia Bifid scrotum Hyperaldosteronism Adrenal hyperplasia Proteinuria Decreased circulating renin level Gonadal dysgenesis Perineal hypospadias Reduced bone mineral density Primary adrenal insufficiency Polycystic ovaries Generalized hyperpigmentation Aortic root aneurysm Hypoplasia of the uterus Decreased fertility Osteoporosis Delayed skeletal maturation Failure to thrive Pectus carinatum Triangular face Overgrowth Chest pain Syncope Protruding ear Hypertrophic cardiomyopathy Conductive hearing impairment Webbed neck Undetectable electroretinogram Mitral regurgitation Myocardial infarction Depressed nasal ridge Macular dystrophy Kyphoscoliosis Cafe-au-lait spot Aortic valve stenosis Scapular winging Spina bifida occulta Tricuspid regurgitation Mutism Radial deviation of finger Clubbing Anosmia Neonatal hypotonia Truncal obesity Mandibular prognathia Pain Abnormality of the ovary Vaginal atresia Menstrual irregularities Tapetoretinal degeneration Broad foot Microphallus Biliary tract abnormality Nephrogenic diabetes insipidus Hydrometrocolpos Poor coordination Septate vagina Foot polydactyly Fatigue Hyperkeratosis Nephronophthisis Pterygium Abnormality of the genitourinary system Kyphosis Abnormality of cardiovascular system morphology Depressivity Pectus excavatum Arrhythmia Abnormal heart morphology Gait imbalance Alopecia External genital hypoplasia Cardiomyopathy Elevated circulating follicle stimulating hormone level Cubitus valgus Pyloric stenosis Attention deficit hyperactivity disorder Talipes Smooth philtrum Flat face Small hand Renal cyst Renal agenesis Psychosis Short toe Pointed chin Hemivertebrae Narrow palpebral fissure Microretrognathia Aortic regurgitation Bilateral ptosis Wide mouth Severe intrauterine growth retardation Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Multiple renal cysts Arnold-Chiari type I malformation Hand polydactyly Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Anophthalmia Language impairment Blepharophimosis Deeply set eye Bilateral cryptorchidism Abnormal mitral valve morphology Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Hyposmia Hypoplasia of the ovary Angina pectoris Situs inversus totalis Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Third degree atrioventricular block Numerous nevi EEG abnormality Malar flattening Macrotia Gastroesophageal reflux Hyperactivity Inguinal hernia Microphthalmia Immunodeficiency Anteverted nares Coronary artery aneurysm Ventriculomegaly Intrauterine growth retardation Motor delay Feeding difficulties Cognitive impairment Aplasia of the ovary Bicuspid aortic valve Astigmatism Hepatic fibrosis Disproportionate tall stature Tachycardia Frontal bossing Patent ductus arteriosus Clinodactyly Narrow mouth Ventricular septal defect Craniosynostosis Arachnodactyly Choanal atresia Tall stature Clitoral hypertrophy Acne Flat occiput Femoral bowing Gonadal tissue inappropriate for external genitalia or chromosomal sex Adrenal hypoplasia Choanal stenosis Ovarian cyst Abnormal vagina morphology Urogenital sinus anomaly Abnormality of the menstrual cycle Increased serum testosterone level Premature adrenarche Congenital adrenal hypoplasia Pear-shaped nose Enlarged ovaries Increased circulating androgen level Abnormality of prenatal development or birth Female sexual dysfunction Bulbous nose Ovarian gonadoblastoma Abnormality of the labia majora Hyperconvex nail Sparse pubic hair Sparse axillary hair Elevated circulating luteinizing hormone level Abnormal EKG Primary gonadal insufficiency Dysmenorrhea Sparse body hair Abnormality of creatine metabolism Hypergonadotropic hypogonadism Hypervolemia Abnormal circulating aldosterone Contractures of the interphalangeal joint of the thumb Fever Agitation True hermaphroditism Cupped ear Weight loss Abnormal autonomic nervous system physiology Pallor Lethargy Abdominal distention Glomerulonephritis Glomerulopathy Status epilepticus Abnormal renal physiology Uterus didelphys Low-grade fever Streak ovary Anuria Hyperpigmented genitalia Ectopic adrenal gland Dental crowding Reduced visual acuity Congenital ptosis Parietal foramina Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Ataxia High palate Muscle weakness Visual impairment Steroid-resistant nephrotic syndrome Rod-cone dystrophy Hypogonadism Diabetes mellitus Glaucoma Retinopathy Sparse lateral eyebrow Neurological speech impairment Paraplegia Retinal degeneration Iris coloboma Postaxial polydactyly Retinal dystrophy High, narrow palate Short foot Hypodontia Asthma Specific learning disability Pigmentary retinopathy Postaxial hand polydactyly Left ventricular hypertrophy Craniofacial dysostosis Decreased skull ossification Androgen insufficiency Hypothyroidism Maternal virilization in pregnancy Hypokalemic alkalosis Female pseudohermaphroditism Metabolic alkalosis Alkalosis Abnormal facial shape Increased circulating cortisol level Secondary amenorrhea Anemia Failure to thrive in infancy Downslanted palpebral fissures Generalized muscle weakness Feeding difficulties in infancy Abnormality of metabolism/homeostasis High forehead Depressed nasal tip Telecanthus Headache Short philtrum Downturned corners of mouth Single transverse palmar crease Broad nasal tip Prominent nose Myopathy Wormian bones Cutaneous syndactyly Sparse eyebrow Self-injurious behavior Turricephaly Exostoses Absent nasal bridge


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