Cryptorchidism, and Prostate cancer

Diseases related with Cryptorchidism and Prostate cancer

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


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High match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Medium match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Medium match 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT


46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.

46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as 46,xx gonadal dysgenesis, complete, sry-positive|46,xx testicular disorder of sex development|46,xx ovotesticular dsd|xx male, sry-positive|46,xx sex reversal, sry-positive

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Hypogonadism
  • Hypoplasia of penis
  • Ambiguous genitalia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT

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Medium match PERSISTENT MÜLLERIAN DUCT SYNDROME


Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.

PERSISTENT MÜLLERIAN DUCT SYNDROME Is also known as pseudohermaphroditism, male internal|female genital ducts in otherwise normal male|pmds|persistent mÜllerian derivatives|persistent oviduct syndrome|hernia uteri inguinale

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hernia
  • Inguinal hernia
  • Infertility


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PERSISTENT MÜLLERIAN DUCT SYNDROME

Medium match 46,XX SEX REVERSAL 2; SRXX2


46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome

Related symptoms:

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about 46,XX SEX REVERSAL 2; SRXX2

Medium match LEYDIG CELL HYPOPLASIA, TYPE I


Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000). ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23 ) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (OMIM ) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

LEYDIG CELL HYPOPLASIA, TYPE I Is also known as leydig cell agenesis|leydig cell hypoplasia, complete|hypergonadotropic hypogonadism, male, due to lhcgr defect|leydig cell hypoplasia with male pseudohermaphroditism

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEYDIG CELL HYPOPLASIA, TYPE I

Medium match PARTIAL ANDROGEN INSENSITIVITY SYNDROME


Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.

PARTIAL ANDROGEN INSENSITIVITY SYNDROME Is also known as familial incomplete male pseudohermaphroditism, type 1|androgen insensitivity, partial, with or without breast cancer|reifenstein syndrome|partial androgen resistance syndrome|pais

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Osteoporosis
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL ANDROGEN INSENSITIVITY SYNDROME

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Prostate cancer

Symptoms // Phenotype % cases
Hypospadias Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Prostate cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gynecomastia Abnormality of the dentition Microcephaly Coarctation of aorta Bifid scrotum Infertility Hearing impairment Hypoplasia of penis Strabismus Neoplasm Abnormality of male internal genitalia Global developmental delay Seizures Atrial septal defect Scrotal hypoplasia Deeply set eye Hypermetropia Feeding difficulties in infancy Abnormality of the skeletal system Generalized hypotonia Intellectual disability, moderate Male pseudohermaphroditism Delayed skeletal maturation Amenorrhea

Rare Symptoms - Less than 30% cases


Abnormal scrotal rugation Decreased serum testosterone level Truncal obesity Thin upper lip vermilion Micrognathia Short upper lip Hypergonadotropic hypogonadism Tethered cord Growth delay Perineal hypospadias Hyperactivity Joint laxity Decreased testicular size Thick eyebrow Joint hyperflexibility Abnormality of the pinna Aplasia of the uterus Gastroesophageal reflux Low-set ears Abnormal facial shape Ambiguous genitalia True hermaphroditism Ovotestis Urogenital sinus anomaly Abnormality of the uterus Sex reversal Inguinal hernia Polycystic ovaries Hypertension Hyperreflexia Wide nasal bridge Delayed speech and language development Abnormal heart morphology Male infertility High palate Azoospermia Clinodactyly of the 5th finger Constipation Decreased fertility Postnatal growth retardation EEG abnormality Primary amenorrhea Bimanual synkinesia Microphallus Hirsutism Hypoplasia of the maxilla Hypopituitarism Prominent nose Dental malocclusion Impulsivity Otitis media Low posterior hairline Thin vermilion border Iris coloboma Oral cleft Delayed puberty Coloboma Broad thumb Long eyelashes Agenesis of corpus callosum Clinodactyly Abnormality of cardiovascular system morphology Cleft palate Scoliosis Patent ductus arteriosus Failure to thrive Muscular hypotonia Cataract Short attention span Ptosis Feeding difficulties Hypothyroidism Villous atrophy Broad columella Abnormality of the clavicle Abnormality of the voice Epicanthus Enuresis Nasal speech Hyperextensibility of the finger joints Arrhythmia Downslanted palpebral fissures 11 pairs of ribs Trigonocephaly Speech apraxia Frontal bossing Dysphagia Ventricular septal defect Respiratory distress Abnormality of the hand Behavioral abnormality Syndactyly Immunodeficiency Pectus excavatum Short columella Stiff neck Language impairment Varicocele Congenital pseudoarthrosis of the clavicle Persistent left superior vena cava Congenital posterior urethral valve Epididymal cyst Enlarged naris Curved fingers Broad fingertip Abnormal soft palate morphology Generalized cerebral atrophy/hypoplasia Short clavicles Enlarged joints Clubbing Mesocardia Celiac disease Expressive language delay High pitched voice Preauricular pit Flexion contracture Sprengel anomaly Lipoma Cone-shaped epiphyses of the phalanges of the hand Spinal dysraphism Pseudoarthrosis Proportionate short stature Hypoplasia of dental enamel Glaucoma Abnormal cornea morphology Parietal foramina Abnormality of the cervical spine Facial grimacing Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Medulloblastoma Prominent fingertip pads Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Hypoplastic iliac wing Low hanging columella Frontal upsweep of hair Duane anomaly Obstructive sleep apnea Deviated nasal septum Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Premature thelarche Keloids Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Capillary hemangioma Self-mutilation Polydactyly Pulmonic stenosis Mitral regurgitation Convex nasal ridge Recurrent fractures Single transverse palmar crease Highly arched eyebrow Joint hypermobility Unsteady gait Leukemia Nephrocalcinosis Respiratory tract infection Abnormality of the kidney Pes planus Retrognathia Polyhydramnios Proptosis Autism Narrow mouth Aganglionic megacolon Dental crowding Patellar dislocation Broad hallux Poor coordination Overweight Shawl scrotum Neuroblastoma Dislocated radial head Neurofibromas Congenital glaucoma Delayed cranial suture closure Laryngomalacia Stereotypy Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Narrow palate Low anterior hairline Wide anterior fontanel Cafe-au-lait spot Exotropia Abnormality of the fingernails Upslanted palpebral fissure Finger clinodactyly Large earlobe Heterotopia Hyperpigmentation of the skin Short toe Narrow palpebral fissure Prominent supraorbital ridges Hammertoe Abnormality of neuronal migration External genital hypoplasia Abnormality of the hip bone Thickened calvaria Broad foot Broad neck Ketoacidosis Short 5th finger Shortening of all distal phalanges of the fingers Narrow forehead Scheuermann-like vertebral changes Abnormality of circulating hormone level Bilateral cryptorchidism Hematuria Hernia Abnormality of female internal genitalia Growth abnormality Hypoplasia of the prostate Camptodactyly of toe Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Hypertrichosis Full cheeks Hypoplasia of the uterus Hypotelorism Reduced number of teeth Anosmia Holoprosencephaly Hypogonadotrophic hypogonadism Choanal atresia Myocardial infarction Renal agenesis Ectrodactyly Vesicoureteral reflux Cleft upper lip Cleft lip Abnormality of the nervous system Osteopenia Sensorineural hearing impairment Unilateral renal agenesis Thromboembolism Tapered finger Intellectual disability, severe Blepharophimosis Sparse hair Coarse facial features Macrotia Obesity Kyphosis Macrocephaly Hyposmia Skeletal muscle atrophy Peripheral neuropathy Visual impairment Nystagmus Gonadotropin deficiency Pain Gonadal dysgenesis Generalized hirsutism Neurological speech impairment Kyphoscoliosis Umbilical hernia Conductive hearing impairment Hydronephrosis Arthritis Anxiety Aggressive behavior Telecanthus Joint stiffness Wide mouth Craniosynostosis Camptodactyly of finger Short philtrum Prominent nasal bridge Small for gestational age Posteriorly rotated ears Underdeveloped nasal alae Short thumb Recurrent otitis media Short palpebral fissure Interphalangeal joint contracture of finger Apraxia Microdontia Broad nasal tip Malabsorption Triangular face Small hand Downturned corners of mouth Bulbous nose Smooth philtrum Poor speech Mandibular prognathia Babinski sign Elevated circulating follicle stimulating hormone level Primary gonadal insufficiency Abnormal vas deferens morphology Testicular gonadoblastoma Abnormal internal genitalia Enlarged ovaries Abnormal external genitalia Female hypogonadism Breast aplasia Osteoporosis Absence of secondary sex characteristics Male hypogonadism Increased circulating gonadotropin level Secondary amenorrhea Testicular dysgenesis Hypoplasia of the vagina Hyoplasia of the Leydig cells Clitoral hypertrophy Dilatation Brachydactyly Headache Intellectual disability, mild Vomiting Short neck Gait disturbance Intrauterine growth retardation Dysarthria Oligospermia Cognitive impairment Incomplete male pseudohermaphroditism Gonadal neoplasm Absent vas deferens Female pseudohermaphroditism Abnormality of the rib cage Autistic behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Hyporeflexia, related diseases and genetic alterations Wide nasal bridge and Progressive visual loss, related diseases and genetic alterations High palate and Premature birth, related diseases and genetic alterations Immunodeficiency and Recurrent infections, related diseases and genetic alterations

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