Cryptorchidism, and Pheochromocytoma

Diseases related with Cryptorchidism and Pheochromocytoma

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

Top matches:

Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

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

Other less relevant matches:

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 10; NS10

Low match CARNEY COMPLEX

Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Pheochromocytoma

Symptoms // Phenotype % cases
Neurofibromas Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pulmonic stenosis Ptosis Cafe-au-lait spot Overgrowth Bicuspid aortic valve Short neck Hypertelorism Low posterior hairline Hearing impairment Abnormality of cardiovascular system morphology Micrognathia Abnormal facial shape Hirsutism Low-set ears Hypertension Epicanthus Schwannoma Increased circulating cortisol level Testicular neoplasm Pain Carcinoma

Rare Symptoms - Less than 30% cases

Weight loss Thyroid follicular hyperplasia Pituitary prolactin cell adenoma Coarctation of aorta Tall stature Iris coloboma Abnormality of the skin Cardiac myxoma Joint hypermobility Stroke Profuse pigmented skin lesions Dental crowding Leukemia Thin upper lip vermilion Polyhydramnios Proptosis Muscle weakness Constipation Patent ductus arteriosus Fever Multiple lentigines Congestive heart failure Atrial septal defect Nevus Abnormality of the sternum Hypermelanotic macule Growth hormone excess Macrocephaly Webbed neck Pituitary adenoma Long philtrum Thyroid carcinoma Freckling Red hair Broad forehead Global developmental delay Malar flattening Posteriorly rotated ears Telecanthus Tethered cord Peripheral neuropathy Umbilical hernia Hydronephrosis Narrow palate Pectus excavatum Aganglionic megacolon Respiratory distress Delayed speech and language development Intellectual disability, mild Failure to thrive Generalized hypotonia Seizures Hernia Inguinal hernia Strabismus Muscular hypotonia Neuroma High palate Vestibular Schwannoma Abnormality of the dentition Microcephaly Hydrocephalus Colon cancer Ventricular septal defect Dysphagia Depressed nasal bridge Meningocele Arachnoid cyst Wide intermamillary distance Specific learning disability Ataxia Myxoid subcutaneous tumors Cutaneous myxoma Syringomyelia Relative macrocephaly Cubitus valgus Multiple cafe-au-lait spots Uterine leiomyoma Arnold-Chiari type I malformation Atresia of the external auditory canal Vertebral fusion Optic nerve hypoplasia Aplasia/Hypoplasia of the optic nerve Cranial asymmetry Abnormal pulmonary valve morphology Unilateral cryptorchidism Speech apraxia Large for gestational age Back pain Accelerated skeletal maturation Nasal speech Midface retrusion Broad nasal tip Slender long bone Pectus carinatum Autistic behavior Thickened calvaria Prominent metopic ridge Thick lower lip vermilion Paraganglioma Follicular thyroid carcinoma Myalgia Gynecomastia Biconcave vertebral bodies Palpitations Sclerosis of skull base Confusion Papule Abnormality of the eye Proximal muscle weakness Hemangioma Dyspnea Large sella turcica Osteoporosis Fatigue Dural ectasia Abnormality of the middle ear ossicles Basilar impression Increased body weight Ischemic stroke Follicular hyperplasia Blue irides Fibroma Broad neck Osteolytic defects of the phalanges of the hand Generalized hypopigmentation Craniofacial hyperostosis Abnormality of the rib cage Macroorchidism Bipolar affective disorder Sarcoma Striae distensae Generalized osteosclerosis Low back pain Macule Heart murmur Platybasia Precocious puberty Acute lymphoblastic leukemia Prominent nasolabial fold Coarse hair Abnormal vertebral morphology Prune belly Microcolon Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Urethral obstruction Narrow face Volvulus Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Hydroureter Megacystis Barrett esophagus Malnutrition Kyphosis Joint hyperflexibility Dolichocephaly Scarring Hyperlordosis Apnea Conductive hearing impairment Kyphoscoliosis High, narrow palate Abnormality of the skeletal system Gastrointestinal obstruction Gait disturbance Motor delay Feeding difficulties Sensorineural hearing impairment Urinary incontinence Abnormal form of the vertebral bodies Megaduodenum Hypoperistalsis Anonychia Increased bone mineral density Secundum atrial septal defect Skeletal muscle atrophy Abdominal pain Pneumonia Dilatation Diarrhea Vomiting Myopathy Anteverted nares Arnold-Chiari malformation Osteolysis Cleft palate Inguinal freckling Pectus excavatum of inferior sternum Optic nerve glioma Smooth philtrum Superior pectus carinatum Axillary freckling Lisch nodules Sleep apnea Low-set, posteriorly rotated ears Intestinal obstruction Microretrognathia Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Horseshoe kidney Wormian bones Recurrent urinary tract infections Interphalangeal joint contracture of finger Intestinal malrotation Joint stiffness Round face Vesicoureteral reflux Abdominal distention Arachnodactyly Narrow chest Ophthalmoplegia Prominent nasal bridge Abnormality of the liver Intra-oral hyperpigmentation Prolactin excess Abnormality of circulating adrenocorticotropin level Joint laxity Unsteady gait Coloboma Respiratory tract infection Postnatal growth retardation Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Deeply set eye Highly arched eyebrow EEG abnormality Pes planus Retrognathia Gastroesophageal reflux Autism Narrow mouth Polydactyly Glaucoma Thick eyebrow Single transverse palmar crease Agenesis of corpus callosum Exotropia Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Spina bifida occulta Low anterior hairline Wide anterior fontanel Stereotypy Recurrent fractures Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Convex nasal ridge Otitis media Prominent nose Dental malocclusion Hypoplasia of the maxilla Hyperactivity Clinodactyly of the 5th finger Congenital glaucoma Choriocarcinoma Myelomeningocele Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Nephroblastoma Facial asymmetry Testicular teratoma Testicular microlithiasis Dysgerminoma Hemihypertrophy Testicular dysgenesis Teratoma Retinoblastoma Gonadal dysgenesis Male infertility Azoospermia Infertility Abnormality of metabolism/homeostasis Communicating hydrocephalus Adrenocortical adenoma Delayed skeletal maturation Hyperreflexia Abnormal heart morphology Arrhythmia Hypospadias Immunodeficiency Syndactyly Behavioral abnormality Frontal bossing Wide nasal bridge Flexion contracture Asymmetric growth Cataract Growth delay Intellectual disability Hemiareflexia Hemifacial hypertrophy Leiomyosarcoma Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Truncal obesity Dislocated radial head Sertoli cell neoplasm Neoplasm of the skin Hypoplasia of the musculature Stomach cancer Ovarian cyst Parathyroid adenoma Neoplasm of the endocrine system Neoplasm of the pancreas Ovarian neoplasm Polycystic ovaries Subcutaneous nodule Neoplasm of the breast Sudden cardiac death Mitral stenosis Curly hair Abnormality of coagulation Sparse and thin eyebrow Abnormal cardiac septum morphology Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Enlarged polycystic ovaries Adrenocortical carcinoma High axial triradius Uterine neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Blue nevus Hepatocellular adenoma Pigmented micronodular adrenocortical disease Histiocytoma Bronchogenic cyst Hypertension associated with pheochromocytoma Thyroid adenoma Nodular goiter Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Abnormal prolactin level Recurrent paroxysmal headache Osteochondroma Pancreatic adenocarcinoma Abnormal number of teeth Papillary cystadenoma of the epididymis Neuroblastoma Short attention span Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Hypoplastic iliac wing Broad distal phalanx of finger Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Rhabdomyosarcoma Phonophobia Enlarged tonsils Duplication of phalanx of hallux Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Dyscalculia Facial grimacing Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Short nasal bridge


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