Cryptorchidism, and Hematuria

Diseases related with Cryptorchidism and Hematuria

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


Top matches:

High 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

High match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

High match SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME


Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

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Other less relevant matches:

High match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

Low match 46,XY PARTIAL GONADAL DYSGENESIS


46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis|46,xy pgd

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


SOURCES: ORPHANET MENDELIAN

More info about 46,XY PARTIAL GONADAL DYSGENESIS

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hematuria

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Constipation Neoplasm Hypertelorism Strabismus Ventricular septal defect Abnormality of the dentition Gastroesophageal reflux Recurrent urinary tract infections Full cheeks Intellectual disability Anemia Motor delay Delayed puberty Abnormality of cardiovascular system morphology Seizures Irritability Bilateral cryptorchidism Inguinal hernia Proteinuria Hydronephrosis

Rare Symptoms - Less than 30% cases


Urinary incontinence Deeply set eye Premature birth Macroglossia Delayed speech and language development Dysarthria Umbilical hernia Muscular hypotonia Polyhydramnios Mandibular prognathia Proptosis Respiratory insufficiency Hip dislocation Abnormal facial shape Hepatomegaly Overgrowth Feeding difficulties in infancy Vesicoureteral reflux Nystagmus Frontal bossing Behavioral abnormality Feeding difficulties Male infertility Cognitive impairment Micrognathia Failure to thrive Growth delay Low-set, posteriorly rotated ears Long philtrum Arthritis Aggressive behavior Neonatal hypoglycemia Intellectual disability, moderate Large for gestational age Nephroblastoma Epicanthus Dysphagia Intellectual disability, mild Joint hyperflexibility Stage 5 chronic kidney disease Nephropathy Sepsis Self-injurious behavior Osteoporosis Urethral obstruction Facial grimacing Macrocephaly Azoospermia Abnormality of dental enamel Hypoplasia of dental enamel Nephrolithiasis Narrow palate Stereotypy Polydipsia Delayed skeletal maturation Ventriculomegaly Abnormal heart morphology Abnormality of the skeletal system Hernia Pain Joint hypermobility Coarse facial features Achilles tendon contracture Schwannoma Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Broad femoral neck Central apnea Abnormality of earlobe Obstructive sleep apnea Ulnar deviation of finger Deep palmar crease Limited elbow movement Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Soft skin Thickened nuchal skin fold Severe postnatal growth retardation Fasting hypoglycemia Thick upper lip vermilion Abnormal mitral valve morphology Asymmetric septal hypertrophy Large earlobe Broad philtrum Woolly hair Large forehead Verrucae Microscopic hematuria Concave nail Pneumothorax Hyperextensibility of the finger joints Progeroid facial appearance Rhabdomyosarcoma Barrel-shaped chest Megalencephaly Fragile nails Hypoplasia of teeth Failure to thrive in infancy Rhabdomyolysis Abnormality of the skin Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Apraxia Mitral valve prolapse Eczema Hip dysplasia Growth hormone deficiency Cafe-au-lait spot Webbed neck Nevus Tetraplegia Ascites Postural instability Sleep disturbance High, narrow palate Thick vermilion border Wide nose Tachycardia Astigmatism Pulmonic stenosis Hydrops fetalis Abnormality of the hair Neuroblastoma Redundant skin Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Bronchomalacia Pyloric stenosis Hoarse voice Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Pointed chin Fetal distress Deep-set nails Papilloma Podagra Clitoral hypertrophy Hypergonadotropic hypogonadism Gynecomastia Primary amenorrhea Nephrotic syndrome Hypoplasia of penis Ambiguous genitalia Decreased testicular size Micropenis Hypospadias Bowel incontinence Bladder stones Gonadal dysgenesis External genital hypoplasia Excessive purine production Hyperuricosuria Testicular atrophy Focal dystonia Dyslexia Megaloblastic anemia Gout Self-mutilation Hyperuricemia Opisthotonus Athetosis Adrenal insufficiency Increased circulating gonadotropin level Oral-pharyngeal dysphagia Streak ovary Short thumb Renal cyst Anal atresia Abnormality of the labia Vanishing testis Testicular gonadoblastoma Ovarian gonadoblastoma Abnormal internal genitalia Abnormal sex determination Abnormality of the scrotum Female external genitalia in individual with 46,XY karyotype Hypoplasia of the vagina Decreased testosterone in males Sparse axillary hair Primary gonadal insufficiency Decreased fertility in females Urogenital sinus anomaly Elevated circulating luteinizing hormone level Abnormal vagina morphology Bone marrow hypocellularity Decreased serum estradiol Hypoplasia of the radius Absence of secondary sex characteristics Gonadoblastoma Elevated circulating follicle stimulating hormone level Sparse pubic hair Proximal placement of thumb Cerebral palsy Large face Hypopnea Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Cystic renal dysplasia Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Shyness Loose anagen hair Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Cardiomyocyte hypertrophy Macrocephaly at birth Finger clinodactyly Vomiting Spastic gait Clumsiness Choreoathetosis Abnormality of extrapyramidal motor function Chorea Absent thumb Chromosome breakage Rigidity Clinodactyly of the 5th finger Clinodactyly Dystonia Hypertonia Hyperreflexia Enlarged cerebellum Flexion contracture Spasticity Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Arthrogryposis multiplex congenita Hypermetropia High palate Pectus carinatum Cataract Upslanted palpebral fissure Recurrent respiratory infections Hyporeflexia Areflexia Depressivity Thrombocytopenia Microphthalmia Kyphosis Blindness Visual impairment Congenital megaureter Reduced visual acuity Auricular pit Posterior helix pit Hemifacial hypertrophy Anterior creases of earlobe Asymmetry of the thorax Abdominal wall defect Visceromegaly Hemihypertrophy Mild global developmental delay Diastasis recti Abnormal eyebrow morphology Glaucoma Acidosis Nevus flammeus Genu valgum Fine hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Abnormal bleeding Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Long face Carious teeth Thin upper lip vermilion Malabsorption Congenital cataract Platyspondyly Corneal opacity Attention deficit hyperactivity disorder Camptodactyly of finger Joint stiffness Protruding ear Anxiety Neonatal hypotonia EEG abnormality Capillary hemangioma Enlarged kidney Osteoarthritis Dysuria Encopresis Urethral valve Enuresis nocturna Mild proteinuria Urethral stenosis Pyelonephritis Urinary retention Neurogenic bladder Wolff-Parkinson-White syndrome Enuresis Keratoconjunctivitis sicca Nocturnal lagophthalmos Acute kidney injury Hydroureter Polyuria Keratitis Clubbing Dilatation Fever Abnormality of male internal genitalia Abnormality of circulating hormone level Male pseudohermaphroditism Infertility Abnormal facial expression Tremor Abnormality of the ureter Malar flattening Abnormality of the outer ear Abnormality of the face Cardiomegaly Prominent nose Abdominal distention Facial asymmetry Synophrys Abnormality of the kidney Jaundice Brachycephaly Patent ductus arteriosus Splenomegaly Diarrhea Respiratory distress Cleft palate Microcephaly Hypoplastic philtrum Hemolytic-uremic syndrome Overlapping toe Broad-based gait Hemiparesis Status epilepticus Intestinal malrotation Poor speech Sparse scalp hair Open mouth Sparse hair Wrist swelling Short neck Anteverted nares Talipes equinovarus Downslanted palpebral fissures Myopia Depressed nasal bridge Low-set ears Ptosis Dense posterior cortical cataract Hypoammonemia Lentiglobus Cardiomyopathy Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Hydrocephalus Atrial septal defect Vitamin D deficiency Respiratory failure Wide mouth Postnatal growth retardation Apnea Joint laxity Hypertrophic cardiomyopathy Abnormality of the nervous system Carcinoma Hypoglycemia Osteopenia Kyphoscoliosis Hyperkeratosis Cerebral cortical atrophy Edema Hypogonadism Hyperhidrosis Posteriorly rotated ears Severe short stature Pes cavus Arrhythmia Pectus excavatum Absent speech Cerebral atrophy Short nose Myopathy Oligosacchariduria Proximal renal tubular acidosis Abnormality of the metaphysis Deep philtrum Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Hypercalciuria Reduced number of teeth Dysphasia Hypercholesterolemia Neoplasm of the skin Aminoaciduria Nephrocalcinosis Joint contracture of the hand Skin ulcer Clonus Abnormality of epiphysis morphology Amblyopia Dental crowding Subcutaneous nodule Hypophosphatemia Congenital glaucoma Urogenital fistula Taurodontia Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Periodontitis Pathologic fracture Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Rectal atresia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Skeletal muscle atrophy and Camptodactyly, related diseases and genetic alterations Low-set ears and Protruding ear, related diseases and genetic alterations Pain and Hypospadias, related diseases and genetic alterations Flexion contracture and Paralysis, related diseases and genetic alterations

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