Cryptorchidism, and Glomerulonephritis

Diseases related with Cryptorchidism and Glomerulonephritis

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


Top matches:

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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 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

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Other less relevant matches:

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match MEACHAM SYNDROME


Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

MEACHAM SYNDROME Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|meacham-winn-culler syndrome

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEACHAM SYNDROME

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low match SPERMATOGENIC FAILURE 28; SPGF28


Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Cryptorchidism
  • Infertility
  • Azoospermia
  • Tubular atrophy
  • Elevated circulating follicle stimulating hormone level


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 28; SPGF28

Low match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Low 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Glomerulonephritis

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Spasticity Intellectual disability Micrognathia Microcephaly Stage 5 chronic kidney disease Hernia Glaucoma Renal insufficiency Micropenis Cerebellar hypoplasia Inguinal hernia Carious teeth Ataxia Pectus excavatum Scoliosis Abnormal facial shape Pain Hematuria Coarctation of aorta Constipation Microphthalmia Visual impairment Cataract Neoplasm Short stature Epicanthus Failure to thrive Cognitive impairment Growth delay Diffuse mesangial sclerosis Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Depressivity Attention deficit hyperactivity disorder Open mouth Dehydration Full cheeks Everted lower lip vermilion Ventriculomegaly Joint hyperflexibility Behavioral abnormality Genu valgum Malabsorption Hip dislocation Kyphosis Corneal opacity Protruding ear Joint stiffness Feeding difficulties Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Blindness Intellectual disability, moderate Anxiety Nystagmus Deeply set eye Umbilical hernia Long philtrum Gastroesophageal reflux Recurrent respiratory infections Amblyopia Nephrolithiasis Hypoplasia of the corpus callosum Nephrocalcinosis Aortic valve stenosis Lissencephaly Abnormal heart morphology Elevated serum creatine phosphokinase Hypothyroidism Developmental regression Tetralogy of Fallot Narrow forehead Hypoplasia of penis Hypoplastic left heart Midface retrusion Edema Ichthyosis Nephrotic syndrome Hypocalcemia Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Infertility Patent ductus arteriosus Atrial septal defect Abnormality of dental enamel Hypertension Azoospermia Hypercalciuria Abnormality of the voice Chronic otitis media Obsessive-compulsive behavior Open bite Multiple renal cysts Lacrimation abnormality Hydronephrosis Intrauterine growth retardation Vesicoureteral reflux Recurrent urinary tract infections Polyuria Enuresis Urethral stenosis Sensorineural hearing impairment Ptosis Delayed speech and language development Patellar dislocation Ventricular septal defect Abdominal pain Spina bifida occulta Oral cleft Cleft palate Abnormality of the neck Kyphoscoliosis Down-sloping shoulders Hypogonadotrophic hypogonadism Hemivertebrae Motor delay Coarse facial features EEG abnormality Dysarthria Hypertelorism Neoplasm of the skin Wide nasal bridge Cleft lip Macrocephaly Arachnodactyly Downslanted palpebral fissures Hydrocephalus Frontal bossing Nephritis Mandibular prognathia Coloboma Abnormality of the ribs Hemiparesis Bladder diverticulum Pulmonary artery stenosis Blue irides Vocal cord paralysis Retinal vascular tortuosity Thyroid hypoplasia Abnormality of the vasculature Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Hypoplasia of the zygomatic bone Poor coordination Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Soft skin Nevus flammeus Arnold-Chiari type I malformation Overriding aorta Aortic arch aneurysm Posterior embryotoxon Increased nuchal translucency Abnormal glucose tolerance Abnormal renal morphology Abnormality of lipid metabolism Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Cystic renal dysplasia Decreased plasma carnitine Periorbital fullness Gait imbalance Peptic ulcer Abnormality of refraction Cerebral ischemia Dyslexia Abnormality of the cerebral vasculature Parathyroid hyperplasia Periorbital edema Rectal prolapse Large earlobe Arterial stenosis Tubulointerstitial nephritis Dysgraphia Right ventricular hypertrophy Abnormality of nervous system morphology Phonophobia Chronic constipation Villous atrophy Vertebral segmentation defect Megalocornea Gingival overgrowth Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Pointed chin Increased body weight Increased bone mineral density Narrow face Hoarse voice Visual loss Involuntary movements Ischemic stroke Abnormal form of the vertebral bodies Mitral regurgitation Recurrent otitis media Myocardial infarction Thick lower lip vermilion Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Brachycephaly Abnormality of extrapyramidal motor function Sacral dimple Infantile muscular hypotonia Insomnia Unilateral renal agenesis Restlessness Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Nocturia Premature graying of hair Hallux valgus Loss of consciousness Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Portal hypertension Schizophrenia Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Cholelithiasis Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Obsessive-compulsive trait Bifid ribs Synostosis of joints Elevated circulating follicle stimulating hormone level Oligohydramnios Sloping forehead Convex nasal ridge Camptodactyly Narrow mouth Cerebral atrophy Cerebellar atrophy Anteverted nares High palate Low-set ears Varicocele Elevated circulating luteinizing hormone level Tubular atrophy Postnatal microcephaly Absent testis Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal impaired awareness seizure Brachydactyly Recurrent bacterial infections Lymphopenia Hypertriglyceridemia Epidermal acanthosis Focal-onset seizure Pachygyria Leukodystrophy Mental deterioration Hypoplasia of the brainstem Abnormality of circulating hormone level Male pseudohermaphroditism Male infertility Bilateral cryptorchidism Optic nerve dysplasia Renal cortical cysts Type II lissencephaly Retinal dysplasia Anencephaly Occipital encephalocele Absent septum pellucidum Cortical dysplasia Congenital muscular dystrophy Cortical gyral simplification Severe muscular hypotonia Opacification of the corneal stroma Renal dysplasia Heterotopia Encephalocele Decreased testicular size Dandy-Walker malformation Renal cyst Muscular dystrophy Agenesis of corpus callosum Hypertensive crisis Hand clenching Corpus callosum atrophy Retinopathy Abnormality of the nervous system Abnormality of the bladder Unilateral renal hypoplasia Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Calcification of the aorta Functional abnormality of male internal genitalia Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Mitral valve prolapse Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Stellate iris Descending aorta hypoplasia Hypoglycemia Anomalous pulmonary venous return Hypogonadism Immunodeficiency Abnormality of the skeletal system Peripheral neuropathy Pulmonary sequestration Septate vagina Abnormality of the fallopian tube Crossed fused renal ectopia Hydrometrocolpos Conotruncal defect Aplasia of the uterus Abnormal vagina morphology Vaginal atresia Vocal cord dysfunction Abnormality of the spleen Sex reversal Aplasia/Hypoplasia of the lungs Abnormal lung lobation Transposition of the great arteries Syndactyly Nephroblastoma Horseshoe kidney Situs inversus totalis Abnormality of the genital system Congenital diaphragmatic hernia Ambiguous genitalia Atrophy/Degeneration involving the corticospinal tracts Infantile hypercalcemia Chest pain Hypotelorism Hypoplasia of dental enamel Deep philtrum Reduced number of teeth Hypercholesterolemia Aminoaciduria Narrow palate Relative macrocephaly Joint contracture of the hand Skin ulcer Clonus Abnormality of epiphysis morphology Stereotypy Dental crowding Subcutaneous nodule Rickets Abnormality of the metaphysis Melanocytic nevus Osteoarthritis Sparse scalp hair Fine hair Inflammation of the large intestine Aciduria Increased serum lactate Disproportionate tall stature Abnormal bleeding Recurrent fractures Delayed eruption of teeth Hypokalemia Self-injurious behavior Milia Joint swelling Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Hyperpigmentation of the skin Bradycardia Renal tubular acidosis Muscle stiffness Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Spina bifida Diabetes insipidus Flat occiput Short ribs Hyponatremia Metabolic acidosis Basal cell carcinoma Exotropia Multiple impacted teeth Ectopic calcification Thrombocytopenia Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Abnormality of the sense of smell Respiratory insufficiency Vertebral wedging Parietal bossing Ovarian carcinoma Anemia Severe hydrocephalus Hyporeflexia Short distal phalanx of the thumb Palmar pits Orbital cyst Calcification of falx cerebri Histiocytoma Curved fingers Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Areflexia Medulloblastoma Joint hypermobility Narrow nose Long face Long fingers Agenesis of permanent teeth Delayed puberty Vertebral fusion Congenital cataract Platyspondyly Colitis Abnormality of the sternum Thoracic scoliosis Camptodactyly of finger Sprengel anomaly Fragile nails Astrocytoma Skin tags Short 4th metacarpal Aggressive behavior Arthritis Neonatal hypotonia Neoplasm of the endocrine system Thin upper lip vermilion Broad face Ulcerative colitis Acidosis Reduced visual acuity Upslanted palpebral fissure Brain neoplasm Abnormal pupil morphology Abnormality of the renal tubule Polydactyly Osteoporosis Abnormality of the kidney Hypertrophic cardiomyopathy Joint laxity Pes planus Arthralgia Osteopenia Macrotia High forehead Autism Retrognathia Cerebral cortical atrophy Diabetes mellitus Clinodactyly of the 5th finger Autistic behavior Delayed skeletal maturation Carcinoma Telecanthus Obesity Absent speech Facial palsy Malar flattening Short nose Intellectual disability, mild Congestive heart failure Hypertonia Myopathy Sparse hair Hyperlordosis Paralysis Gait disturbance Postural instability Abnormality of the cardiovascular system Proptosis Microdontia Renal agenesis Otitis media Esotropia Dental malocclusion Cardiac rhabdomyoma Sudden cardiac death Macroglossia Broad nasal tip Hypodontia Sleep disturbance Wide mouth Thick vermilion border Dysmetria Smooth philtrum Nausea and vomiting Pulmonic stenosis Neurological speech impairment Small for gestational age Broad forehead Stroke Abnormal cardiac septum morphology Scarring Blepharophimosis Craniosynostosis Respiratory distress Tremor Cheilitis Elevated maternal serum alpha-fetoprotein Sepsis Nephropathy Hypotension Cerebral calcification Dilatation Fever Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Odontogenic neoplasm Urinary incontinence 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 Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Nevus Palmoplantar keratoderma Papule Enuresis nocturna Myopia Hyperreflexia Depressed nasal bridge Hypotrichosis Flexion contracture Muscular hypotonia Cleft upper lip Nocturnal lagophthalmos Abnormal facial expression Encopresis Urethral valve Urethral obstruction Mild proteinuria Polydipsia Facial grimacing Pyelonephritis Urinary retention Neurogenic bladder Wolff-Parkinson-White syndrome Iris coloboma Dysuria Keratoconjunctivitis sicca Acute kidney injury Hydroureter Postaxial polydactyly Keratitis Clubbing Abnormality of male internal genitalia



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