Cryptorchidism, and Nephrotic syndrome

Diseases related with Cryptorchidism and Nephrotic syndrome

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


Top matches:

Medium 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

Medium match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Medium 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

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Other less relevant matches:

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Medium 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

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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

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 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 Nephrotic syndrome

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Stage 5 chronic kidney disease Hypertelorism Abnormal facial shape Downslanted palpebral fissures Coarctation of aorta Generalized hypotonia Seizures Glomerulosclerosis Hypertension Microcephaly Hydronephrosis Neoplasm Renal insufficiency Bilateral cryptorchidism Micropenis

Rare Symptoms - Less than 30% cases


Dilatation Recurrent urinary tract infections Intellectual disability, mild Exotropia Abnormal anterior chamber morphology Congenital nephrotic syndrome Diffuse mesangial sclerosis Focal segmental glomerulosclerosis Hypocalcemia Hypoalbuminemia Broad forehead Hypertriglyceridemia Focal-onset seizure Ichthyosis Retinopathy Proteinuria Edema Anal atresia Vesicoureteral reflux Microcornea Short philtrum Brachycephaly Narrow mouth Abnormality of cardiovascular system morphology Inguinal hernia Hernia Atrial septal defect Abnormality of the skeletal system Myopia Depressed nasal bridge Protruding ear Arachnodactyly Deeply set eye Pectus excavatum Cerebellar hypoplasia Ventriculomegaly Intrauterine growth retardation High palate Scarring Failure to thrive Growth delay Abnormality of the coagulation cascade Lissencephaly Intestinal malrotation Joint hypermobility Stroke Micrognathia Constipation Short neck Male infertility Hypoplasia of penis Pigmentary retinopathy Delayed puberty Nystagmus Hypogonadism Delayed skeletal maturation Adrenal insufficiency Multicystic kidney dysplasia Ataxia Hepatosplenomegaly Jaundice Coarse facial features Acidosis Macrotia Conductive hearing impairment Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Areflexia Visual loss Elevated hepatic transaminase Craniosynostosis Carcinoma Short distal phalanx of finger Gastrointestinal hemorrhage Prominent nose Round face Hypospadias Triangular face Hypodontia Hypopigmentation of the skin Flat face Abnormality of the kidney Hepatic failure Cirrhosis Abnormality of skin pigmentation Malabsorption Pulmonic stenosis Pruritus Abnormality of the liver Osteoporosis Clinodactyly Hepatomegaly Congestive heart failure Delayed cranial suture closure Distal arthrogryposis Absent septum pellucidum Fragile skin Abnormality of the sternum Prolonged bleeding time Atrophic scars Bilateral talipes equinovarus Hiatus hernia Cerebral hemorrhage Ambiguous genitalia Congenital contracture Pterygium Hyperextensible skin Recurrent skin infections Abnormality of the mouth Low hanging columella Ventricular septal defect Talipes valgus Frontal bossing Tetralogy of Fallot Cataract Abnormality of the duodenum Hyperalgesia Decreased palmar creases Flat forehead Diastasis recti Endocarditis Decreased testicular size Dermal translucency Pneumothorax Ecchymosis Generalized joint laxity Specific learning disability Abnormal form of the vertebral bodies Abnormality of the ribs Multiple small medullary renal cysts Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Renal artery stenosis Hematuria Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Butterfly vertebrae Arterial stenosis Infertility Male pseudohermaphroditism Fat malabsorption Short thumb Cystic renal dysplasia Chromosome breakage Absent thumb External genital hypoplasia Hypoplasia of the radius Bone marrow hypocellularity Renal cyst Abnormality of circulating hormone level Abnormal heart morphology Anemia Urethral obstruction Bowel incontinence Polydipsia Urinary incontinence Abnormality of male internal genitalia Hypopigmentation of the fundus Peripheral pulmonary artery stenosis Renal hypoplasia Spina bifida occulta Hypoplasia of the ulna Heart murmur Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Finger clinodactyly Vertebral segmentation defect Hemivertebrae Pointed chin Abnormal vertebral morphology Lymphedema Renal dysplasia Cutis laxa Cholestasis Malnutrition Chorioretinal atrophy Abnormal pupil morphology Dilatation of the cerebral artery Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Hepatocellular carcinoma Long nose Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Adducted thumb Low anterior hairline Microretrognathia Abnormal internal genitalia Abnormality of neuronal migration Abnormal sex determination Aortic aneurysm Patent foramen ovale Bicuspid aortic valve Aortic regurgitation Heterotopia Cortical dysplasia Mitral regurgitation Myocardial infarction Generalized-onset seizure Ovarian gonadoblastoma Testicular gonadoblastoma Confusion Emphysema Shawl scrotum Skeletal dysplasia Streak ovary Anteverted nares Primary gonadal insufficiency Decreased testosterone in males Epicanthus Visual impairment Delayed speech and language development Low-set ears Enlarged cisterna magna Spasticity Hypoplasia of the vagina Female external genitalia in individual with 46,XY karyotype Abnormality of the scrotum Subependymal nodules Dyslexia Widow's peak Vanishing testis Agenesis of corpus callosum Cerebellar atrophy Mental deterioration Postaxial hand polydactyly Epidermal acanthosis Hepatic fibrosis Generalized hirsutism Abnormal electroretinogram Developmental regression Abnormality of the nervous system Recurrent bacterial infections Hypoplasia of the ovary Hypoglycemia Hypothyroidism Immunodeficiency Medial flaring of the eyebrow Peripheral neuropathy Ptosis Lymphopenia Finger syndactyly Abnormality of the labia Wide nasal bridge Patent ductus arteriosus Encephalopathy Recurrent infections Syndactyly Skeletal muscle atrophy Intellectual disability, severe Obesity Neurological speech impairment Absent testis Steroid-resistant nephrotic syndrome Low-set, posteriorly rotated ears Primary hypothyroidism Primary adrenal insufficiency Prominent nasal bridge Focal impaired awareness seizure Hypoplasia of the corpus callosum Microphthalmia Joint dislocation Joint laxity Hypergonadotropic hypogonadism Azoospermia Blepharophimosis Nephroblastoma Clitoral hypertrophy Telecanthus Thin upper lip vermilion Facial asymmetry Umbilical hernia Retrognathia Osteopenia Kyphoscoliosis Respiratory failure Glaucoma Arthrogryposis multiplex congenita Talipes Gonadal dysgenesis Thin skin Narrow palate Horseshoe kidney Sensorineural hearing impairment Nephrolithiasis Large fontanelles Primary amenorrhea Blue sclerae Thick eyebrow High myopia Mitral valve prolapse Gynecomastia Tapered finger Retinal detachment High, narrow palate Bruising susceptibility Posteriorly rotated ears Increased circulating gonadotropin level Cerebral atrophy Convex nasal ridge Postnatal microcephaly Pachygyria Decreased serum estradiol Oligohydramnios Sloping forehead Narrow forehead Abnormal vagina morphology Hypoplastic left heart Hip dislocation Coloboma Camptodactyly Elevated circulating luteinizing hormone level Urogenital sinus anomaly Decreased fertility in females Midface retrusion Leukodystrophy Cortical gyral simplification Sparse axillary hair Absence of secondary sex characteristics Long philtrum Short nose Sparse pubic hair Talipes equinovarus Elevated circulating follicle stimulating hormone level Gonadoblastoma Motor delay Corpus callosum atrophy Flexion contracture Cleft palate Muscular hypotonia Muscle weakness Scoliosis Hypertensive crisis Hand clenching Rectal atresia



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