Cryptorchidism, and Proteinuria

Diseases related with Cryptorchidism and Proteinuria

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


Top matches:

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

Medium 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

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

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Other less relevant matches:

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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

Medium match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

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 OHDO SYNDROME


OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Medium match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cryptorchidism and Proteinuria

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Epicanthus Intellectual disability Abnormal facial shape Narrow mouth Short stature Hypertension Hypertelorism Ptosis Stage 5 chronic kidney disease Hypothyroidism Strabismus Micrognathia Cleft palate Intrauterine growth retardation Microphthalmia Scrotal hypoplasia Failure to thrive Hypoplasia of teeth Anteverted nares Sensorineural hearing impairment Abnormality of the dentition Micropenis Feeding difficulties Optic atrophy Blepharophimosis Intellectual disability, severe Renal insufficiency

Rare Symptoms - Less than 30% cases


Urethral obstruction Hypocalcemia High palate Cerebral atrophy Diffuse mesangial sclerosis Deeply set eye Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Nephrotic syndrome Sloping forehead Hypoplasia of the corpus callosum Ichthyosis Hypogonadism Edema Ataxia Severe short stature Dental malocclusion Delayed speech and language development Hematuria Cerebellar hypoplasia Cataract Microtia Depressed nasal bridge Fever Atrial septal defect Cortical gyral simplification Posteriorly rotated ears Joint laxity Postnatal growth retardation Bulbous nose Recurrent respiratory infections Hypsarrhythmia Narrow forehead Delayed myelination Widely spaced teeth Prominent occiput Constipation Nystagmus Spasticity Wide nasal bridge Growth delay Talipes Tremor Abnormality of cardiovascular system morphology Talipes equinovarus Oligohydramnios Renal hypoplasia Coarse facial features Renal dysplasia Ventricular septal defect Abnormality of the skeletal system Retrognathia Thin upper lip vermilion Cardiomyopathy Polyneuropathy Abnormality of skin pigmentation Visual impairment Downslanted palpebral fissures Dermal atrophy Ventriculomegaly Dry skin Carious teeth Ivory epiphyses of the phalanges of the hand Square pelvis bone Congenital cataract Cerebellar atrophy Abnormal peripheral myelination Hypermetropia Midface retrusion Atypical scarring of skin Pectus excavatum Progeroid facial appearance Camptodactyly Hypoplastic iliac wing Coloboma Decreased nerve conduction velocity Anhidrosis Hip dislocation Microcornea Limitation of joint mobility Opacification of the corneal stroma Torticollis Hypoplasia of the iris Severe failure to thrive Subcortical white matter calcifications Dilated cardiomyopathy Abnormality of the hair Microdontia Recurrent otitis media Amblyopia Macular degeneration Abnormality of visual evoked potentials Basal ganglia calcification Abnormal heart morphology Patchy demyelination of subcortical white matter Thickened calvaria Cutaneous photosensitivity Abnormality of the outer ear Heart murmur Pigmentary retinopathy Congenital hypothyroidism Intellectual disability, mild Arachnodactyly Epicanthus inversus Abnormal palmar dermatoglyphics Neonatal asphyxia Multiple bladder diverticula Patellar hypoplasia Kyphosis Convex nasal ridge Adducted thumb Interphalangeal joint contracture of finger Short palpebral fissure Normal pressure hydrocephalus Osteoporosis Sparse and thin eyebrow Arrhythmia Loss of facial adipose tissue Decreased lacrimation Delayed eruption of primary teeth Abnormal auditory evoked potentials Dry hair Hypoplastic pelvis Bilateral single transverse palmar creases Long nose Severe photosensitivity Atrioventricular canal defect Submucous cleft hard palate Stenosis of the external auditory canal Abnormality of the antihelix Bladder diverticulum Abnormal nasolacrimal system morphology Thyroid hypoplasia Ectopic thyroid Thyroid agenesis Neoplasm of the tongue Abnormality of the cheek Muscle weakness Flexion contracture Hepatomegaly Increased cellular sensitivity to UV light Specific learning disability Small for gestational age Hypertensive crisis Splenomegaly Coarctation of aorta Prominent nasal bridge Pachygyria Postnatal microcephaly Leukodystrophy Lissencephaly Hypoplastic left heart Sparse hair Corpus callosum atrophy Abnormality of the pinna Hand clenching Peripheral dysmyelination Muscular hypotonia Prominent nose Short nose Long philtrum Patent ductus arteriosus Clinodactyly of the 5th finger Reduced subcutaneous adipose tissue Feeding difficulties in infancy Abnormality of the foot Joint hyperflexibility Smooth philtrum Mandibular prognathia Thin vermilion border Slender nose Triangular face Bifid uvula Polyhydramnios Neonatal hypotonia Motor delay Renal agenesis Polycystic kidney dysplasia Abnormality of the genitourinary system Abnormal intestine morphology Multicystic kidney dysplasia Depressed nasal ridge Primary amenorrhea Pulmonary hypoplasia Tracheoesophageal fistula Falls Abnormality of the kidney Hypoplastic philtrum Hemolytic-uremic syndrome Overlapping toe Broad-based gait Unilateral renal agenesis Non-midline cleft lip Status epilepticus Urogenital fistula Malar flattening Myopia Fetal polyuria Bilateral renal dysplasia Sirenomelia Potter facies Nonketotic hypoglycemia Breech presentation Bilateral renal hypoplasia Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Vaginal atresia Bicornuate uterus Hemiparesis Intestinal malrotation Umbilical hernia Polydipsia Keratoconjunctivitis sicca Acute kidney injury Hydroureter Polyuria Keratitis Clubbing Recurrent urinary tract infections Enuresis Urinary incontinence Vesicoureteral reflux Sepsis Nephropathy Hydronephrosis Dilatation Dysuria Wolff-Parkinson-White syndrome Poor speech Encopresis Gastroesophageal reflux Diarrhea Macrocephaly Scoliosis Nocturnal lagophthalmos Abnormal facial expression Urethral valve Neurogenic bladder Enuresis nocturna Mild proteinuria Urethral stenosis Facial grimacing Pyelonephritis Urinary retention Hernia Telecanthus Tented philtrum Muscular hypotonia of the trunk Full cheeks Generalized myoclonic seizures Tapered finger Hirsutism Abnormality of the liver Respiratory tract infection Pain Intellectual disability, profound Elevated hepatic transaminase Jaundice Osteopenia Cerebral cortical atrophy Diabetes mellitus Agenesis of corpus callosum Generalized-onset seizure Cerebellar vermis hypoplasia Obesity Brisk reflexes Microalbuminuria Primitive reflex Thin bony cortex Prolonged neonatal jaundice Long palpebral fissure Pathologic fracture Overfolded helix Hypertrichosis Deep philtrum CNS hypomyelination Tented upper lip vermilion Narrow palate Cerebral visual impairment Gingival overgrowth Pneumonia Blindness Intellectual disability, moderate Abnormal dermatoglyphics Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Telangiectasia of the skin Congenital sensorineural hearing impairment Bifid scrotum Telangiectasia Immunodeficiency Thick lower lip vermilion Pancytopenia Hypoplasia of penis Wide intermamillary distance Everted lower lip vermilion Wide mouth Peripheral neuropathy Hypoglycemia Absent testis Recurrent bacterial infections Congenital nephrotic syndrome Steroid-resistant nephrotic syndrome Primary hypothyroidism Primary adrenal insufficiency Adrenal insufficiency Focal impaired awareness seizure Lymphopenia Abnormality of the nervous system Hypertriglyceridemia Epidermal acanthosis Focal-onset seizure Retinopathy Developmental regression Mental deterioration Cerebellar calcifications



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Fatigue, related diseases and genetic alterations Hepatomegaly and Pulmonary hypoplasia, related diseases and genetic alterations Hyperreflexia and Wide nose, related diseases and genetic alterations Cognitive impairment and Triangular face, related diseases and genetic alterations Peripheral neuropathy and Neutropenia, related diseases and genetic alterations Anemia and Hip dysplasia, related diseases and genetic alterations Brachydactyly and Urinary incontinence, related diseases and genetic alterations

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