Autoimmunity, and Urinary incontinence

Diseases related with Autoimmunity and Urinary incontinence

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


Top matches:

Medium match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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Other less relevant matches:

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match UROFACIAL SYNDROME 2; UFS2


Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).For a discussion of genetic heterogeneity of UFS, see UFS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Constipation
  • Hydronephrosis
  • Vesicoureteral reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about UROFACIAL SYNDROME 2; UFS2

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 AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Urinary incontinence

Symptoms // Phenotype % cases
Constipation Common - Between 50% and 80% cases
Vesicoureteral reflux Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressivity Seizures Hearing impairment Pain Recurrent urinary tract infections Behavioral abnormality Cataract Osteopenia Immunodeficiency Hypertension Optic atrophy Short neck Vomiting Abnormality of the dentition Renal insufficiency Splenomegaly Polydipsia Obesity Bowel incontinence Recurrent respiratory infections Diabetes mellitus Weight loss Hypothyroidism Hypertelorism Hepatosplenomegaly Strabismus Chronic otitis media Confusion Muscle weakness Scoliosis Neoplasm Short stature Nystagmus Visual loss Hyperreflexia

Rare Symptoms - Less than 30% cases


Enuresis Failure to thrive Nausea Ataxia Muscular hypotonia Tachycardia Dry skin Spasticity Retinal degeneration Urinary retention Epicanthus Delayed puberty Carious teeth Urinary urgency Hypermetropia Talipes equinovarus Hydrocephalus Bronchitis Respiratory tract infection Irritability Patellar dislocation Polyuria Visual impairment Pulmonary arterial hypertension Renovascular hypertension Urethral obstruction Thyroiditis Hashimoto thyroiditis Goiter Cryptorchidism Cholelithiasis Functional abnormality of the bladder Long philtrum Tremor Thrombocytopenia Acne Asthma Type II diabetes mellitus Optic disc pallor Hepatitis Paralysis Diabetes insipidus Specific learning disability Hyperthyroidism Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Myalgia Intellectual disability, mild Hydronephrosis Conductive hearing impairment Hyperkinesis Hyporeflexia Patent ductus arteriosus Purpura Umbilical hernia Malar flattening Arthritis Kyphosis Muscle stiffness Anxiety Chronic obstructive pulmonary disease Hyperhidrosis Congestive heart failure Peripheral demyelination Respiratory insufficiency Fatigue Hepatomegaly Motor delay Delayed speech and language development Gliosis Cognitive impairment Sensorineural hearing impairment Pneumonia Dilatation Recurrent infections Autoimmune thrombocytopenia Autism Severe sensorineural hearing impairment Gastroesophageal reflux Scarring Delayed skeletal maturation Respiratory failure Kyphoscoliosis Inguinal hernia Aganglionic megacolon Intrauterine growth retardation Wide nasal bridge Hand polydactyly Downslanted palpebral fissures Polycystic kidney dysplasia Ventricular septal defect Atrial septal defect Low-set ears Tetralogy of Fallot Ptosis Abnormality of the thorax Cleft palate Long face Intestinal malrotation Abnormal facial shape Bulbous nose Micrognathia Microcephaly Arachnodactyly Laryngomalacia Microphthalmia Upslanted palpebral fissure Spina bifida Hypocalcemia Feeding difficulties in infancy Telecanthus Polyhydramnios Abnormality of dental enamel Narrow mouth Glaucoma Attention deficit hyperactivity disorder Short philtrum Abnormality of cardiovascular system morphology Renal hypoplasia Prominent nasal bridge Joint hyperflexibility Flattened moderately deformed vertebrae Hypopigmented skin patches Hypospadias Schizophrenia Choanal atresia Anal atresia Nasal speech Spinocerebellar tract disease in lower limbs Spondylolisthesis Synovial hypertrophy Spastic gait Abnormality of the sternum Femoral bowing Neurodevelopmental delay Open bite Bowing of the legs Flat occiput Heart murmur Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Hallucinations Limb dystonia Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Hip dysplasia Decreased antibody level in blood Dental malocclusion Delayed myelination Thickened calvaria Aseptic necrosis Progressive joint destruction Retinal thinning Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Long ear Delusions Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Overfolded helix Retinal arteriolar tortuosity Dysphasia Wide nose Abnormal facial expression Nephroblastoma Germinoma Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Orthostatic hypotension Dehydration Hypotension Syncope Coma Vertigo Diarrhea Transient hypophosphatemia Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Decreased urinary potassium Thyrotoxicosis with toxic single thyroid nodule Lethargy Thyrotoxicosis with toxic multinodular goitre Fever Short nose Medial calcification of large arteries Abnormality of metabolism/homeostasis Osteoporosis Anemia Carcinoma Exercise-induced muscle fatigue Generalized osteoporosis Chronic mucocutaneous candidiasis Susceptibility to herpesvirus Recurrent Aspergillus infections Villous atrophy Carotid artery dilatation Autoimmune neutropenia Immune dysregulation Dilatation of the cerebral artery Enterocolitis Renal artery stenosis Antiphospholipid antibody positivity Decrease in T cell count B lymphocytopenia Primary hypothyroidism Abnormality of the endocrine system Pulmonary embolism Hemolytic anemia Abnormal intestine morphology Sepsis Eczema Inflammatory abnormality of the skin Bronchiectasis Lymphopenia Type I diabetes mellitus Leukoencephalopathy Autoimmune hemolytic anemia Esophageal carcinoma Recurrent upper respiratory tract infections Encephalitis Patent foramen ovale Oropharyngeal squamous cell carcinoma Inflammation of the large intestine Late-onset proximal muscle weakness Periodic hypokalemic paresis Foot polydactyly Seborrheic dermatitis Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Hypoplasia of the thymus Paraplegia Abnormality of the skull Posterior embryotoxon Abnormal lung lobation Bipolar affective disorder Turricephaly Hypoparathyroidism Multiple renal cysts Meningocele Tetany Truncus arteriosus Abnormal eyelid morphology Varicose veins Atelectasis Abnormality of the uterus Corneal neovascularization Occipital myelomeningocele Sensory impairment Increased intramyocellular lipid droplets Heat intolerance Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Rhabdomyolysis Hypomagnesemia Graves disease Ophthalmoparesis Abnormality of peripheral nerve conduction Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Myotonia Hypokalemia Neuronal loss in central nervous system CSF pleocytosis Autoimmune antibody positivity Ocular pain Macroglossia Neuritis Abnormality of brain morphology Optic neuritis Recurrent singultus EMG abnormality Myelitis Proptosis Lower limb muscle weakness Muscle cramps Tetraplegia Palpitations Progressive cerebellar ataxia Abnormality of prothrombin Neurodegeneration Increased body weight Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Horizontal nystagmus Abnormality of the hand Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Polycystic ovaries Elevated alkaline phosphatase Recurrent otitis media Abnormal retinal morphology Hypoventilation Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Truncal obesity Precocious puberty Hydroureter Pulmonary fibrosis Emphysema Glucose intolerance Hyperglycemia Hyperostosis Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Nephritis Portal hypertension Lipodystrophy Hyperinsulinemia Involuntary movements Hypertriglyceridemia Retinal atrophy Dystonia Deeply set eye Photophobia Jaundice Pes planus Dyspnea Hyperkeratosis Polydactyly Abdominal pain Hypogonadism Myoclonus Rod-cone dystrophy Alopecia Clinodactyly Encephalopathy Blindness Proteinuria Cardiomyopathy Respiratory distress Peripheral neuropathy Feeding difficulties Urinary hesitancy CNS demyelination Brain neoplasm Emotional lability Incoordination Diplopia Memory impairment Paresthesia Difficulty walking Headache Elevated hepatic transaminase Abnormality of the kidney Epidermal acanthosis Cirrhosis Cardiomegaly Pigmentary retinopathy Cyanosis Progressive visual loss Decreased testicular size Round face Abdominal distention Ascites Sleep disturbance Nephropathy Hepatic steatosis Retinal dystrophy Hirsutism Hepatic failure Stage 5 chronic kidney disease Postnatal growth retardation Lymphadenopathy Infertility Pulmonic stenosis Ophthalmoplegia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Sparse hair Abnormality of the liver Autistic behavior Pallor Insulin-resistant diabetes mellitus Peripheral visual field loss Highly arched eyebrow Granular macular appearance Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Receptive language delay Depressed nasal bridge Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Generalized hypotonia Dysarthria Squared iliac bones Gait ataxia Thick eyebrow Dysmetria Genu valgum Abnormality of the foot Abnormality of the cerebral white matter Neurological speech impairment Corneal opacity Broad forehead Pectus carinatum Mental deterioration Coarse facial features Skeletal dysplasia Macrotia Mandibular prognathia Prominent forehead Myopia Babinski sign Areflexia Hernia Midface retrusion Cerebral atrophy Cerebellar atrophy Myopathy Intellectual disability, severe Ventriculomegaly Abnormality of the skeletal system Frontal bossing Gait disturbance Macrocephaly Skeletal muscle atrophy Abnormality of the pituitary gland Albuminuria Alopecia of scalp Myocarditis Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Tubular atrophy Abnormal left ventricle morphology Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Abnormal renal physiology Testicular atrophy Abnormal muscle tone Hematemesis Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Frontal balding Tubulointerstitial fibrosis Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Arteriosclerosis Elevated C-reactive protein level Abnormal serum interferon-gamma level



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