Hepatomegaly, and Urinary incontinence

Diseases related with Hepatomegaly and Urinary incontinence

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

Top matches:

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Other less relevant matches:

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

High 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

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

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

Symptoms // Phenotype % cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Hearing impairment Gait disturbance Dementia Bowel incontinence Congestive heart failure Cardiomyopathy Cardiomegaly Gastroesophageal reflux Dysphagia Hepatosplenomegaly Motor delay Failure to thrive Global developmental delay Intellectual disability Hyperhidrosis Muscle weakness Pain Peripheral neuropathy Athetosis Parkinsonism Conductive hearing impairment Memory impairment Chorea Areflexia Hyperreflexia Intellectual disability, mild Delayed speech and language development Fatigue Myopathy Dilated cardiomyopathy Depressivity Encephalopathy Rigidity Mental deterioration Paralysis Growth delay Abnormality of movement Left ventricular hypertrophy Dilatation Feeding difficulties Recurrent respiratory infections Skeletal muscle atrophy Scoliosis Splenomegaly Respiratory insufficiency Arrhythmia Elevated serum creatine phosphokinase Sensorineural hearing impairment Dyspnea Neurodegeneration Macroglossia Elevated hepatic transaminase Emotional lability

Rare Symptoms - Less than 30% cases

Blindness Orofacial dyskinesia Macrocephaly Cataract Optic atrophy Babinski sign Spasticity Progressive cerebellar ataxia Coarse facial features Nystagmus Respiratory tract infection Chronic diarrhea Hypertonia Macular degeneration Cerebral atrophy Otitis media Myalgia Respiratory failure Atherosclerosis Emphysema Short finger Increased muscle fatiguability Behavioral abnormality Kyphosis Myoclonus Thickened skin Abnormality of the cardiovascular system Impaired temperature sensation Visual loss Hirsutism Postnatal growth retardation Bipolar affective disorder Generalized hypotonia Short neck Spastic tetraparesis Progressive visual loss Obsessive-compulsive behavior Type II diabetes mellitus Abnormality of the cerebral white matter Hypoglycemia Acidosis Confusion Involuntary movements Limb muscle weakness Gait ataxia Dyskinesia Microcephaly Slurred speech Hypertension Fever Choreoathetosis Progressive neurologic deterioration Psychosis Abnormality of extrapyramidal motor function Abnormality of the liver Muscular hypotonia Neuronal loss in central nervous system Hypohidrosis Headache Hypertrophic cardiomyopathy Tremor Progressive muscle weakness Hyporeflexia Hepatic failure Ketoacidosis Gingivitis Pendular nystagmus Tubulointerstitial nephritis Hypoplastic acetabulae Posterior subcapsular cataract Broad foot Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Anterior beaking of lumbar vertebrae Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Attenuation of retinal blood vessels Acanthocytosis Right ventricular hypertrophy Visceromegaly Generalized dystonia Abnormal renal physiology Diffuse cerebral atrophy Flared iliac wings Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Foam cells Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Elevated serum creatinine Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Facial grimacing Angiokeratoma Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Stuttering Tubular atrophy Recurrent bronchitis Acute hepatic failure Pericarditis Glycosuria Subcapsular cataract Nephrocalcinosis Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Absence seizures Hypogonadotrophic hypogonadism Precocious puberty Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Elevated alkaline phosphatase Hyperinsulinemia Increased number of teeth Hydroureter Hyperuricemia Bronchitis Loss of speech Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Pulmonary fibrosis Lipodystrophy Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Chronic otitis media Nephritis Polydipsia Portal hypertension Abnormal left ventricle morphology Acute pancreatitis Testicular atrophy Abnormal facial expression Anxiety Abnormal corpus striatum morphology Anemia Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Recurrent singultus Blood group antigen abnormality Hyporeflexia of upper limbs Paresthesia Abnormality of the astrocytes Pes cavus Platyspondyly Precocious puberty in females Intention tremor Abnormal retinal artery morphology Widely-spaced incisors Tetraparesis Recurrent cystitis Glue ear Unilateral breast hypoplasia Abnormality of the face Lower limb muscle weakness Hemolytic anemia Thickened ears Personality changes Tics Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Insomnia Restlessness Impaired pain sensation Excessive salivation Impaired vibration sensation in the lower limbs Rhabdomyolysis Sensory axonal neuropathy Ventricular fibrillation Ventricular arrhythmia Sensory neuropathy Sleep apnea Cardiac arrest Sensorimotor neuropathy Hallucinations Atrial fibrillation Hyporeflexia of lower limbs Personality disorder Generalized limb muscle atrophy Abnormal social behavior Generalized-onset seizure Abnormal lactate dehydrogenase activity Caudate atrophy Dilatation of the bladder Granular macular appearance Tubulointerstitial fibrosis Vertical nystagmus Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Bull's eye maculopathy Epigastric pain Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Supraventricular tachycardia Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Abnormality of dental color Abnormal chorioretinal morphology Receptive language delay Chronic hepatic failure Hyperostosis frontalis interna Chronic active hepatitis Abnormality of retinal pigmentation Nonproductive cough Exudative retinopathy Increased circulating androgen level Opacification of the corneal stroma High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Hepatic necrosis Urethral stricture Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Generalized amyotrophy Progressive spasticity Female hypogonadism Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Abnormal adipose tissue morphology Hypogonadism Anorexia Paraplegia Spastic paraparesis Paraparesis Limb ataxia Spastic tetraplegia Febrile seizures Aciduria Tetraplegia Coma Neutropenia Metabolic acidosis Unsteady gait Spastic paraplegia Short attention span Severe global developmental delay Hyperactivity Recurrent infections Impaired thermal sensitivity Abnormality of glycosphingolipid metabolism Cherry red spot of the macula Progressive psychomotor deterioration Upper motor neuron dysfunction Motor deterioration Supranuclear gaze palsy Megalencephaly Episodic abdominal pain Leukoencephalopathy Skeletal myopathy Impotence Abnormality of the skin Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Papilledema Protuberant abdomen Rhinitis Abnormal heart valve morphology Multiple joint contractures Prominent supraorbital ridges Widely spaced teeth Hoarse voice Osteoarthritis Prominent nose Abnormality of the basal ganglia Full cheeks Pectus carinatum Umbilical hernia Mandibular prognathia Inguinal hernia Frontal bossing Wide nasal bridge Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Orthostatic hypotension Hemiplegia Mucopolysacchariduria Increased muscle glycogen content Abnormal cerebellum morphology Postural instability Vertigo Dysmetria Neurological speech impairment Corneal opacity Abnormal pyramidal sign Thrombocytopenia Ventriculomegaly Intrauterine growth retardation Abnormality of lysosomal metabolism Diaphragmatic weakness Cerebral calcification Abnormality of refraction Painless fractures due to injury Acetabular dysplasia Pain insensitivity Recurrent corneal erosions Hyposmia Decreased number of peripheral myelinated nerve fibers Anhidrosis Steppage gait Anosmia Abnormal autonomic nervous system physiology Recurrent fractures Gliosis Bradykinesia Fasciculations Focal dystonia Cerebral cortical atrophy Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Mood swings Alcoholism Pseudohypoparathyroidism Calcinosis Broad-based gait Abnormal lower motor neuron morphology Lewy bodies Frontotemporal dementia Progressive encephalopathy Basal ganglia calcification Abnormality of neuronal migration Mask-like facies Oral-pharyngeal dysphagia Dysdiadochokinesis Schizophrenia Muscle stiffness Clumsiness Wrist flexion contracture Flared nostrils Recurrent urinary tract infections Autistic behavior Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Cough Nyctalopia Retinopathy Scarring Sparse hair Pallor Infertility Irritability Abnormality of the kidney Proteinuria Deeply set eye Photophobia Jaundice Pes planus Kyphoscoliosis Hypothyroidism Autism Weight loss Hyperkeratosis Delayed puberty Dry skin Abdominal pain Round face Recurrent otitis media Hypertriglyceridemia Pulmonary arterial hypertension Epidermal acanthosis Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Decreased testicular size Growth hormone deficiency Gastrointestinal hemorrhage Vesicoureteral reflux Retinal degeneration Asthma Abdominal distention Ascites Sleep disturbance Nephropathy Hepatic steatosis Retinal dystrophy Tachycardia Cirrhosis Nausea Stage 5 chronic kidney disease Lymphadenopathy Polydactyly Diabetes mellitus Expressive language delay Ptosis EMG abnormality Aspiration Ventricular hypertrophy Peripheral demyelination Generalized muscle weakness Muscular dystrophy Stroke Proximal muscle weakness EEG abnormality Difficulty walking Osteopenia Abnormality of metabolism/homeostasis Ridged cranial sutures Respiratory insufficiency due to muscle weakness Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Incisional hernia Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Scapular winging Delayed gross motor development Rod-cone dystrophy Firm muscles Pneumonia Alopecia Constipation Patent ductus arteriosus Clinodactyly Obesity Renal insufficiency Abnormality of the dentition Vomiting Respiratory distress Visual impairment Strabismus Abnormal CNS myelination Atrioventricular block Shortened PR interval Abdominal wall muscle weakness Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Nasal speech Decreased beta-galactosidase activity


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