Peripheral neuropathy, and Hydronephrosis

Diseases related with Peripheral neuropathy and Hydronephrosis

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


Top matches:

Medium match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Low match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

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Other less relevant matches:

Low match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low 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

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Hydronephrosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Ptosis Constipation Vesicoureteral reflux Pain Motor delay Cryptorchidism Muscular hypotonia Epicanthus Microcephaly High palate Downslanted palpebral fissures Short stature Hypertelorism Wide nasal bridge Anteverted nares Dysphagia High, narrow palate Weight loss Diarrhea Delayed speech and language development Strabismus Recurrent skin infections Nausea and vomiting Macrotia Deeply set eye Long philtrum Behavioral abnormality Arachnoid cyst Anxiety Feeding difficulties Flexion contracture Cognitive impairment Spastic diplegia Failure to thrive Abnormal facial shape Low-set ears Vomiting Dolichocephaly Patent ductus arteriosus Thick eyebrow Sleep disturbance Intestinal malrotation Malar flattening Intestinal obstruction Joint hypermobility Sensorineural hearing impairment Dental crowding Kyphoscoliosis Micrognathia Scoliosis Pectus excavatum Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Growth delay Hypohidrosis Recurrent pyelonephritis Lymphedema Hair-pulling Cerebellar cortical atrophy Sacral dimple Accelerated skeletal maturation Bruxism Palpebral edema Dental malocclusion Impaired pain sensation Hypoplastic toenails Full cheeks Pointed chin Large hands Long eyelashes Hydroureter Dysarthria Fever Hoarse voice Endocarditis Overgrowth Concave nasal ridge Ventriculomegaly Atrial septal defect Protruding ear Midface retrusion Intellectual disability, mild Facial asymmetry Skeletal muscle atrophy Muscle weakness Cleft palate Hypertension Pollakisuria Fatigue Sleep apnea Cardiomyopathy Dilatation Respiratory failure Aggressive behavior Apnea Psychosis Pancreatitis Abdominal pain Diabetes insipidus Horseshoe kidney Recurrent urinary tract infections Arachnodactyly Broad forehead Nephrolithiasis Bulbous nose Renal dysplasia Hypermetropia Short nose Abnormal cerebellum morphology Microcornea Short philtrum Joint stiffness Autistic behavior Narrow mouth Narrow palate Microretrognathia Glaucoma Brachycephaly Hypogonadism Kyphosis Scarring Cerebellar atrophy Optic atrophy Visual impairment Spasticity Cataract Intestinal pseudo-obstruction Volvulus Aganglionic megacolon Abdominal distention Smooth philtrum Thrombocytopenia Headache Low-set, posteriorly rotated ears Cerebral visual impairment Hyperactivity Proptosis Clinodactyly of the 5th finger Posteriorly rotated ears Inguinal hernia Hernia Cerebellar vermis atrophy Agenesis of corpus callosum Short neck Obesity Immunodeficiency Ventricular septal defect Telecanthus Gastroesophageal reflux Gait disturbance Macrocephaly Upper limb spasticity Neonatal hypotonia Low anterior hairline Petechiae Pulmonary fibrosis Stridor Tethered cord Biconcave vertebral bodies Sclerosis of skull base Platybasia Paralysis Restrictive ventilatory defect Glomerulopathy Periorbital edema Tracheal stenosis Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Craniofacial hyperostosis Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Cerebral ischemia Angina pectoris Chronic obstructive pulmonary disease Myositis Elevated erythrocyte sedimentation rate Gangrene Pulmonary infiltrates Hemoptysis Abnormality of the rib cage Generalized osteosclerosis Wheezing Pericarditis Dural ectasia Low back pain Large sella turcica Glomerulonephritis Proteinuria Paresthesia Gastrointestinal hemorrhage Respiratory distress Chest pain Sensory neuropathy Renal insufficiency Autoimmunity Nephropathy Hematuria Papule Short nasal bridge Retinopathy Cough Visual loss Arrhythmia Stroke Recurrent respiratory infections Dyspnea Skin rash Respiratory insufficiency Otitis media Chronic otitis media Conjunctivitis Arthritis Pleural effusion Abnormality of the middle ear ossicles Arthralgia Hemiplegia Venous thrombosis Cranial nerve paralysis Purpura Vasculitis Epistaxis Basilar impression Meningitis Skin ulcer Sinusitis Diplopia Myalgia Subcutaneous nodule Myocardial infarction Elevated C-reactive protein level Atrophic scars Rhinorrhea Abnormality of the dentition Hepatic failure Unsteady gait Abnormality of the pinna Irritability Intellectual disability, moderate EEG abnormality Autism Hyporeflexia Absent speech Recurrent infections Abnormality of the duodenum Renal cyst Hyperalgesia Decreased palmar creases Talipes valgus Flat forehead Abnormal anterior chamber morphology Dermal translucency Pneumothorax Ecchymosis Generalized joint laxity Diastasis recti Thick vermilion border Hepatitis Hiatus hernia Cellulitis Tongue thrusting Hyperorality Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Heat intolerance Abnormality of the periventricular white matter Poor eye contact Weak cry 2-3 toe syndactyly Broad-based gait Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Abnormality of the outer ear Short chin Multicystic kidney dysplasia Tall stature Chronic diarrhea Abnormality of the genital system Low hanging columella Abnormality of the mouth Ocular pain Prostatitis Talipes Arthrogryposis multiplex congenita Blepharophimosis Joint laxity Thin upper lip vermilion Retrognathia Osteopenia Talipes equinovarus Myopia Depressed nasal bridge Recurrent intrapulmonary hemorrhage Retinal detachment Scleritis Increased inflammatory response Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Granulomatosis Pleuritis Subglottic stenosis Bruising susceptibility Tapered finger Distal arthrogryposis Congenital contracture Absent septum pellucidum Fragile skin Abnormality of the sternum Prolonged bleeding time Meningocele Delayed cranial suture closure Bilateral talipes equinovarus Abnormality of the coagulation cascade Cerebral hemorrhage Bilateral cryptorchidism Pterygium Mitral valve prolapse Hyperextensible skin Adducted thumb Cutis laxa Joint dislocation Exotropia Large fontanelles Thin skin Blue sclerae High myopia Coarctation of aorta Nephrotic syndrome Osteolytic defects of the phalanges of the hand Abnormality of cardiovascular system morphology Arnold-Chiari type I malformation Abnormality of the urinary system Stroke-like episode Neurogenic bladder Central apnea Megaloblastic anemia Dyschromatopsia Severe sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Polyphagia Blurred vision Anosmia Histiocytosis Leukoencephalopathy Type I diabetes mellitus Hypergonadotropic hypogonadism Pigmentary retinopathy Dehydration Abnormal bleeding Neurodegeneration Abnormality of the nervous system Rigidity Testicular atrophy Central diabetes insipidus Diabetes mellitus Clinodactyly Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Camptodactyly Difficulty walking Gait ataxia Pes cavus Babinski sign Frontal bossing Respiratory arrest Brachydactyly Hyperreflexia Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Central sleep apnea Gastric ulcer Abnormal glucose tolerance Sideroblastic anemia Hypothyroidism Myoclonus Dysmetria Microphthalmia Decreased testicular size Tetraplegia Hirsutism Polymicrogyria Delayed puberty Congenital cataract Muscular hypotonia of the trunk Micropenis Cerebral cortical atrophy Intellectual disability, severe Spastic tetraplegia Hypoplasia of the corpus callosum Intrauterine growth retardation Increased size of the mandible Congenital shortened small intestine Increased mean platelet volume Arthropathy Multiple lipomas Pyloric stenosis Feeding difficulties in infancy Hypoplasia of penis Cerebellar vermis hypoplasia Dementia Abnormal localization of kidney Depressivity Cerebral atrophy Blindness Tremor Nystagmus Ataxia Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Retinal coloboma Pachygyria Severe postnatal growth retardation Abnormality of visual evoked potentials Cortical dysplasia Decreased muscle mass Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Generalized hirsutism Abnormality of retinal pigmentation Postnatal microcephaly Lower limb muscle weakness Distal amyotrophy Syringomyelia Urinary retention Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Microcolon Abdominal situs inversus Hyperlordosis Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Anonychia Malnutrition Conductive hearing impairment Joint hyperflexibility Hypoalbuminemia Arnold-Chiari malformation Prominent metopic ridge Thickened calvaria Slender long bone Vertebral fusion Neurofibromas Back pain Nasal speech Atresia of the external auditory canal Coarse hair Bicuspid aortic valve Iris coloboma Osteolysis Wormian bones Increased bone mineral density Narrow face Abnormal vertebral morphology Abnormal form of the vertebral bodies Low posterior hairline Abnormality of the skin Urinary incontinence Portal hypertension External ophthalmoplegia Short foot Drooling Premature loss of teeth Ankle contracture Scleroderma Ankle clonus Hammertoe Impaired vibratory sensation Emotional lability Abnormality of the hand Slurred speech Spastic paraparesis Dysuria Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Specific learning disability Prominent nose Gliosis Upper limb muscle weakness Abnormality of the thumb Interphalangeal joint contracture of finger Hyperextensible hand joints Round face Narrow chest Ophthalmoplegia Prominent nasal bridge Abnormality of the liver Polyhydramnios Pneumonia Myopathy Hyperplasia of midface Morphea Spastic dysarthria Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Speech apraxia Fulminant hepatic failure



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