Spasticity, and Renal dysplasia

Diseases related with Spasticity and Renal dysplasia

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

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Other less relevant matches:

Low match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Top 5 symptoms//phenotypes associated to Spasticity and Renal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal cyst Muscular hypotonia Nystagmus Strabismus Polydactyly Pulmonary hypoplasia Motor delay Abnormality of the liver Cognitive impairment High forehead Cystic renal dysplasia Pain Multicystic kidney dysplasia Renal hypoplasia Cataract Tremor Renal cortical cysts Cryptorchidism Agenesis of corpus callosum Hearing impairment Stage 5 chronic kidney disease Visual impairment Rigidity Dandy-Walker malformation

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Abnormality of the genital system Hirsutism Tetraplegia Hyperactivity Flexion contracture Inguinal hernia Hypospadias Optic atrophy High palate Jaundice Microcephaly Short stature Feeding difficulties Polymicrogyria Coloboma Hypothyroidism Congenital cataract Elevated hepatic transaminase Respiratory distress Hypopigmentation of the skin Abnormality of the pinna Respiratory failure Aplasia/Hypoplasia of the macula Edema Hepatomegaly Hypertelorism Type I diabetes mellitus Hepatic fibrosis Oligohydramnios Polyhydramnios Joint hyperflexibility Hypertonia Muscle weakness Respiratory insufficiency Renal insufficiency Multiple glomerular cysts Elevated serum creatinine Acute kidney injury Glycosuria Gait ataxia Abnormal facial shape Hepatic steatosis Diabetes mellitus Anteverted nares Lissencephaly Postaxial polydactyly Abnormality of the kidney Hypogonadism Gait disturbance Dysarthria Growth delay Occipital encephalocele Opacification of the corneal stroma Lower limb hypertonia Heterotopia Encephalocele Micropenis Cerebellar hypoplasia Elevated serum creatine phosphokinase Blindness Hypoplasia of the corpus callosum Macular dystrophy Depressed nasal bridge Epicanthus Low-set ears Ptosis Smooth philtrum Cardiomegaly Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Left ventricular hypertrophy Pachygyria Tetraparesis Increased serum lactate Waddling gait Aciduria Cardiac arrest Hypertension Intrauterine growth retardation Gliosis Generalized muscle weakness Narrow palate Muscle cramps Clonus Scapular winging Increased proinsulin:insulin ratio Poor head control Back pain Amblyopia Polycystic kidney dysplasia Vascular tortuosity Slurred speech Easy fatigability Central adrenal insufficiency Aphakia Lumbar kyphosis Exercise intolerance Mutism Exotropia Ragged-red muscle fibers Hyperammonemia Hypoplasia of the antihelix Spastic tetraparesis Pancreatitis Optic nerve hypoplasia Postnatal growth retardation Metabolic acidosis Coma Behavioral abnormality Weight loss Peripheral demyelination Areflexia Arrhythmia Encephalopathy Depressivity Headache Congestive heart failure Acidosis Diarrhea Vomiting Ectopia lentis Myopathy Cardiomyopathy Dysphagia Progressive muscle weakness Anophthalmia Dyspnea Arthralgia Stridor Abnormality of the cerebral white matter Lactic acidosis Anosmia Bilateral ptosis Nausea Limb muscle weakness Nausea and vomiting Small for gestational age Polyneuropathy Lethargy Difficulty walking Dilated cardiomyopathy Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Telecanthus Myalgia Proximal muscle weakness Hypoglycemia Hemiplegia Ventricular fibrillation Attention deficit hyperactivity disorder Ethylmalonic aciduria Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hyposmia Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Reye syndrome-like episodes Abnormality of blood glucose concentration Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Peters anomaly Arthralgia of the hip Fatigue Ectopia pupillae Action tremor Gastrointestinal inflammation Limb hypertonia Intellectual disability, moderate Muscular hypotonia of the trunk Albinism Adrenal insufficiency Macrotia Arachnodactyly Hypopituitarism Aniridia Reduced visual acuity Neoplasm Hypoplasia of the iris Falls Hand tremor Hypoplasia of the fovea Glaucoma Visual loss Microphthalmia Kyphosis Decreased light- and dark-adapted electroretinogram amplitude Ocular pain Restrictive ventilatory defect Ketonuria Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Dental crowding Organic aciduria Chronic fatigue Excessive daytime somnolence Nephroblastoma Episodic vomiting Progressive proximal muscle weakness Ketosis Myoglobinuria Macular hypoplasia Drowsiness Fatigable weakness Rhabdomyolysis Difficulty climbing stairs Recurrent urinary tract infections Abnormality of the renal tubule Retinal detachment Hypoglycemic coma Narcolepsy Cataplexy Limb tremor Microcornea Impaired mastication Choanal atresia Nonketotic hypoglycemia Abnormal glucose tolerance Personality disorder Retinal vascular tortuosity Progressive spastic quadriplegia Central hypothyroidism Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Cardiorespiratory arrest Short nose Macrocephaly Neonatal hypotonia Intellectual disability, progressive Generalized hirsutism Low anterior hairline Spastic tetraplegia Tapered finger Synophrys Severe global developmental delay Protruding ear Coarse facial features Prominent supraorbital ridges Intellectual disability, severe Scoliosis Enlarged fossa interpeduncularis Neonatal breathing dysregulation Elongated superior cerebellar peduncle Episodic tachypnea Central apnea Retinal coloboma Renal hypoplasia/aplasia Overlapping toe Nephronophthisis Infertility Pyloric stenosis Chronic kidney disease Spastic paraparesis Paraparesis Horseshoe kidney Nephrolithiasis Renal agenesis Nephropathy Proteinuria Abnormality of the hip bone Arthritis Mandibular prognathia Abnormality of the dentition Hyperconvex nail Broad alveolar ridges Limb joint contracture Abnormal hair pattern Abnormally large globe Infantile spasms Delayed ability to walk Molar tooth sign on MRI Unilateral renal agenesis Anencephaly Bradykinesia Rod-cone dystrophy Babinski sign Obesity Peripheral neuropathy Optic nerve dysplasia Type II lissencephaly Retinal dysplasia Absent septum pellucidum Lower limb spasticity Cortical dysplasia Hypoplasia of the brainstem Congenital muscular dystrophy Severe muscular hypotonia Decreased testicular size Muscular dystrophy Hydronephrosis Hydrocephalus Frequent falls Spastic gait Abnormal electroretinogram Kyphoscoliosis Oculomotor apraxia Truncal ataxia Open mouth Cerebellar vermis hypoplasia Apraxia Pigmentary retinopathy Highly arched eyebrow Retinal dystrophy Wide nasal bridge Cone/cone-rod dystrophy Hyperesthesia Hydrometrocolpos Distal lower limb muscle weakness Distal lower limb amyotrophy Ankle clonus Lower limb hyperreflexia Urinary urgency Toe walking Impaired vibratory sensation Polydipsia Glucose intolerance Fever Anal atresia Abnormality of the face Omphalocele Depressed nasal ridge Postaxial hand polydactyly Limb undergrowth Specific learning disability Ascites Micromelia Craniosynostosis Hydrops fetalis Upslanted palpebral fissure Recurrent respiratory infections Abnormality of cardiovascular system morphology Short neck Myopia Brachydactyly Abnormal liver parenchyma morphology Pancreatic dysplasia Thickened skin Muscle stiffness Choroid plexus cyst Subcortical cerebral atrophy Failure to thrive Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Oxycephaly Hemivertebrae Rib fusion Polysplenia Broad neck Enlarged kidney Protuberant abdomen Generalized hyperpigmentation Cystic hygroma Premature graying of hair Redundant skin Abnormal biliary tract morphology Potter facies Hypoplasia of the uterus Pancreatic hypoplasia Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Ureteropelvic junction obstruction Abnormality of endocrine pancreas physiology Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Gout Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hyperuricemia Glomerulopathy Abnormality of exocrine pancreas physiology Atretic vas deferens Meningoencephalocele Postaxial foot polydactyly Hepatic cysts Pancreatic cysts Tapetoretinal degeneration Bile duct proliferation Congenital hepatic fibrosis Biliary cirrhosis Abnormality of the pancreas Right ventricular hypertrophy Portal hypertension Abnormality of alkaline phosphatase activity Situs inversus totalis Aortic valve stenosis Large fontanelles Cholestasis Intestinal malrotation Hepatosplenomegaly Patent ductus arteriosus Dilatation Atrial septal defect Abnormal renal corticomedullary differentiation



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