Seizures, and Abdominal distention

Diseases related with Seizures and Abdominal distention

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


Top matches:

Low match EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).

EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Is also known as pyridoxine-dependent epilepsy;pde, pyridoxine dependency with seizures, aasa dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM

More info about EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Low match GLYCOGEN STORAGE DISEASE IXc; GSD9C

Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel et al., 1998).

GLYCOGEN STORAGE DISEASE IXc; GSD9C Is also known as gsd ixc;gsd due to liver phosphorylase kinase deficiency; gsd type 9a; gsd type 9c; gsd type ixa; gsd type ixc; glycogen storage disease type 9a; glycogen storage disease type 9c; glycogen storage disease type ixa; glycogen storage disease type ixc; glycogenosis due to liver phosphorylase kinase deficiency; glycogenosis type 9a; glycogenosis type 9c; glycogenosis type ixa; glycogenosis type ixc; xlg

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS ORPHANET OMIM

More info about GLYCOGEN STORAGE DISEASE IXc; GSD9C

Low match EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

Early-onset vitamin B6-dependent epilepsy is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (summary by Darin et al., 2016).

EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D Is also known as ;becrs; bects; bre; benign epilepsy of childhood with centrotemporal spikes; benign familial epilepsy of childhood with rolandic spikes; benign rolandic epilepsy; centrotemporal epilepsy

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

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Other less relevant matches:

Low 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 ipox, congenital idiopathic intestinal pseudoobstruction;ciip, ciip, x-linked;ciipx, intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement

Related symptoms:

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


SOURCES: UMLS MONDO OMIM MESH GARD

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

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related, mngie, polg-related

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO DOID

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form; mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Low match GAUCHER DISEASE, TYPE II

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gd ii, gaucher disease, acute neuronopathic type;acute neuronopathic gaucher disease; infantile cerebral gaucher disease

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Failure to thrive


SOURCES: UMLS GARD OMIM MONDO SCTID ORPHANET DOID

More info about GAUCHER DISEASE, TYPE II

Low match METACHROMATIC LEUKODYSTROPHY, ADULT FORM

METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form; mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

Low match VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A

Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR ) (Koren, 2006; Liberman and Marx, 2001).In the liver, vitamin D 25-hydroxylase (CYP2R1 ) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1 ) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation (Takeyama et al., 1997).Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (Liberman and Marx, 2001). Genetic Heterogeneity of Vitamin D-Dependent RicketsVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B (OMIM ) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1 ), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A ) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR ). VDDR2B {600785} is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. Other Forms of Hypophosphatemic RicketsFor a discussion of other forms of hypophosphatemic rickets, see ADHR (OMIM ).

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A Is also known as vitamin d-dependent rickets, type 1a, 1-alpha, 25-hydroxyvitamin d3 deficiency, selective, 25-hydroxycholecalciferol-1-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, vitamin d dependency, type 1;vdd1, pseudovitamin d-deficiency rickets, type ia;pddr1a, pddr ia;1-alpha-hydroxylase deficiency; pddri; pseudovitamin d-deficient rickets; vddi; vddr-i; vitamin d dependent rickets type i; vitamin d-dependency type i

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM UMLS SCTID ORPHANET

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A

Low match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

Top 5 symptoms//phenotypes associated to Seizures and Abdominal distention

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Abdominal distention. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Dystonia Abnormal facial shape Developmental regression Intellectual disability Splenomegaly Hepatomegaly Growth delay Infantile onset Protuberant abdomen Respiratory distress Vomiting Acidosis Muscular hypotonia

Rare Symptoms - Less than 30% cases


Bilateral sensorineural hearing impairment Urinary incontinence Difficulty walking Reduced visual acuity Babinski sign Memory impairment Hyporeflexia Punctate periventricular T2 hyperintense foci Optic atrophy Frequent falls Dysarthria Frontal bossing Ophthalmoplegia Abdominal pain Respiratory failure Encephalopathy Intestinal pseudo-obstruction Smooth philtrum Thrombocytopenia Intention tremor Leukodystrophy Clumsiness Progressive gait ataxia Abnormal social behavior Progressive psychomotor deterioration EMG: chronic denervation signs Decerebrate rigidity Progressive peripheral neuropathy Cholecystitis Vegetative state Abnormality of proteoglycan metabolism Short attention span Bulbar signs Hypertelorism Loss of speech Delusions Abnormality of visual evoked potentials Increased CSF protein Emotional lability Decreased nerve conduction velocity Abnormality of glycosphingolipid metabolism Low-set ears Hallucinations Ventriculomegaly Prenatal movement abnormality Short stature Motor delay Elevated hepatic transaminase Hypoglycemia Generalized myoclonic seizures Apnea Decreased liver function Fetal distress Abnormality of metabolism/homeostasis Anemia Myoclonus Difficulty standing Rickets Femoral bowing Enlargement of the wrists Hypocalcemic seizures Generalized aminoaciduria Hypophosphatemia Hyperparathyroidism Bowing of the legs Delayed epiphyseal ossification Widely patent fontanelles and sutures Elevated circulating parathyroid hormone level Thin bony cortex Fibular bowing Enterocolitis Abdominal wall muscle weakness Irritability Chorea Milia Schizophrenia Bowel incontinence Orthostatic hypotension due to autonomic dysfunction Progressive spastic quadriplegia Neoplasm of the gallbladder Pica Delayed eruption of teeth Metaphyseal irregularity Aciduria Recurrent fractures Hypoplasia of dental enamel Inability to walk Bone pain Aminoaciduria Hypocalcemia Elevated alkaline phosphatase Flat occiput Tibial bowing Enlargement of the costochondral junction Dementia Thoracic hypoplasia Joint hypermobility High, narrow palate Macroglossia Low posterior hairline Generalized hirsutism Hoarse voice Cholelithiasis Sleep apnea 2-3 toe syndactyly Hypoplastic nipples Attention deficit hyperactivity disorder Episodic abdominal pain Hyperkinesis Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Prolonged prothrombin time Abnormality of the mitochondrion Long hallux Spinal deformities Synophrys Hepatosplenomegaly Enlargement of the ankles Epicanthus Sparse bone trabeculae Bulging epiphyses Secondary hyperparathyroidism Bulging of the costochondral junction Deformed rib cage Subperiosteal bone resorption Autosomal dominant inheritance Scoliosis Cognitive impairment High palate Thin upper lip vermilion Pain Wide nasal bridge Macrocephaly Intellectual disability, mild Long philtrum Inguinal hernia Oxycephaly Prominent forehead Coarse facial features Hyperactivity Delayed speech and language development Cardiac arrest Depressivity Abnormality of the cerebral white matter Myopathy Peripheral neuropathy Talipes equinovarus Metabolic acidosis Constipation Progressive Pruritus Clonus Malabsorption Hearing impairment Unsteady gait Generalized muscle weakness Hepatic fibrosis Leukoencephalopathy Cachexia Hypokalemia Bilateral talipes equinovarus Malnutrition Ataxia Increased size of the mandible Progressive external ophthalmoplegia Intestinal malrotation Colitis Downslanted palpebral fissures Postnatal microcephaly Patent ductus arteriosus X-linked recessive inheritance Feeding difficulties in infancy Hydronephrosis Brain atrophy Pyloric stenosis Congenital shortened small intestine Lipoma Spastic diplegia Multiple lipomas Arthropathy Intestinal obstruction Volvulus Poor speech Increased mean platelet volume Mitochondrial myopathy Celiac disease Recurrent aspiration pneumonia Recurrent respiratory infections Generalized seizures Generalized tonic-clonic seizures Strabismus Flexion contracture Feeding difficulties Hyperreflexia Dysphagia Cerebral atrophy Rigidity Neonatal respiratory distress Cough Esotropia Progressive neurologic deterioration Aspiration Muscle fibrillation Oculomotor apraxia Trismus Abnormal pattern of respiration Status epilepticus Gout Hypomagnesemia Bile duct proliferation Gastrointestinal dysmotility Sensory ataxic neuropathy Hypertonia Respiratory insufficiency Hypoplasia of the corpus callosum Microcephaly Portal fibrosis Hypoglycemic seizures Fasting hypoglycemia Generalized tonic seizures Recurrent hypoglycemia Ketosis Hyperlipidemia Hypercholesterolemia Hypertriglyceridemia Cirrhosis Lactic acidosis Fatigue Nevus Expressive language delay



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Neuroblastoma and Cyanosis, related diseases and genetic alterations Wide nasal bridge and Unsteady gait, related diseases and genetic alterations Low-set ears and Narrow chest, related diseases and genetic alterations Peripheral neuropathy and Macroglossia, related diseases and genetic alterations Abnormal facial shape and Holoprosencephaly, related diseases and genetic alterations Short stature and Abnormality of the liver, related diseases and genetic alterations