Delayed speech and language development, and Hepatomegaly

Diseases related with Delayed speech and language development and Hepatomegaly

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


Top matches:

Medium match PYRIDOXINE-DEPENDENT EPILEPSY

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency; vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase; vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: UMLS ORPHANET

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Hepatomegaly


SOURCES: DOID MONDO OMIM UMLS

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

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Other less relevant matches:

Medium match GALACTOSE EPIMERASE DEFICIENCY

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as gale deficiency, galactosemia iii, udp-galactose-4-epimerase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET SCTID OMIM UMLS

More info about GALACTOSE EPIMERASE DEFICIENCY

Medium match JOUBERT SYNDROME 8; JBTS8

Related symptoms:

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


SOURCES: OMIM MESH MONDO DOID UMLS

More info about JOUBERT SYNDROME 8; JBTS8

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 Is also known as ;bola3 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM UMLS MONDO DOID

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Medium match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Myopathy
  • Feeding difficulties
  • Hepatomegaly
  • Vomiting


SOURCES: UMLS ORPHANET

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

COXPD12 is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 Is also known as leukoencephalopathy with thalamus and brainstem involvement and high lactate;ltbl;coxpd12; combined oxidative phosphorylation defect type 12; ltbl

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MONDO UMLS GARD ORPHANET OMIM

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12

Medium match STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1 ), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012).For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see {194380}.

STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN Is also known as glut1 deficiency syndrome with pseudohyperkalemia and hemolysis, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;chc type 2; hereditary cryohydrocytosis type 2; stomatin-deficient cryohydrocytosis; sdchc

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH OMIM UMLS

More info about STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

Medium match 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic AciduriaMethylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS ), is caused by mutation in the tafazzin gene (TAZ ) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3 ), caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4 ) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5 ), caused by mutation in the DNAJC19 gene (OMIM ) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6 ), caused by mutation in the SERAC1 gene (OMIM ) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7 ), caused by mutation in the CLPB gene (OMIM ) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MCGA (MGCA8 ) is caused by mutation in the HTRA2 gene (OMIM ) on chromosome 2p13. Type IX MCGA (MGCA9 ) is caused by mutation in the TIMM50 gene (OMIM ) on chromosome 19q13.Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'

3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Is also known as mga, type i;mga1, 3-methylglutaconyl-coa hydratase deficiency, 3-mg-coa-hydratase deficiency;3-methylglutaconyl-coa hydratase deficiency; 3mg-coa hydratase deficiency; mga1

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: SCTID ORPHANET MONDO MESH OMIM NCIT UMLS GARD DOID

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hepatomegaly

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

Patients with Delayed speech and language development and Hepatomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Infantile onset Ataxia Muscular hypotonia Spasticity Absent speech Encephalopathy Lethargy Failure to thrive Hepatic steatosis Gait ataxia Jaundice Vomiting Optic atrophy Dystonia

Rare Symptoms - Less than 30% cases


Respiratory distress Microcephaly Feeding difficulties Splenomegaly Aciduria Hyperreflexia Nystagmus Visual impairment Myopathy Cholestasis Hypertrophic cardiomyopathy Lactic acidosis Leukoencephalopathy Spastic tetraparesis Abnormality of the cerebral white matter Acidosis Cataract Hypertonia Coma Nausea and vomiting Elevated hepatic transaminase Hyperammonemia Growth delay Choreoathetosis Progressive cerebellar ataxia Ragged-red muscle fibers Macrovesicular hepatic steatosis Dysplastic corpus callosum Decreased activity of mitochondrial complex I Severe global developmental delay Urinary incontinence Neurodegeneration Decreased activity of mitochondrial complex III 3-Methylglutaconic aciduria Autosomal dominant inheritance Short stature Abnormality of the basal ganglia Febrile seizures Decreased activity of mitochondrial complex IV Hyperchloremic acidosis Tetraparesis Hypospadias Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mild expressive language delay Ptosis Cleft palate Hypoplasia of the corpus callosum Pneumonia Bradykinesia Abnormality of the genital system Neonatal hypotonia Developmental regression Irritability Confusion Ophthalmoplegia Increased serum lactate Tetraplegia Brachydactyly Memory impairment Motor delay Progressive visual loss Unsteady gait Zonular cataract Spastic paraparesis Hypoglycorrhachia Limb ataxia Cognitive impairment Exercise-induced rhabdomyolysis Dysarthria Cerebral atrophy Dementia Visual loss Hyperactivity Athetosis Gastroesophageal reflux Hemoglobinuria Paraparesis Hypoglycemia Short attention span Macrocephaly Hydrocephalus Oxycephaly Macrotia Hepatosplenomegaly Spastic paraplegia Hemolytic anemia Paraplegia Conjugated hyperbilirubinemia Spastic tetraplegia Delayed myelination Inability to walk Hyperbilirubinemia Hyperkalemia Broad neck Metabolic acidosis Hepatocellular necrosis Decreased activity of the pyruvate dehydrogenase complex Exercise-induced myoglobinuria Hypolipidemia Dysmetria Cirrhosis Slurred speech Steatorrhea Fat malabsorption Vertical supranuclear gaze palsy Vitamin D deficiency Hearing impairment Abnormality of the nervous system Sensorineural hearing impairment Intellectual disability, severe Weight loss Aminoaciduria Delayed gross motor development Hypergalactosemia Galactosuria Malabsorption Intellectual disability, mild Obesity Status epilepticus Strabismus Ventriculomegaly Abnormality of metabolism/homeostasis Cerebral cortical atrophy EEG abnormality Neurological speech impairment Abnormality of movement Anemia Pain Renal insufficiency Thrombocytopenia Neutropenia Sepsis Chorea Pancreatitis Hemiplegia/hemiparesis Renal tubular dysfunction Impairment of galactose metabolism Abnormality of the eye Nonketotic hypoglycemia Cardiac arrest Decreased activity of mitochondrial respiratory chain Nonketotic hyperglycinemia Myalgia Autistic behavior Generalized muscle weakness Sudden cardiac death EMG: myopathic abnormalities Tachypnea Malnutrition Muscle stiffness Prolonged QT interval Prolonged neonatal jaundice Fatigable weakness Decreased plasma carnitine Hypothermia Atrial flutter Dicarboxylic aciduria Hyperglycinemia Poor head control Abnormality of eye movement Undetectable electroretinogram Pigmentary retinopathy Optic disc pallor Encephalocele Oculomotor apraxia Cephalocele Molar tooth sign on MRI Occipital encephalocele Hyperventilation Leukodystrophy Flexion contracture Cardiomyopathy Myoclonus Respiratory failure Dilated cardiomyopathy Death in infancy Abnormality of extrapyramidal motor function Epileptic encephalopathy Progressive forgetfulness



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