Motor delay, and Cholestasis

Diseases related with Motor delay and Cholestasis

In the following list you will find some of the most common rare diseases related to Motor delay and Cholestasis that can help you solving undiagnosed cases.


Top matches:

Medium match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

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 udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

Medium match PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

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Other less relevant matches:

Medium match HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Low match MEGDEL SYNDROME


MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

MEGDEL SYNDROME Is also known as mgca6|3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome|3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome|megdhel|3-methylglutaconic aciduria, type vi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGDEL SYNDROME

Low match ALPERS-HUTTENLOCHER SYNDROME


Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Cholestasis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Jaundice Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Motor delay and Cholestasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased liver function Seizures Abnormality of the liver Lactic acidosis Hepatomegaly Hepatic failure Microcephaly Peripheral neuropathy Muscular hypotonia Hearing impairment Cardiomyopathy Feeding difficulties Spasticity Respiratory distress Respiratory insufficiency Vomiting Elevated hepatic transaminase Acidosis Sensorineural hearing impairment Splenomegaly Respiratory failure Encephalopathy Optic atrophy Increased serum lactate Anemia Aciduria Recurrent respiratory infections Growth delay Areflexia

Rare Symptoms - Less than 30% cases


Brain atrophy Dyskinesia Psychomotor deterioration Hyperreflexia Intrauterine growth retardation Hypoplasia of the corpus callosum Hypertonia Cerebellar atrophy Metabolic acidosis Recurrent infections Hypoglycemia Progressive encephalopathy Kyphosis Ataxia Neuronal loss in central nervous system Hyperammonemia Muscle weakness Hydrops fetalis Developmental regression Dysphagia 3-Methylglutaconic aciduria Congestive heart failure Cerebral atrophy Dystonia Respiratory tract infection Progressive spasticity Nystagmus Myopathy Severe failure to thrive Aminoaciduria Abnormality of vision Strabismus Hepatic steatosis Cirrhosis Abnormality of the eye Short stature Edema Abnormal facial shape Delayed myelination Hepatitis Sepsis Spastic paraplegia Severe hydrocephalus Hepatosplenomegaly Absent speech Arthralgia Abnormality of the coagulation cascade Osteoporosis Abnormality of skin pigmentation Paraplegia Periventricular gray matter heterotopia Abnormality of mitochondrial metabolism Inability to walk Truncal ataxia Lower limb spasticity Abnormality of extrapyramidal motor function Febrile seizures Arthritis Nephropathy Irritability Cherry red spot of the macula Nonimmune hydrops fetalis Juvenile rheumatoid arthritis Histiocytosis Renal tubular dysfunction Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Hoarse cry Periarticular subcutaneous nodules Joint stiffness Lipogranulomatosis Scoliosis Spontaneous abortion Hoarse voice Subcutaneous nodule Cognitive impairment Visual impairment Ascites Joint swelling Corneal opacity Weak cry Peripheral axonal neuropathy Ketonuria Fetal akinesia sequence Hepatic fibrosis Cerebral visual impairment Paraparesis Spastic paraparesis Intellectual disability, progressive Slurred speech Encephalitis Akinesia Spastic diplegia Celiac disease Abnormality of visual evoked potentials Increased CSF protein Tics Choreoathetosis Gastrointestinal dysmotility Astrocytosis Bile duct proliferation Microvesicular hepatic steatosis Micronodular cirrhosis Gastric ulcer Chronic hepatitis Multifocal seizures Cerebral degeneration Phonic tics Epilepsia partialis continua Ethylmalonic aciduria Clumsiness Progressive neurologic deterioration Demyelinating peripheral neuropathy Retrognathia Increased total bilirubin Neonatal sepsis Ketotic hypoglycemia 3-Methylglutaric aciduria Micrognathia Fever Blindness Visual loss Pneumonia Dementia Myoclonus Hyperactivity Rigidity Hemiparesis Paralysis Generalized tonic-clonic seizures Abnormality of movement Colpocephaly Neurodegeneration Coma Gliosis Focal-onset seizure Memory impairment Epileptic encephalopathy Generalized-onset seizure Status epilepticus Macular hypoplasia Recurrent myoglobinuria Abnormal cortical gyration Hyporeflexia Bradykinesia Global brain atrophy Hypokinesia Poor eye contact Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Skeletal muscle atrophy Tremor Gait disturbance Fatigue Babinski sign Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Pallor Abnormal pyramidal sign Limb muscle weakness Unsteady gait Hemolytic anemia Optic disc pallor Oligohydramnios Intention tremor Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Small hand Epicanthus Cholelithiasis Nausea and vomiting Hypothyroidism Dyspnea Cough Abnormal lung morphology Clubbing Interstitial pulmonary abnormality Alveolar proteinosis Cataract Delayed speech and language development Intellectual disability, severe Weight loss Delayed gross motor development Depressed nasal bridge Hypergalactosemia Galactosuria Impairment of galactose metabolism Neoplasm Abnormality of the dentition Behavioral abnormality Poor head control Neoplasm of the liver Hypertyrosinemia Hypermethioninemia Low-set ears High palate Decreased nerve conduction velocity Macrocytic anemia Communicating hydrocephalus Joint hypermobility Ventriculomegaly Hydrocephalus Atrial septal defect Hernia Cerebellar hypoplasia Posteriorly rotated ears Polyhydramnios Cleft lip Coloboma Abnormal cardiac septum morphology Facial asymmetry Bulbous nose Downslanted palpebral fissures Pulmonary hypoplasia Iris coloboma Intestinal malrotation Dandy-Walker malformation Microdontia Congenital diaphragmatic hernia Heterotopia Wide anterior fontanel Microretrognathia Lissencephaly Relative macrocephaly Cortical gyral simplification Frontal bossing Macrocephaly Abnormality of immune system physiology Myalgia Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Arrhythmia Elevated serum creatine phosphokinase Apnea Prenatal maternal abnormality Feeding difficulties in infancy Small for gestational age Dilated cardiomyopathy Lethargy Muscle cramps Pigmentary retinopathy Exercise intolerance Infantile muscular hypotonia Rhabdomyolysis Myoglobinuria Hypoketotic hypoglycemia Abnormality of the amniotic fluid Cerebral cortical neurodegeneration



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Ventriculomegaly, related diseases and genetic alterations

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