Motor delay, and Jaundice

Diseases related with Motor delay and Jaundice

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

Top matches:

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

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 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

Other less relevant matches:

Medium 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

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

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

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

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia Elevated hepatic transaminase Respiratory distress Hypertonia Microcephaly Recurrent respiratory infections Fatigue Diarrhea Kyphosis Intrauterine growth retardation Short stature Decreased liver function Hepatic failure Dysphagia Encephalopathy Developmental regression Ataxia Acidosis Anemia Growth delay Aciduria Splenomegaly Vomiting Feeding difficulties Coma Hearing impairment Hepatosplenomegaly Irritability Abnormal facial shape Nausea and vomiting Weight loss Cerebellar atrophy Progressive neurologic deterioration Dementia Abnormality of the liver Lactic acidosis Edema Peripheral neuropathy Increased serum lactate Hyperammonemia Fever Osteoporosis Brain atrophy Respiratory failure Congestive heart failure Respiratory tract infection Dystonia Gait disturbance Cerebral atrophy Areflexia Muscle weakness

Rare Symptoms - Less than 30% cases

Myopathy Sepsis Behavioral abnormality Opisthotonus Brachycephaly Umbilical hernia Progressive spasticity Renal tubular dysfunction Ketonuria Intracranial hemorrhage Metabolic acidosis Dysarthria Recurrent infections Ethylmalonic aciduria Intellectual disability, severe Thin vermilion border Delayed skeletal maturation Pulmonary hypoplasia Type I diabetes mellitus Optic atrophy Cryptorchidism Hepatic steatosis Fetal akinesia sequence 3-Methylglutaconic aciduria Neurodegeneration Anorexia Cholestasis Choreoathetosis Tremor Tetraparesis Slurred speech Hepatitis Generalized-onset seizure Abnormality of the metaphysis Akinesia Gliosis Cirrhosis Feeding difficulties in infancy Thickened skin Wormian bones Rigidity Joint hyperflexibility Hyperactivity Myoclonus Spastic tetraparesis Sensorineural hearing impairment Cataract Cardiomyopathy Micrognathia Ketotic hypoglycemia Cognitive impairment Recurrent fractures Scoliosis Strabismus Nephropathy Corneal opacity Joint stiffness Abnormality of the eye Hypertrophic cardiomyopathy Pallor Arthralgia Nausea Limb muscle weakness Respiratory insufficiency Cardiac arrest Pain Hernia Depressed nasal bridge Upslanted palpebral fissure Arrhythmia Glycosuria Dyspnea High forehead Cholelithiasis Hyperlordosis Lethargy Neuronal loss in central nervous system Dyskinesia Ascites Inguinal hernia Dilatation Spontaneous hematomas Histiocytosis Psychomotor deterioration Macrocephaly Osteopenia Nonimmune hydrops fetalis High palate Abnormality of vision Hydrops fetalis Spondyloepiphyseal dysplasia Preauricular pit Fatigable weakness of distal limb muscles Diabetes mellitus Epiphyseal dysplasia Fatigable weakness of neck muscles Coxa valga Abnormality of epiphysis morphology Severe short stature Blue sclerae Hypothyroidism Abnormality of branched chain family amino acid metabolism Hyperglycemia Abnormal heart morphology Dehydration Platyspondyly Ragged-red muscle fibers Triangular face Hypertelorism Neutropenia Genu valgum Abnormality of blood glucose concentration Hypermetropia Brachydactyly Epicanthus Electron transfer flavoprotein-ubiquinone oxidoreductase defect Microdontia Hepatic periportal necrosis Renal insufficiency Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hip dislocation Obesity Pancreatitis Poor head control Hypersarcosinemia Clonus Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Abnormal corpus callosum morphology Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Back pain Polycystic kidney dysplasia Abnormality of the renal tubule Loss of ability to walk Reye syndrome-like episodes Impaired mastication Reduced protein C activity Elevated plasma acylcarnitine levels Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Scapular winging Narcolepsy Cataplexy Renal cortical cysts Limb tremor Easy fatigability Mutism Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Exercise intolerance Generalized aminoaciduria Respiratory arrest Acute pancreatitis Leukodystrophy Abnormality of neuronal migration Lymphadenopathy Short thorax Petechiae Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Hypokinesia Interstitial pulmonary abnormality Abnormality of coagulation Hypomagnesemia Menorrhagia Athetosis Heart murmur Clubbing Hyponatremia Ectropion Abnormality of the thorax Portal hypertension Bilateral ptosis Poor suck Leukopenia Oculomotor apraxia Purpura Aspiration pneumonia Bulbar signs Hyperbilirubinemia Abducens palsy Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs CSF pleocytosis Orthopnea Laryngeal stridor Giant cell hepatitis Intestinal bleeding Subcutaneous hemorrhage Axial dystonia Trismus Hemophagocytosis Eclabion Abnormal pattern of respiration Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Slow saccadic eye movements Osteolysis Knee flexion contracture Neurodevelopmental delay Enlarged thorax Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Small epiphyses Irregular carpal bones Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Irregular vertebral endplates Overweight Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Hyperuricemia Steatorrhea Bilateral coxa valga Reduced pancreatic beta cells Hypocalcemia Abnormal bleeding Elbow flexion contracture Aspiration Bone pain Progressive microcephaly Decreased body weight Pulmonary arterial hypertension Epistaxis Pancytopenia Decreased fetal movement Cyanosis Abnormality of the skin Syncope Generalized myoclonic seizures Abnormality of pancreas morphology Abnormality of eye movement Ophthalmoplegia Cough Apnea Gastroesophageal reflux Polyhydramnios Abdominal pain Thrombocytopenia Flexion contracture Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Wide anterior fontanel Abnormality of the face Left ventricular hypertrophy Paralysis Hepatic fibrosis Clumsiness Hemiparesis Status epilepticus Epileptic encephalopathy Memory impairment Focal-onset seizure Peripheral axonal neuropathy Abnormality of movement Generalized tonic-clonic seizures Retrognathia Paraparesis Pneumonia Visual loss Blindness 3-Methylglutaric aciduria Neonatal sepsis Increased total bilirubin Demyelinating peripheral neuropathy Abnormality of the coagulation cascade Abnormality of mitochondrial metabolism Truncal ataxia Lower limb spasticity Cerebral visual impairment Spastic paraparesis Febrile seizures Micronodular cirrhosis Frontal bossing Downslanted palpebral fissures Hypertension Low-set ears Cerebral cortical neurodegeneration Epilepsia partialis continua Phonic tics Cerebral degeneration Multifocal seizures Chronic hepatitis Gastric ulcer Microvesicular hepatic steatosis Intellectual disability, progressive Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Severe failure to thrive Increased CSF protein Progressive encephalopathy Abnormality of visual evoked potentials Celiac disease Spastic diplegia Encephalitis Abnormality of extrapyramidal motor function Inability to walk Ventriculomegaly Hemolytic anemia Diaphragmatic paralysis Abnormality of immune system physiology Macrocytic anemia Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Progressive muscle weakness Involuntary movements Intention tremor Oligohydramnios Optic disc pallor Unsteady gait Cholecystitis Abnormal pyramidal sign Babinski sign Hyporeflexia Skeletal muscle atrophy Hyperreflexia Impairment of galactose metabolism Galactosuria Hypergalactosemia Delayed gross motor development Aminoaciduria Delayed speech and language development Normocytic anemia Nonspherocytic hemolytic anemia Abnormality of skin pigmentation Pulmonary fibrosis Paraplegia Spastic paraplegia Absent speech Visual impairment Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Juvenile rheumatoid arthritis Joint swelling Weak cry Decreased muscle mass Normochromic anemia Rheumatoid arthritis Laryngomalacia Spontaneous abortion Hoarse voice Subcutaneous nodule Arthritis Nystagmus Central nervous system degeneration Congenital hemolytic anemia Chronic hemolytic anemia Abnormal posturing Abnormality of the skeletal system Anteverted nares Renal dysplasia Hypopigmentation of hair Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Abnormality of lipid metabolism Prolonged neonatal jaundice Arterial stenosis Tarsal synostosis Prominent occiput Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Hyperextensible skin Coarse hair Abnormal palate morphology Shock Venous insufficiency Multiple joint dislocation Joint dislocation Dilated cardiomyopathy Heterotopia Pachygyria Abnormality of the genital system Cardiomegaly Waddling gait Generalized muscle weakness Tetraplegia Muscle cramps Renal cyst Congenital cataract Abnormality of the cerebral white matter Abnormality of the pinna Hypocupremia Telecanthus Myalgia Proximal muscle weakness Difficulty walking Gait ataxia Elevated serum creatine phosphokinase Depressivity Headache Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Cutis laxa Chronic diarrhea Hypoplasia of the corpus callosum Facial asymmetry Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Pigmentary retinopathy Overgrowth Hip dysplasia Urinary incontinence Vesicoureteral reflux Polymicrogyria Broad forehead Obsessive-compulsive behavior Attention deficit hyperactivity disorder Retinopathy Craniosynostosis Hydronephrosis Thin upper lip vermilion Narrow mouth Polydactyly Prominent forehead Agenesis of corpus callosum Short nose Hydrocephalus Overfolded helix Cutis marmorata Bowing of the long bones Sparse hair Sparse scalp hair Fine hair Intellectual disability, profound Gastrointestinal hemorrhage Chorea Full cheeks Hypopigmentation of the skin Dry skin Narrow chest Malabsorption Severe global developmental delay Joint laxity Absent septum pellucidum Pectus excavatum Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia EEG with temporal sharp waves


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