Intrauterine growth retardation, and Coma

Diseases related with Intrauterine growth retardation and Coma

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Coma that can help you solving undiagnosed cases.


Top matches:

High match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

High match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

High 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

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Other less relevant matches:

High match WOLCOTT-RALLISON SYNDROME


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

High match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Medium match HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY


Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY Is also known as pyruvate kinase deficiency of erythrocytes|pk deficiency|pyruvate kinase deficiency of erythrocyte

Related symptoms:

  • Anemia
  • Intrauterine growth retardation
  • Fatigue
  • Edema
  • Splenomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY

Medium match HYPERINSULINISM-HYPERAMMONEMIA SYNDROME


Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Is also known as hyperinsulinism-hyperammonemia syndrome|hi/ha syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypoglycemia
  • Hyperammonemia
  • Hyperglycemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

Medium match HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY


Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

Low match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Coma

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

Patients with Intrauterine growth retardation and Coma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Hepatomegaly Seizures Renal tubular dysfunction Anemia Hyperglycemia Lethargy Hearing impairment Peripheral neuropathy Elevated hepatic transaminase Hepatitis Optic atrophy Vomiting Spasticity Lactic acidosis Neurodevelopmental delay Glycosuria Diarrhea Ataxia Hypoglycemia Abnormal heart morphology Weight loss Acidosis Generalized tonic-clonic seizures Renal insufficiency Short stature Hepatic failure Generalized myoclonic seizures Dehydration Hyperammonemia Jaundice

Rare Symptoms - Less than 30% cases


Abnormality of the liver Feeding difficulties in infancy Developmental regression Abnormality of the eye Cirrhosis Irritability Pigmentary retinopathy Pallor Progressive spasticity Neutropenia Splenomegaly Pancreatitis Acute hepatic failure Dystonia Progressive encephalopathy Myoclonus Gliosis Hyperinsulinemic hypoglycemia Hypoglycemic seizures Hepatic steatosis Cholestasis Choreoathetosis Increased serum lactate Brain atrophy Respiratory failure Abnormality of movement Hypertrophic cardiomyopathy Autoimmune antibody positivity Diabetes mellitus Reduced pancreatic beta cells Contractures of the joints of the lower limbs Edema Pancreatic hypoplasia Pneumonia Abnormality of the upper urinary tract Ketonuria Respiratory distress Prominent metopic ridge Bilateral ptosis Apraxia Downturned corners of mouth Peripheral axonal neuropathy Arthrogryposis multiplex congenita Retinopathy Steatorrhea Hypovolemia Transient neonatal diabetes mellitus Generalized hypotonia Hypertonia Cerebellar atrophy Encephalopathy Blindness Dysphagia Fatigue Micrognathia Areflexia Microcephaly Feeding difficulties Optic neuropathy Adrenal insufficiency Shock Leukoencephalopathy Apnea Ragged-red muscle fibers Patent ductus arteriosus Corpus callosum atrophy Wolff-Parkinson-White syndrome Incoordination Increased CSF lactate Oral-pharyngeal dysphagia Mental deterioration Nemaline bodies Mitochondrial myopathy Global brain atrophy Aspiration pneumonia Pericardial effusion Poor eye contact Weak cry Exercise intolerance Cardiorespiratory arrest Myalgia Basal ganglia calcification Muscular hypotonia of the trunk Renal tubular acidosis Proximal muscle weakness Wide anterior fontanel Horizontal nystagmus Progressive cerebellar ataxia Stroke Severe global developmental delay Agenesis of corpus callosum Limb muscle weakness Abnormality of eye movement Kyphoscoliosis Talipes Stage 5 chronic kidney disease Dyskinesia Babinski sign Metabolic acidosis Abnormal cerebellum morphology Premature birth Cardiac arrest Migraine Febrile seizures Cyanosis Optic disc pallor Congenital diaphragmatic hernia Cardiomegaly Hyporeflexia Coarctation of aorta Ventricular hypertrophy Left ventricular hypertrophy Abnormal pyramidal sign Leukodystrophy Aspiration Severe lactic acidosis Congenital hemolytic anemia Cerebral edema Mildly elevated creatine phosphokinase Decreased plasma carnitine Hypoketotic hypoglycemia Neonatal hypoglycemia Myoglobinuria Proportionate short stature Prolonged QT interval Confusion Dicarboxylic aciduria Dilated cardiomyopathy Neonatal hypotonia Asymptomatic hyperammonemia Hypoglycemic coma Reduced red cell pyruvate kinase activity Elevated transferrin saturation Prolonged prothrombin time Fasting hyperinsulinemia Increased red cell osmotic fragility Pruritus Intermittent jaundice Fat malabsorption Conjugated hyperbilirubinemia Intrahepatic cholestasis Hepatocellular carcinoma Elevated alkaline phosphatase Carcinoma Hepatic necrosis Neoplasm Increased C-peptide level Abnormality of acetylcarnitine metabolism Increased circulating free fatty acid level Hypoglycemic encephalopathy Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Compensated hemolytic anemia Abnormal erythrocyte morphology Acute pancreatitis Progressive macrocephaly Thrombocytopenia Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Cardiogenic shock Sepsis Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Nausea and vomiting Chorea Increased serum iron Anisocytosis Abnormality of the amniotic fluid Unconjugated hyperbilirubinemia Chronic hemolytic anemia Nonspherocytic hemolytic anemia Cholecystitis Poikilocytosis Nonimmune hydrops fetalis Hemiplegia/hemiparesis Increased serum ferritin Thrombocytosis Reticulocytosis Prolonged neonatal jaundice Cholelithiasis Hydrops fetalis Hemolytic anemia Hernia Barrel-shaped chest Congestive heart failure Gastrointestinal dysmotility Gastric ulcer Micronodular cirrhosis Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Bile duct proliferation Astrocytosis Tics Multifocal seizures Fetal akinesia sequence Severe failure to thrive Increased CSF protein Abnormality of visual evoked potentials Celiac disease Spastic diplegia Chronic hepatitis Cerebral degeneration Encephalitis Epicanthus Severe short stature Delayed skeletal maturation Obesity Kyphosis Gait disturbance Brachydactyly Depressed nasal bridge Phonic tics High palate Pain Hypertelorism Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Akinesia Slurred speech Upslanted palpebral fissure Fever Rigidity Retrognathia Hyperactivity Dementia Visual loss Cerebral atrophy Elevated hemoglobin A1c Neurodegeneration Abnormality of the pancreatic islet cells Maternal diabetes Insulin resistance Neonatal insulin-dependent diabetes mellitus Microalbuminuria Intellectual disability, severe Paralysis Aciduria Abnormality of vision Clumsiness Intellectual disability, progressive Spastic paraparesis Paraparesis Cerebral visual impairment Decreased liver function Hepatic fibrosis Progressive neurologic deterioration Focal-onset seizure Hemiparesis Status epilepticus Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Memory impairment Osteoporosis Brachycephaly Myopathy Decreased hip abduction Abnormality of pancreas morphology Irregular carpal bones Bilateral coxa valga Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Hip subluxation Intracerebral periventricular calcifications Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Ivory epiphyses of the phalanges of the hand Irregular tarsal ossification Thin bony cortex Hyperreflexia Atrial septal defect Cardiomyopathy Respiratory insufficiency Talipes equinovarus Macrocephaly Skeletal muscle atrophy Visual impairment Ivory epiphyses of the toes Ptosis Abnormal facial shape Muscle weakness Sensorineural hearing impairment Strabismus Nystagmus Small epiphyses Multiple epiphyseal dysplasia Hypothyroidism Hypermetropia Microdontia Triangular face Recurrent fractures Nephropathy Thin vermilion border Genu valgum Platyspondyly Abnormality of the metaphysis Hip dislocation Joint stiffness Hyperlordosis Hepatosplenomegaly Osteopenia High forehead Blue sclerae Abnormality of epiphysis morphology Cone-shaped epiphyses of the phalanges of the hand Hyperuricemia Ketoacidosis Irregular vertebral endplates Overweight Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Short thorax Coxa valga Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Wormian bones Type I diabetes mellitus Giant cell hepatitis



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