Intrauterine growth retardation, and Hypertrophic cardiomyopathy

Diseases related with Intrauterine growth retardation and Hypertrophic cardiomyopathy

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

Top matches:

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Other less relevant matches:

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

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Lactic acidosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Increased serum lactate Acidosis Respiratory insufficiency Feeding difficulties Growth delay Neonatal hypotonia Patent ductus arteriosus Microcephaly Cerebellar atrophy Encephalopathy Muscular hypotonia Dilated cardiomyopathy Failure to thrive Decreased fetal movement Feeding difficulties in infancy Thin vermilion border Cognitive impairment

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Motor delay Muscle weakness Cleft palate Flexion contracture Areflexia Pes planus Intellectual disability Hypertonia Dystonia Ventricular hypertrophy Left ventricular hypertrophy Severe lactic acidosis Decreased activity of mitochondrial complex III Hepatomegaly Bradycardia Cryptorchidism Wide nasal bridge Short neck Obesity Micrognathia Hypoplastic left heart Cerebral atrophy Decreased activity of mitochondrial complex I Metabolic acidosis Abnormality of mitochondrial metabolism Congestive heart failure Hearing impairment Sensorineural hearing impairment Hyperalaninemia Dysphagia Visual impairment Decreased activity of mitochondrial complex IV Scoliosis Failure to thrive in infancy Small nail Short chin Dandy-Walker malformation Delayed myelination Bifid uvula Lissencephaly Epileptic encephalopathy Cutis marmorata Protruding tongue Periorbital fullness Skull asymmetry Hypertelorism Hypertension Edema Blindness Severe failure to thrive Wide mouth Macroglossia Hypoplasia of the corpus callosum Apathy Rhabdomyolysis Optic neuropathy Concentric hypertrophic cardiomyopathy Abnormal facial shape Brachydactyly Ventricular septal defect Anteverted nares Hydrocephalus Severe global developmental delay Long philtrum Absent speech Hernia Arrhythmia Retrognathia Coarse facial features Umbilical hernia Hypogonadism Splenomegaly Jaundice Cerebral cortical atrophy Wide intermamillary distance Weight loss High forehead Deeply set eye Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Prominent nasal bridge Poor speech Tapered finger Full cheeks Tetralogy of Fallot Hypospadias Congenital diaphragmatic hernia Broad thumb Proximal placement of thumb Atrioventricular canal defect Transposition of the great arteries Biparietal narrowing External ear malformation Pulmonary artery stenosis Broad hallux phalanx Abnormal aortic morphology Upslanted palpebral fissure Abnormality of cardiovascular system morphology Ragged-red muscle fibers Nonimmune hydrops fetalis Hepatosplenomegaly Hepatic failure Nephropathy Ascites Nephrotic syndrome Large fontanelles Portal hypertension Abnormality of coagulation Abnormality of immune system physiology Type I transferrin isoform profile Short nose Abnormality of the amniotic fluid Budd-Chiari syndrome Short stature Strabismus Low-set ears High palate Epicanthus Downslanted palpebral fissures Behavioral abnormality Intellectual disability, mild Patent foramen ovale Respiratory failure Severe muscular hypotonia Increased circulating free fatty acid level Decreased plasma carnitine Prolonged prothrombin time Hypoglycemic seizures Dicarboxylic aciduria Fasting hyperinsulinemia Hepatic necrosis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Abnormality of acetylcarnitine metabolism Hyperinsulinemic hypoglycemia Increased C-peptide level Respiratory distress Hyperglutaminemia Fever Skeletal muscle atrophy Fatigue Talipes equinovarus Myopathy Polyhydramnios Hypoketotic hypoglycemia Acute hepatic failure Myocardial necrosis Diarrhea Polyneuropathy Neonatal respiratory distress Mental deterioration Motor deterioration Astrocytosis Decreased activity of mitochondrial respiratory chain EEG abnormality Cerebellar hypoplasia Vomiting Elevated hepatic transaminase Neonatal hypoglycemia Lethargy Confusion Hepatic steatosis Pigmentary retinopathy Hyperammonemia Mildly elevated creatine phosphokinase Prolonged QT interval Proportionate short stature Myoglobinuria Kyphoscoliosis Proximal muscle weakness Sensorimotor neuropathy Abnormality of the renal tubule Small for gestational age Abnormality of the basal ganglia Postnatal microcephaly Aminoaciduria Opisthotonus Hypokinesia Weak cry Hypothermia Abnormal renal physiology Abnormal enzyme/coenzyme activity Cytochrome C oxidase-negative muscle fibers Decreased activity of mitochondrial complex II Infantile muscular hypotonia Ataxia Optic atrophy Tremor Ventriculomegaly Elevated serum creatine phosphokinase Neuronal loss in central nervous system Peripheral axonal neuropathy Apnea Oroticaciduria Facial palsy Ophthalmoparesis Hip dislocation Muscular dystrophy Arthrogryposis multiplex congenita Talipes Muscle cramps Generalized muscle weakness Abnormal mitochondrial morphology Congenital hip dislocation Limb-girdle muscular dystrophy Myopathic facies Hyperreflexia Spinal rigidity Centrally nucleated skeletal muscle fibers Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Minicore myopathy Enlarged thorax


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