Hepatomegaly, and Decreased fetal movement

Diseases related with Hepatomegaly and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Decreased fetal movement that can help you solving undiagnosed cases.

Top matches:

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

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

Other less relevant matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

High match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

High match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Top 5 symptoms//phenotypes associated to Hepatomegaly and Decreased fetal movement

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

Other less frequent symptoms

Patients with Hepatomegaly and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hepatic failure Hypertelorism Encephalopathy Peripheral neuropathy Intellectual disability Feeding difficulties Abnormal facial shape Talipes equinovarus Cerebellar atrophy Intrauterine growth retardation Optic atrophy Neonatal hypotonia Flexion contracture Lactic acidosis Micrognathia Patent ductus arteriosus Ataxia Muscle weakness Vomiting Decreased liver function Hepatic fibrosis Acidosis Hepatosplenomegaly Short stature Ascites Cirrhosis Atrial septal defect Epicanthus Cerebral atrophy Abnormal cardiac septum morphology Abnormality of the liver Elevated hepatic transaminase Cholestasis Ventriculomegaly

Rare Symptoms - Less than 30% cases

Aciduria Generalized tonic-clonic seizures Cognitive impairment Micronodular cirrhosis Muscular hypotonia of the trunk Hyperbilirubinemia Motor delay Brain atrophy Epileptic encephalopathy Brachycephaly Central hypotonia Hypothyroidism Hip dislocation Respiratory failure Progressive microcephaly Severe lactic acidosis Myoclonus Sensorimotor neuropathy Increased serum lactate Metabolic acidosis Peripheral axonal neuropathy Hypertonia Prominent nose Hearing impairment Dilated cardiomyopathy Anemia Akinesia Diarrhea Long philtrum Thrombocytopenia Arthrogryposis multiplex congenita Polyhydramnios Fetal akinesia sequence Dyspnea Hyporeflexia Congestive heart failure Edema Cardiomyopathy Abnormal intestine morphology Retrognathia Hydrops fetalis Focal-onset seizure Severe global developmental delay Ventricular septal defect Cataract Low-set ears Areflexia Recurrent infections Blindness Visual loss Immunodeficiency Pneumonia Dementia Hip dysplasia Hepatic steatosis Pancytopenia Hypoplasia of the corpus callosum Hyperactivity Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Jaundice Abnormal isoelectric focusing of serum transferrin Rigidity Chronic diarrhea Hyperhidrosis Dysphagia Cerebral cortical atrophy Malabsorption Aggressive behavior Proximal tubulopathy Impaired T cell function Hyperkeratosis Abnormal cortical gyration Abnormal bleeding Polydactyly Decreased antibody level in blood Postaxial polydactyly Lymphopenia Macrovesicular hepatic steatosis Gastrointestinal inflammation Neurodevelopmental delay Abnormal T cell morphology Type II transferrin isoform profile Spasticity Fever Hypohidrosis Encephalitis Abnormality of the eye Skeletal dysplasia Gastric ulcer Chronic hepatitis Multifocal seizures Cerebral degeneration Phonic tics Epilepsia partialis continua Ethylmalonic aciduria Cerebral cortical neurodegeneration Depressed nasal bridge Hyperreflexia Frontal bossing Kyphosis Short nose Delayed skeletal maturation Wide mouth 3-Methylglutaconic aciduria Poor speech Asthma Delayed myelination Esotropia Wide intermamillary distance Broad thumb Lipodystrophy Tricuspid regurgitation Cutis marmorata Global brain atrophy Pericardial effusion Aplasia cutis congenita Inverted nipples Nonimmune hydrops fetalis Microvesicular hepatic steatosis Bile duct proliferation Developmental regression Cerebral visual impairment Paralysis Abnormality of movement Neurodegeneration Coma Gliosis Memory impairment Neuronal loss in central nervous system Generalized-onset seizure Hepatitis Status epilepticus Hemiparesis Progressive neurologic deterioration Choreoathetosis Clumsiness Paraparesis Astrocytosis Spastic paraparesis Intellectual disability, progressive Abnormality of vision Slurred speech Abnormality of the renal tubule Spastic diplegia Progressive spasticity Celiac disease Abnormality of visual evoked potentials Progressive encephalopathy Increased CSF protein Severe failure to thrive Tics Gastrointestinal dysmotility Primary hypothyroidism Agenesis of corpus callosum Protein-losing enteropathy Ragged-red muscle fibers Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Visual impairment Tremor Respiratory insufficiency Dystonia Elevated serum creatine phosphokinase Hypertrophic cardiomyopathy Feeding difficulties in infancy Severe muscular hypotonia Patent foramen ovale Epiphyseal stippling Apathy Rhabdomyolysis Optic neuropathy Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Wide nasal bridge Hydrocephalus Triangular face Sepsis Secundum atrial septal defect Round face Decreased body weight Reduced tendon reflexes Hypertension Skeletal muscle atrophy Myopathy Difficulty walking Proximal muscle weakness Hyperlordosis Muscular dystrophy Limb muscle weakness Sudden cardiac death Waddling gait Exercise intolerance Portal hypertension Pulmonic stenosis Limb-girdle muscular dystrophy Myopathic facies Difficulty climbing stairs Exertional dyspnea Esophageal varix Generalized edema Tubulointerstitial fibrosis Limb joint contracture High palate Downslanted palpebral fissures High forehead Broad forehead Peripheral demyelination Wide anterior fontanel Hypoalbuminemia Cleft soft palate Limitation of joint mobility Sloping forehead Cerebellar vermis hypoplasia Spina bifida Lissencephaly Partial agenesis of the corpus callosum Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Dilation of lateral ventricles Organic aciduria Osteopenia Congenital microcephaly Spinal dysraphism Temperature instability Small anterior fontanelle Cryptorchidism Brachydactyly Short neck Camptodactyly Pulmonary hypoplasia Large fontanelles Lymphedema Tachypnea Irritability Osteoporosis Cholelithiasis Sensorineural hearing impairment Scaphocephaly Double outlet right ventricle Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Delayed speech and language development Cerebellar hypoplasia Midface retrusion Thin upper lip vermilion Distal muscle weakness Progressive cerebellar ataxia Postnatal microcephaly Exotropia Proximal placement of thumb Steatorrhea Shawl scrotum Exocrine pancreatic insufficiency Ankle contracture Pancreatic fibrosis Delayed CNS myelination


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