Hepatomegaly, and Areflexia

Diseases related with Hepatomegaly and Areflexia

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

Top matches:

The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Other less relevant matches:

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

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

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Areflexia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Hearing impairment Failure to thrive Hepatic failure Splenomegaly Hyporeflexia Ichthyosis Seizures Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Feeding difficulties High palate Pneumonia Neck muscle weakness Muscular dystrophy Decreased plasma carnitine Increased muscle lipid content Jaundice Cardiomyopathy Skeletal muscle atrophy Cataract Waddling gait Hepatic steatosis Myalgia Ptosis Peripheral neuropathy Pain Intellectual disability Generalized neonatal hypotonia Epiphyseal stippling Congestive heart failure Elevated hepatic transaminase Feeding difficulties in infancy Muscular hypotonia Global developmental delay High forehead Low-set ears Nystagmus Ataxia Bone-marrow foam cells Progressive proximal muscle weakness Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Cherry red spot of the macula Xanthomatosis Strabismus Difficulty running Obesity Gowers sign Progressive muscle weakness Diabetes mellitus Difficulty walking Proximal muscle weakness Alopecia Distal muscle weakness Hypertriglyceridemia Recurrent infections Foam cells with lamellar inclusion bodies Insulin resistance Fasciculations Exercise intolerance Hyperlipidemia Fatigue Easy fatigability Psoriasiform dermatitis Generalized ichthyosis Microtia Macroglossia Respiratory insufficiency Respiratory distress Hypothyroidism Acidosis Pes planus Facial palsy Hyperlordosis Lactic acidosis Generalized muscle weakness Increased serum lactate Right aortic arch Lumbar hyperlordosis Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Myopathic facies Mitochondrial myopathy Severe lactic acidosis Increased serum pyruvate Cytochrome C oxidase-negative muscle fibers Increased muscle glycogen content Motor delay Perimembranous ventricular septal defect Everted lower lip vermilion Hypertelorism Aortic regurgitation Scaling skin Ectropion Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Prolonged neonatal jaundice Micrognathia Secundum atrial septal defect Epicanthus Downslanted palpebral fissures Ventricular septal defect Atrial septal defect Broad forehead Severe global developmental delay Pulmonic stenosis Round face Prominent nose Decreased fetal movement Protuberant abdomen Abetalipoproteinemia Microcytic anemia Cirrhosis Diarrhea Pes cavus Severe short stature Rod-cone dystrophy Carcinoma Abnormality of the liver Pruritus Ophthalmoplegia Sepsis Painless fractures due to injury Neuronal loss in central nervous system Cholestasis Hepatic fibrosis Hyperbilirubinemia Pancreatitis Congenital sensorineural hearing impairment Malnutrition Steatorrhea Growth delay Acetabular dysplasia Thrombocytosis Recurrent fractures Wide nasal bridge Dilatation Flat face Bradycardia Polycystic kidney dysplasia Fever Intellectual disability, mild Hyperhidrosis Urinary incontinence Pain insensitivity Hypohidrosis Abnormal autonomic nervous system physiology Anosmia Steppage gait Anhidrosis Bowel incontinence Decreased number of peripheral myelinated nerve fibers Hyposmia Recurrent corneal erosions Hepatocellular carcinoma Intrahepatic cholestasis Athetosis Phonic tics Obsessive-compulsive behavior Abnormality of the musculature Rhabdomyolysis Aspiration pneumonia Motor axonal neuropathy Acanthocytosis Tics Personality disorder Spasticity Aspiration Vomiting Constipation Recurrent respiratory infections Osteoporosis Rigidity Irritability Respiratory tract infection Lymphadenopathy Sleep disturbance EMG abnormality Atrial fibrillation Conjugated hyperbilirubinemia Dysarthria Fat malabsorption Intermittent jaundice Vitamin E deficiency Civatte bodies Increased serum bile acid concentration Intrahepatic cholestasis with episodic jaundice Cognitive impairment Anemia Behavioral abnormality Cardiomegaly Dystonia Depressivity Arrhythmia Myoclonus Anxiety Dilated cardiomyopathy Dyskinesia Chorea Generalized-onset seizure Muscle fiber hypertrophy


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