Hepatomegaly, and Difficulty walking

Diseases related with Hepatomegaly and Difficulty walking

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Difficulty walking 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

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

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

Other less relevant matches:

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Difficulty walking

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Muscle weakness Seizures Proximal muscle weakness Abnormality of movement Intellectual disability Muscular dystrophy Tremor Ataxia Elevated hepatic transaminase Fatigue Global developmental delay Waddling gait Scoliosis Abnormality of the liver Myopathy Cardiomyopathy Hyporeflexia Peripheral neuropathy Congestive heart failure Areflexia Elevated serum creatine phosphokinase Recurrent respiratory infections Hepatic steatosis Myalgia Failure to thrive Hyperlordosis Hypertrophic cardiomyopathy Progressive proximal muscle weakness Dystonia Microcephaly Fever Dysarthria EEG abnormality Flexion contracture Decreased liver function Muscular hypotonia Hepatosplenomegaly Strabismus

Rare Symptoms - Less than 30% cases

Feeding difficulties Cerebellar atrophy Anemia Encephalopathy Gliosis Rigidity Optic atrophy Coxa valga Dysmetria Neurodegeneration Growth delay Polyneuropathy Constipation Jaundice Hypertension Gastrointestinal hemorrhage Leukopenia Scapular winging Alacrima Action tremor Axonal loss Ptosis Frontal bossing Truncal ataxia Apraxia Dysphagia Abnormality of extrapyramidal motor function Bradykinesia Carious teeth Absent speech Hyperactivity Headache Parkinsonism Edema Hypertriglyceridemia Aspiration Esophageal varix Exercise intolerance Short stature Paresthesia Dyspnea Portal hypertension Recurrent infections Sensory neuropathy Cirrhosis Peripheral demyelination Abnormality of the eye Exertional dyspnea Limb-girdle muscular dystrophy Limb muscle weakness Easy fatigability Paralysis Progressive muscle weakness Difficulty running Gowers sign Recurrent bacterial skin infections Macular hypoplasia Partial albinism Recurrent cutaneous abscess formation Leukemia Abnormal leukocyte morphology Hypofibrinogenemia Paraplegia Spastic paraplegia Developmental regression Oculogyric crisis Hypertelorism Giant melanosomes in melanocytes Respiratory distress Atrial septal defect Immunodeficiency Apnea Osteoporosis Hyperhidrosis Myoclonus Ventriculomegaly Abnormality of multiple cell lineages in the bone marrow Thrombocytopenia Reduced visual acuity Photophobia Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Mental deterioration Hypersplenism Periodontitis Progressive peripheral neuropathy Hypopigmentation of the skin Abnormality of vision Visual impairment Cranial nerve paralysis Bruising susceptibility Foot dorsiflexor weakness Neutropenia Skin ulcer Falls Abnormal bleeding Brain atrophy Hyperpigmentation of the skin Lymphoma Respiratory tract infection Pancytopenia Epistaxis Decreased nerve conduction velocity Melanocytic nevus Hemophagocytosis Iris hypopigmentation Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Cutaneous photosensitivity Gingivitis Gingival bleeding Albinism Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Lymphadenopathy Sensory axonal neuropathy Cerebral hemorrhage Peripheral axonal neuropathy Amblyopia Decreased CSF albumin Scarring Hyperostosis Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Cachexia Abnormality of the ulna Abnormality of pelvic girdle bone morphology Tinnitus Increased intracranial pressure Vasculitis Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Anorexia Raynaud phenomenon Facial paralysis Limitation of joint mobility Limb pain Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Cranial hyperostosis Slender build Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Lumbar hyperlordosis Delayed eruption of teeth Corneal opacity Decreased body weight Blepharitis Restlessness Muscle fibrillation Anhidrosis Oral-pharyngeal dysphagia Hyperkinesis Sleep apnea Cone/cone-rod dystrophy Postnatal microcephaly Involuntary movements Elevated alpha-fetoprotein Choreoathetosis Increased serum lactate Delayed myelination Recurrent fractures Single transverse palmar crease Short foot Small hand Joint hypermobility Abnormality of eye movement Pain insensitivity Decreased sensory nerve conduction velocity Vertigo Proptosis Genu valgum Delayed puberty Neurological speech impairment Feeding difficulties in infancy Facial palsy Abnormality of the nervous system Pes planus Skeletal dysplasia Mandibular prognathia Glaucoma Corneal ulceration Hypogonadism Kyphosis Abnormal facial shape Decreased CSF/serum albumin ratio Nystagmus Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Neoplasm Abnormal levels of creatine kinase in blood Firm muscles Hyperglycinemia Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Abnormal myelination Decreased serum ferritin Poor fine motor coordination Prolonged prothrombin time Astrocytosis Echolalia Hypomimic face Generalized dystonia Limb dystonia Polycythemia Pica Increased total iron binding capacity Steppage gait Coarse facial features Thick lower lip vermilion Sleep disturbance Hirsutism Thick eyebrow Synophrys Wide mouth Joint stiffness Aggressive behavior Prominent forehead Copper accumulation in liver Behavioral abnormality Diarrhea Short neck Anteverted nares Depressed nasal bridge Low-set ears Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Abnormality of coagulation Toe walking Chronic diarrhea Hepatic fibrosis Tubulointerstitial fibrosis Generalized edema Fetal akinesia sequence Difficulty climbing stairs Myopathic facies Akinesia Reduced tendon reflexes Hydrops fetalis Sensorineural hearing impairment Decreased fetal movement Sudden cardiac death Ascites Hepatic failure Arthrogryposis multiplex congenita Dilated cardiomyopathy Polyhydramnios Talipes equinovarus Limb joint contracture Obesity Emotional lability Pneumonia Dysdiadochokinesis Spastic paraparesis Hyperbilirubinemia Paraparesis Sensorimotor neuropathy Neuronal loss in central nervous system Postural instability Lower limb muscle weakness Hypertonia Diabetes mellitus Increased muscle lipid content Neck muscle weakness Psoriasiform dermatitis Hyperlipidemia Fasciculations Insulin resistance Ichthyosis Distal muscle weakness Hypertrichosis Progressive hearing impairment Abnormal CNS myelination Acidosis Macroglossia Generalized muscle weakness Stroke Conductive hearing impairment Hypoglycemia Osteopenia Gastroesophageal reflux Respiratory failure Abnormality of the cardiovascular system Arrhythmia Abnormality of metabolism/homeostasis Dilatation Respiratory insufficiency Cognitive impairment Exophoria Cerebral white matter atrophy Intellectual disability, borderline Urinary incontinence Cardiomegaly Muscle fiber atrophy Dysphasia Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Dilatation of the cerebral artery Emphysema Type II diabetes mellitus Nasal speech Atrioventricular block Delayed gross motor development Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration EMG abnormality Ventricular hypertrophy Right ventricular dilatation Recurrent ear infections Drooling Cataract Brachycephaly Cerebral atrophy Intrauterine growth retardation Myopia Motor delay Delayed speech and language development Spasticity Cellular metachromasia Hyperkeratosis Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Dysostosis multiplex Growth abnormality Coarse hair Recurrent upper respiratory tract infections Cerebral cortical atrophy Attention deficit hyperactivity disorder Speech apraxia Lower limb spasticity Achalasia Esophagitis Restrictive ventilatory defect Adrenal insufficiency Athetosis Impulsivity CNS hypomyelination Infantile muscular hypotonia Generalized-onset seizure Generalized tonic-clonic seizures Hip dysplasia Focal-onset seizure Chorea Muscle cramps Inability to walk Unsteady gait Poor speech Congenital cataract Elevated aldolase level


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