Hepatomegaly, and Arthrogryposis multiplex congenita

Diseases related with Hepatomegaly and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Arthrogryposis multiplex congenita 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

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

High match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Other less relevant matches:

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

High match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

High match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-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

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18

Top 5 symptoms//phenotypes associated to Hepatomegaly and Arthrogryposis multiplex congenita

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

Other less frequent symptoms

Patients with Hepatomegaly and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cerebral cortical atrophy Muscular hypotonia Intellectual disability Hearing impairment Neonatal hypotonia Muscle weakness Congestive heart failure Hyporeflexia Feeding difficulties Hepatosplenomegaly Cerebral atrophy Ataxia Hypertension Spasticity Peripheral neuropathy Anemia Short stature Areflexia Flexion contracture Fever Arrhythmia Cardiomyopathy Short neck Intellectual disability, severe Myopathy Growth delay Skeletal muscle atrophy Myoclonus Abnormality of the liver

Rare Symptoms - Less than 30% cases

Hypohidrosis Nystagmus Respiratory failure Tetraplegia Cerebellar atrophy Motor delay Scoliosis Clinodactyly of the 5th finger Adducted thumb Inverted nipples Abnormal bleeding Abnormality of the foot Muscular hypotonia of the trunk Micrognathia Sensorineural hearing impairment Behavioral abnormality Cholestasis Visual impairment Hypoventilation Abnormal facial shape Abnormal pyramidal sign Cirrhosis Delayed myelination Portal hypertension Decreased liver function Thrombocytopenia Recurrent infections Decreased fetal movement Diarrhea Limb muscle weakness Hepatic steatosis CNS hypomyelination Muscular dystrophy Hyperlordosis Proximal muscle weakness Polyhydramnios Edema Talipes equinovarus Elevated hepatic transaminase Waddling gait Cryptorchidism Hyperhidrosis Joint stiffness Macrotia Hypoplasia of the corpus callosum Splenomegaly Pancytopenia Chronic diarrhea Distal arthrogryposis Lymphopenia Microvesicular hepatic steatosis Hyperbilirubinemia Protruding tongue Abnormal intestine morphology Tongue fasciculations Inflammation of the large intestine Loss of consciousness Abnormality of immune system physiology Focal-onset seizure Combined immunodeficiency Neurodevelopmental delay Abnormal cortical gyration Proximal tubulopathy Impaired T cell function Micronodular cirrhosis Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Type II transferrin isoform profile Hip dysplasia Polydactyly Decreased antibody level in blood Ventriculomegaly Thick vermilion border Flat face Abnormality of the pinna Hypertrophic cardiomyopathy Proteinuria Polyneuropathy Immunodeficiency Vomiting Jaundice Abnormal heart morphology Retrognathia Premature skin wrinkling Intrauterine growth retardation Dehydration Epicanthus Abnormality of the skeletal system Aggressive behavior Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Abnormal cardiac septum morphology Malabsorption Hyperkeratosis Postaxial polydactyly Decreased nerve conduction velocity Wide nasal bridge Hypoplasia of the cochlea Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Meconium ileus Brachydactyly Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow Spasmus nutans Blindness Alacrima Gingival overgrowth Increased nuchal translucency Long nose Multiple joint contractures Deep philtrum Finger clinodactyly Cerebral visual impairment Single transverse palmar crease Hernia Highly arched eyebrow Short distal phalanx of finger Pectus carinatum Coarse facial features Inguinal hernia Clinodactyly White eyelashes Intestinal pseudo-obstruction Myopia Prominent nasal bridge Peripheral demyelination Underdeveloped nasal alae Coma Hypopigmentation of the skin Distal sensory impairment Distal amyotrophy Distal muscle weakness Aganglionic megacolon Telecanthus Abnormality of the nervous system Abdominal pain Hypogonadism Pes cavus Constipation Spastic tetraplegia Leukodystrophy Ileus Hypopigmentation of hair White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Congenital nystagmus Abnormal autonomic nervous system physiology Premature graying of hair Intestinal obstruction Increased CSF lactate Anosmia Hypopigmented skin patches Torticollis Spastic paraparesis Breech presentation Stereotypy Renal tubular acidosis Stroke-like episode Elevated erythrocyte sedimentation rate Microcytic anemia Lipoatrophy Episodic fever Clubbing of fingers Erythema nodosum Clubbing of toes Abnormality of the Leydig cells Cognitive impairment Hyperreflexia Reduced visual acuity Abnormality of the coagulation cascade Mild short stature Abnormality of coagulation Abnormal thrombosis Right bundle branch block Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of the posterior cranial fossa Abnormal isoelectric focusing of serum transferrin Bilateral basal ganglia lesions High palate Pneumonia Rigidity Facial palsy Apnea Cough Abnormality of the cerebral white matter Generalized muscle weakness Ventricular hypertrophy Increased antibody level in blood Hyperostosis Elbow flexion contracture Exertional dyspnea Dyspnea Difficulty walking Dilated cardiomyopathy Hepatic failure Ascites Sudden cardiac death Hydrops fetalis Hepatic fibrosis Exercise intolerance Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Fetal akinesia sequence Lipodystrophy Lymphadenopathy Subcutaneous nodule Abnormality of the face Thick lower lip vermilion Cardiomegaly Prominent nose Macroglossia Arachnodactyly Esophageal varix Skin rash Arthralgia Intellectual disability, mild Limb joint contracture Tubulointerstitial fibrosis Generalized edema Progressive muscle weakness Poor head control Hyperkalemia Absent speech Abnormality of movement Apraxia Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Hemiplegia/hemiparesis Decreased muscle mass Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Thin fingernail Renal insufficiency Encephalopathy EEG abnormality Acidosis Lethargy Lactic acidosis Renal cyst Increased serum lactate Epileptic encephalopathy Renal hypoplasia Pachygyria Renal dysplasia Fasciculations Severe muscular hypotonia Chronic kidney disease Failure to thrive in infancy Hyponatremia Developmental regression Autism Nasal speech Axial muscle weakness Gowers sign Congenital muscular dystrophy Increased variability in muscle fiber diameter High pitched voice Generalized amyotrophy Spinal rigidity Hip contracture Neck muscle weakness Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Respiratory arrest Depressivity Limited neck flexion Dystonia Abnormality of the dentition Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Hamstring contractures Reduced vital capacity Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Short fourth metatarsal


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