Cataract, and Hepatosplenomegaly

Diseases related with Cataract and Hepatosplenomegaly

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

Top matches:

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS ), which is associated with heterozygous mutation in the CAV1 gene.

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 Is also known as berardinelli-seip congenital lipodystrophy, type 3|bscl3|lipodystrophy, berardinelli-seip congenital, type 3

Related symptoms:

  • Short stature
  • Cataract
  • Diabetes mellitus
  • Hepatosplenomegaly
  • Congenital cataract


SOURCES: OMIM MESH MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

Other less relevant matches:

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

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match GALACTOSEMIA

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. 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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Hepatosplenomegaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Hepatosplenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Microcephaly Visual impairment Jaundice Failure to thrive Ataxia Short stature Opacification of the corneal stroma Retinal dystrophy Decreased liver function Spasticity Abnormal facial shape Anemia Hyperreflexia Growth delay Hepatic steatosis Splenomegaly

Rare Symptoms - Less than 30% cases

Corneal opacity Renal insufficiency Albuminuria Absent speech Hypertonia Palpebral edema Areflexia Hemolytic anemia Fever Feeding difficulties in infancy Hypergalactosemia Vomiting Low-set ears Osteoporosis Micrognathia Hypoglycemia Abnormality of the liver Metabolic acidosis Abdominal distention Aminoaciduria Muscular hypotonia Impairment of galactose metabolism Galactosuria Renal tubular dysfunction Hypertelorism Polymicrogyria Strabismus Abnormality of eye movement Reduced subcutaneous adipose tissue Hearing impairment Sensorineural hearing impairment Muscle weakness Feeding difficulties Hypercholesterolemia Congenital cataract Ventriculomegaly Hydrocephalus Sepsis Nausea and vomiting Postnatal microcephaly Abnormality of the ovary Speech apraxia Cirrhosis Neoplasm of the liver Pachygyria Hepatic failure Ascites Abnormal bleeding Abnormality of coagulation Anorexia Hypergonadotropic hypogonadism Edema of the lower limbs Lethargy Hypogonadotrophic hypogonadism Shock Failure to thrive in infancy Abnormality of the voice Premature ovarian insufficiency Nephritis Abnormality of the coagulation cascade Tetraparesis Microretrognathia Neurological speech impairment Dysarthria Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Increased CSF protein Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Neoplasm Cognitive impairment Delayed speech and language development Tremor Cerebral visual impairment Petechiae Gait disturbance Edema Diarrhea Behavioral abnormality Lissencephaly Abnormality of metabolism/homeostasis Hypogonadism Weight loss Spastic tetraparesis Purpura Irritability Decreased fertility in females Vitreous hemorrhage Speech articulation difficulties Retinal hemorrhage Optic nerve dysplasia Large fontanelles Poor suck Cubitus valgus Clitoral hypertrophy Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Elevated hepatic transaminase Micropenis Metatarsus adductus Epiphyseal stippling Abnormality of the helix Generalized neonatal hypotonia Macrogyria Round face Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Stippled chondral calcification High palate Anteverted nares Cardiomyopathy Intellectual disability, severe Long philtrum Cerebral cortical atrophy Microphthalmia Cerebellar hypoplasia Pigmentary retinopathy Skin rash Hyperchloremic metabolic acidosis Cryptorchidism Food intolerance Thrombocytopenia Increased level of galactitol in plasma Status epilepticus Increased level of galactitol in red blood cells Increased level of galactitol in urine Increased level of galactonate in red blood cells Intellectual disability, profound Sloping forehead Cerebral calcification Cleft palate Neuronal loss in central nervous system Epicanthus Renal cyst Gliosis Tetraplegia Abnormality of movement Generalized tonic-clonic seizures Intrauterine growth retardation Talipes equinovarus Abnormal heart morphology High forehead Camptodactyly Titubation Flat face Single transverse palmar crease Esodeviation Cerebellar atrophy Decreased light- and dark-adapted electroretinogram amplitude Brachydactyly Ichthyosis Everted lower lip vermilion Aortic regurgitation Scaling skin Ectropion Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Macrocephaly Microtia Macrotia Spastic paraplegia Paraplegia Inability to walk Delayed myelination Hyperbilirubinemia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Muscular dystrophy Alopecia Constipation Intellectual disability, moderate Diabetes mellitus Hirsutism Neurodegeneration Hypertriglyceridemia Insulin resistance Hypocalcemia Acanthosis nigricans Lipodystrophy Generalized lipodystrophy Congenital generalized lipodystrophy Agenesis of corpus callosum Rod-cone dystrophy Abnormality of the eye Myopathy Coloboma Astigmatism Cerebellar vermis hypoplasia Encephalocele Hepatic fibrosis Molar tooth sign on MRI Visual loss Respiratory tract infection Progressive muscle weakness Inverted nipples Central hypotonia Hearing abnormality Ptosis Obesity Severe short stature Motor deterioration Abnormality of the nervous system Hyperuricosuria Galactose intolerance Chronic acidosis Myopia Optic atrophy Hypoplasia of the corpus callosum Dystonia Babinski sign Reduced visual acuity Skeletal dysplasia Coarse facial features Photophobia Developmental regression Hypouricemia Abnormality of the cerebral white matter Retinal degeneration Esotropia Spastic tetraplegia High myopia Progressive neurologic deterioration Amblyopia Aspiration Iron deficiency anemia Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Mild proteinuria Generalized aminoaciduria Acidosis Rickets Osteopenia Proteinuria Hyperlordosis Malabsorption Nephropathy Increased body weight Pancreatitis Hyperlipidemia Hypokalemia Elevated alkaline phosphatase Hypercalciuria Polydipsia Hyperglycemia Microalbuminuria Polyuria Bowing of the legs Hypophosphatemia Glycosuria Osteomalacia Hyperuricemia Renal tubular acidosis Poor appetite Protuberant abdomen Ketosis Ketonuria Hyperphosphaturia Fasting hypoglycemia Congenital microcephaly


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