Cataract, and Hepatic failure

Diseases related with Cataract and Hepatic failure

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


Top matches:

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low match PEROXISOME BIOGENESIS DISORDER 11B; PBD11B


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

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Other less relevant matches:

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


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 PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Low 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

Low match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Low match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


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 PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low 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

Top 5 symptoms//phenotypes associated to Cataract and Hepatic failure

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Decreased liver function Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Hearing impairment Intellectual disability Retinal dystrophy Muscular hypotonia Ataxia Dysarthria Feeding difficulties Osteoporosis Frontal bossing Abnormal facial shape Hypertelorism Cognitive impairment Growth delay Abnormal bleeding Nystagmus Hepatomegaly

Rare Symptoms - Less than 30% cases


Single transverse palmar crease Short stature Muscle weakness Tremor Very long chain fatty acid accumulation Hepatosplenomegaly Gait disturbance Nausea and vomiting Seizures Strabismus Abnormality of movement Peripheral neuropathy Skeletal muscle atrophy Dysphagia Wide nasal bridge Hyporeflexia Optic atrophy Abnormality of the liver Abnormality of metabolism/homeostasis Ptosis Metabolic acidosis Bulbous nose Neoplasm Lethargy Sepsis Speech apraxia Abnormality of the ovary Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Hypoglycemia Jaundice Microcephaly Weight loss High palate Diarrhea Epicanthus Vomiting Long philtrum High forehead Ascites Anteverted nares Severe global developmental delay Esotropia Primary adrenal insufficiency Adrenal insufficiency High, narrow palate Dolichocephaly Abnormality of retinal pigmentation Wide anterior fontanel Developmental regression Bilateral single transverse palmar creases Abnormal palate morphology Abnormality of neuronal migration Tachypnea Low-set, posteriorly rotated ears Elevated long chain fatty acids Abnormal cardiac septum morphology Pulmonary hypoplasia Decreased fetal movement Cholestasis Large fontanelles Lymphedema Abnormal intestine morphology Hypoalbuminemia EEG abnormality Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Low-set ears Hyperreflexia Macrocephaly Polar cataract Anorexia Malar flattening Neoplasm of the liver Shock Failure to thrive in infancy Abnormality of the voice Premature ovarian insufficiency Nephritis Abnormality of the coagulation cascade Abnormality of coagulation Renal tubular dysfunction Edema of the lower limbs Vitreous hemorrhage Hypogonadotrophic hypogonadism Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Albuminuria Food intolerance Galactosuria Increased level of galactitol in plasma Increased level of galactitol in red blood cells Increased level of galactitol in urine Aminoaciduria Hypergonadotropic hypogonadism Areflexia Delayed speech and language development Rod-cone dystrophy Dry skin Flat face Polyneuropathy Depressed nasal ridge Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Edema Dyspnea Behavioral abnormality Renal insufficiency Hypogonadism Feeding difficulties in infancy Irritability Neurological speech impairment Cirrhosis Hemolytic anemia Abdominal distention Camptodactyly Thoracic kyphoscoliosis Hypothyroidism Increased serum lactate Myopathy Elevated serum creatine phosphokinase Cerebral cortical atrophy Proximal muscle weakness Distal muscle weakness Ophthalmoplegia Limb muscle weakness Peripheral axonal neuropathy Peripheral demyelination Central hypotonia Fasciculations External ophthalmoplegia Ragged-red muscle fibers Dysphonia Decreased nerve conduction velocity Rhabdomyolysis Mitochondrial myopathy Progressive external ophthalmoplegia Hearing abnormality Inverted nipples Pain Lactic acidosis Depressed nasal bridge Downslanted palpebral fissures Hypoplasia of the corpus callosum Dystonia Short nose Microphthalmia Acidosis Sparse hair Delayed myelination Progressive muscle weakness Underdeveloped nasal alae Aciduria Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb Visual loss Respiratory tract infection Micrognathia Flexion contracture Patent ductus arteriosus Cerebellar vermis atrophy Abnormality of the cerebral white matter Dysmetria Falls Sensory neuropathy Frequent falls Lower limb spasticity Leukodystrophy Spastic paraparesis Corpus callosum atrophy Constipation Cryptorchidism Anemia Brachydactyly Intrauterine growth retardation Ventricular septal defect Talipes equinovarus Short neck Thrombocytopenia Neonatal hypotonia Spasticity Kyphosis Prominent nasal bridge Pectus excavatum Clinodactyly Delayed skeletal maturation Abdominal pain Kyphoscoliosis Pes planus Deeply set eye Carcinoma Triangular face Fulminant hepatic failure Decreased body weight Elbow flexion contracture Lipodystrophy Premature graying of hair Subcapsular cataract Hepatocellular carcinoma Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Increased level of galactonate in red blood cells



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Renal hypoplasia, related diseases and genetic alterations Edema and Wide nasal bridge, related diseases and genetic alterations High palate and High myopia, related diseases and genetic alterations Low-set ears and Gait disturbance, related diseases and genetic alterations Ptosis and Low-set ears, related diseases and genetic alterations Spasticity and Gynecomastia, related diseases and genetic alterations Short stature and Cleft palate, related diseases and genetic alterations

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