Cataract, and Cirrhosis

Diseases related with Cataract and Cirrhosis

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


Top matches:

Low match MEDNIK SYNDROME


MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match DORFMAN-CHANARIN DISEASE


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

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Other less relevant matches:

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Low match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Low match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Cirrhosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Visual impairment Osteoporosis Hearing impairment Generalized hypotonia Anemia Microcephaly Failure to thrive Hepatic fibrosis Intrauterine growth retardation Abnormality of the liver Optic atrophy Arrhythmia Short stature Abnormality of the dentition Abnormality of coagulation Jaundice Muscular hypotonia Thrombocytopenia Neoplasm Cardiomyopathy Leukemia Abnormal intestine morphology Alopecia Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Epiphora Dermal atrophy Nyctalopia Diabetes mellitus Pulmonary fibrosis Gastrointestinal hemorrhage Telangiectasia Leukopenia Neoplasm of the liver Cerebral calcification Sepsis Cognitive impairment Ascites Malabsorption Hepatosplenomegaly Bone marrow hypocellularity Pancytopenia Hyperpigmentation of the skin Behavioral abnormality Delayed speech and language development Feeding difficulties Hepatic failure Hypertonia Pulmonary arterial hypertension Urethral stenosis Immunodeficiency Hyperhidrosis Sparse hair Premature loss of teeth Blepharitis Oral leukoplakia Aplastic anemia Ridged nail Nail dystrophy Esotropia Skin ulcer Aplastic/hypoplastic toenail Carious teeth Abnormality of skin pigmentation Postnatal growth retardation Reticular hyperpigmentation Aplasia/Hypoplasia of the skin Strabismus Nail dysplasia Premature graying of hair Ventriculomegaly Testicular atrophy Myelodysplasia Hypergonadotropic hypogonadism Rod-cone dystrophy Dysarthria Epicanthus Arthralgia Tremor Respiratory distress Increased serum ferritin Hypogonadism Spasticity Irritability Depressivity Congenital hepatic fibrosis Cholestasis Vomiting Diarrhea Retinopathy Hemiparesis Ichthyosis Sensorineural hearing impairment Peripheral neuropathy High forehead Generalized hyperpigmentation Hyperkeratosis Upslanted palpebral fissure Anorectal anomaly Nail pits Rough bone trabeculation Interstitial pneumonitis Porokeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Brachydactyly Palmar hyperkeratosis Esophageal stenosis Absent lacrimal punctum Cleft palate Hypertension Abnormality of the skeletal system Ventricular septal defect Talipes equinovarus Restrictive ventilatory defect Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Syndactyly Microphthalmia Dilatation Abnormality of neutrophils Acute myeloid leukemia Myeloid leukemia Generalized hypopigmentation of hair Abnormal leukocyte morphology Telangiectasia of the skin Phimosis Reticulated skin pigmentation Brittle scalp hair Fragile teeth Split nail Aseptic necrosis Skin vesicle Macule Neurofibromas Hypermelanotic macule Pterygium of nails Tracheoesophageal fistula Pancreatic adenocarcinoma Lacrimal duct stenosis Squamous cell carcinoma of the skin Abnormality of the testis Abnormality of the pharynx Cellular immunodeficiency Abnormality of female internal genitalia Hodgkin lymphoma Chromosome breakage Excessive wrinkled skin White hair Keratoconjunctivitis Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Esophageal stricture Abnormal eyelash morphology Abnormality of cardiovascular system morphology Abnormal heart morphology Increased antibody level in blood Esophageal varix Absent hand Decreased fetal movement Sparse scalp hair Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Truncal ataxia Absent fingernail Abnormality of the upper limb Pulmonary artery atresia Horseshoe kidney Hypoplastic fingernail Conjunctivitis Abnormality of the lower limb Arteriovenous malformation Oligohydramnios Venous malformation Double outlet right ventricle Cutis marmorata telangiectatica congenita Hypospadias Cryptorchidism Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cerebral cortical atrophy Decreased testicular size Carcinoma Muscular hypotonia of the trunk Small for gestational age Hypopigmentation of the skin Gliosis Absent toe Abnormal pulmonary valve morphology Calvarial skull defect Pulmonary artery stenosis Patent ductus arteriosus Pulmonic stenosis Premature birth Short distal phalanx of finger Polymicrogyria Cleft upper lip Talipes Squamous cell carcinoma Toe syndactyly Finger syndactyly Tetralogy of Fallot Prominent nasal bridge Abnormal cardiac septum morphology Abnormality of the kidney Flared metaphysis EEG abnormality Osteopenia Hyporeflexia Neonatal respiratory distress Coarctation of aorta Central hypotonia Cutis marmorata Sparse eyelashes Aplasia cutis congenita Cutaneous finger syndactyly Cortical dysplasia Hypoplastic left heart Anosmia Supernumerary nipple Portal hypertension Small nail Abnormality of the metacarpal bones Bicuspid aortic valve Meningitis Aortic valve stenosis Pterygium Pachygyria Encephalocele Split hand Oligodactyly Progressive muscle weakness Hypopigmented skin patches Renal insufficiency Nausea and vomiting Lethargy Neurological speech impairment Feeding difficulties in infancy Hypoglycemia Weight loss Abnormality of metabolism/homeostasis Edema Metabolic acidosis Gait disturbance Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Apathy Hemolytic anemia Abdominal distention Paraparesis Abnormality of the coagulation cascade Retinal hemorrhage Decreased fertility in females Vitreous hemorrhage Abnormality of the ovary Speech apraxia Edema of the lower limbs Renal tubular dysfunction Nephritis Abnormal bleeding Premature ovarian insufficiency Abnormality of the voice Failure to thrive in infancy Shock Aminoaciduria Hypogonadotrophic hypogonadism Decreased liver function Anorexia Spastic paraparesis Bilateral single transverse palmar creases Hyperchloremic metabolic acidosis Abdominal pain Impotence Glucose intolerance Joint dislocation Osteoarthritis Limitation of joint mobility Hepatic steatosis Scarring Fatigue Frontal bossing Pain Decreased serum ceruloplasmin Hypocupremia Intrahepatic cholestasis Congenital sensorineural hearing impairment Erythroderma Erythema Joint swelling Headache Sensorimotor neuropathy Polyneuropathy Intention tremor Status epilepticus Type II diabetes mellitus Pigmentary retinopathy Migraine Sensory impairment Coma Sensory neuropathy Encephalopathy Distal sensory impairment Nausea Peripheral axonal neuropathy Unsteady gait Confusion Mental deterioration Photophobia Gait ataxia Hypergalactosemia Albuminuria Neoplasm of the skin Convex nasal ridge Spinal muscular atrophy Leukodystrophy Rhizomelia Abnormality of epiphysis morphology Nephrolithiasis Large fontanelles Abnormality of the face Renal cyst Constriction of peripheral visual field Congenital cataract Dolichocephaly Respiratory tract infection Facial palsy Neonatal hypotonia Acidosis Absent speech Impulsivity Severe hearing impairment Anteverted nares Recurrent fractures Abnormality of the fingernails Lymphopenia Specific learning disability Abnormal blistering of the skin Lymphoma Hypoplasia of the maxilla Hypodontia Palmoplantar keratoderma Epiphyseal stippling Recurrent respiratory infections Splenomegaly Scoliosis Elevated levels of phytanic acid Very long chain fatty acid accumulation Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Midface retrusion Skeletal muscle atrophy Food intolerance Depressed nasal bridge Pallor Anxiety Elevated hepatic transaminase Skeletal dysplasia Dyspnea Hypothyroidism Fever Muscle weakness Genu valgum Increased level of galactonate in red blood cells Increased level of galactitol in urine Increased level of galactitol in red blood cells Increased level of galactitol in plasma Impairment of galactose metabolism Speech articulation difficulties Galactosuria Delayed puberty Paresthesia Wide nasal bridge Abnormal hemoglobin High palate Low-set ears Abnormal facial shape Nystagmus Malar prominence Monochromacy Hypersplenism Abnormality of the hypothalamus-pituitary axis Neutropenia Cardiorespiratory arrest Abnormality of the skull Hypoparathyroidism Microcytic anemia Adrenal insufficiency Abnormality of the thorax Cholelithiasis Venous thrombosis Anal mucosal leukoplakia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Long face, related diseases and genetic alterations Myopia and Smooth philtrum, related diseases and genetic alterations Low-set ears and Growth hormone deficiency, related diseases and genetic alterations Strabismus and Genu valgum, related diseases and genetic alterations Hypertension and Coronary artery atherosclerosis, related diseases and genetic alterations

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