Cataract, and Cyanosis

Diseases related with Cataract and Cyanosis

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

Top matches:

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

GALACTOKINASE DEFICIENCY Is also known as galactosemia type 2|galk deficiency|galactokinase deficiency galactosemia|galk-d|galactosemia ii

Related symptoms:

  • Intellectual disability
  • Cataract
  • Hypogonadism
  • Hypergonadotropic hypogonadism
  • Hyperbilirubinemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOKINASE DEFICIENCY

Other less relevant matches:

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

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

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

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

Top 5 symptoms//phenotypes associated to Cataract and Cyanosis

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Growth delay Failure to thrive Macrocephaly Macrotia Nystagmus Feeding difficulties Muscular hypotonia Splenomegaly Impairment of galactose metabolism Ataxia Microcephaly Scoliosis Short stature Hearing impairment Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Aciduria Coxa valga Kyphosis Hypertonia Congestive heart failure Intellectual disability, severe Spastic paraplegia Cardiomyopathy High forehead Aminoaciduria Hyperreflexia Low-set ears Skeletal muscle atrophy Hydrocephalus Nausea and vomiting Weight loss High palate Generalized neonatal hypotonia Acrocyanosis Epiphyseal stippling Abnormality of the skeletal system Gait disturbance Brachydactyly Limitation of joint mobility Sepsis Abnormal facial shape Delayed eruption of teeth Vomiting Hypergalactosemia Prolonged neonatal jaundice Dilated cardiomyopathy Hyperbilirubinemia Hypergonadotropic hypogonadism Hepatosplenomegaly Hypogonadism Severe global developmental delay Hypodontia Frontal bossing Osteoporosis Feeding difficulties in infancy Infertility Flexion contracture Pain Neoplasm Decreased body weight Hypertelorism Galactosuria Premature ovarian insufficiency Lipodystrophy Intracranial hemorrhage Nasal speech Dermal atrophy Hyperinsulinemia Absent eyelashes Exertional dyspnea Abnormal EKG Thin ribs Prolonged QT interval Scleroderma Premature graying of hair High pitched voice Multiple joint contractures Heart murmur Keratoconjunctivitis sicca Thrombocytosis Hypoplastic nipples Renal cell carcinoma Short clavicles Alopecia of scalp Lipoatrophy Metaphyseal widening Abnormality of the thorax Left ventricular hypertrophy Relative macrocephaly Microtia Chest pain Hepatic steatosis Thin vermilion border Delayed puberty Narrow chest Carious teeth Hypotrichosis Hypermetropia Hip dislocation Stroke Nail dysplasia Sparse hair Joint stiffness Hypertrophic cardiomyopathy Carcinoma Conductive hearing impairment Osteopenia Dyspnea Proptosis Narrow mouth Growth hormone deficiency Convex nasal ridge Hypercholesterolemia Insulin resistance Acanthosis nigricans Hyperlipidemia Atherosclerosis Osteolysis Hypogonadotrophic hypogonadism Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Hypohidrosis Dental crowding Fragile nails Broad-based gait Thin skin Osteoarthritis Hypertriglyceridemia Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Transient ischemic attack Decreased testosterone in males Down-sloping shoulders Tremor Decreased fertility in females Abnormality of the ovary Speech apraxia Abnormal bleeding Hepatic failure Abnormality of movement Lethargy Hypoglycemia Dysarthria Talipes equinovarus Neurogenic bladder Inverted nipples Spastic paraparesis Nephrocalcinosis Paraparesis Muscular hypotonia of the trunk Delayed gross motor development Delayed speech and language development Speech articulation difficulties Long philtrum Ventricular septal defect Inability to walk Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Broad neck Hyperkalemia Delayed myelination Hemolytic anemia Paraplegia Talipes Absent speech Anemia Spasticity Cardiorespiratory arrest Bilateral talipes equinovarus Flat occiput Severe muscular hypotonia Polymicrogyria Flat face Glossoptosis Tapering pointed ends of distal finger phalanges Hyperphosphatemia Enlarged joints Hip pain Aplastic clavicle Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Precocious atherosclerosis Thin nail Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Absence of subcutaneous fat Premature coronary artery atherosclerosis Arteriosclerosis of small cerebral arteries Old-aged sensorineural hearing impairment Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Reticulated skin pigmentation Dementia Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Prominent forehead Abnormal tricuspid valve morphology Alopecia Recurrent aphthous stomatitis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Peritonitis Pharyngitis Large forehead Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Serositis Strabismus Elevated erythrocyte sedimentation rate Intellectual disability, mild Pes planus Coarse facial features Kyphoscoliosis Mandibular prognathia Cerebral cortical atrophy Delayed skeletal maturation Inguinal hernia Pectus excavatum Hypoplasia of the corpus callosum Muscle weakness Anteverted nares Ventriculomegaly Downslanted palpebral fissures Optic atrophy Peripheral neuropathy Epicanthus Depressed nasal bridge Cognitive impairment Colitis Hypermelanotic macule Mental deterioration Rod-cone dystrophy Erythema Pallor Postnatal growth retardation Arthritis Myalgia Arthralgia Abdominal pain Hyperhidrosis Pneumonia Skin rash Constipation Depressivity Headache Renal insufficiency Diarrhea Blindness Fatigue Fever Nyctalopia Cough Leukocytosis Nephrotic syndrome Intestinal obstruction Apathy Urticaria Purpura Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Optic disc pallor Papule Eczema Dehydration Gastrointestinal hemorrhage Migraine Abdominal distention Retinal dystrophy Nausea Lymphadenopathy Vertigo Telecanthus Hyperlordosis Midface retrusion Restrictive cardiomyopathy Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Hypoplastic fingernail Abnormal diaphysis morphology Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Atonic seizures Thickened calvaria Broad palm Abnormality of digit Premature loss of primary teeth Thick nasal alae Broad hallux Abnormality of the nasal alae Malar flattening Short nose Abnormality of the dentition Hypertension Micrognathia Presenile cataracts Increased intracranial pressure Drumstick terminal phalanges Thick nasal septum Narrow iliac wings Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Broad finger Progressive spasticity Loss of consciousness Protruding ear Everted lower lip vermilion Psychosis Dental malocclusion Short metacarpal Tetraplegia Hypoplasia of the maxilla Single transverse palmar crease Tapered finger Highly arched eyebrow Thick vermilion border Thick lower lip vermilion Wide nose Short distal phalanx of finger Thick eyebrow Joint hypermobility Joint hyperflexibility Neurological speech impairment Pectus carinatum Wide mouth Cerebellar vermis hypoplasia Open mouth Emphysema Coarse hair Abnormality of neuronal migration Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Prominent supraorbital ridges Redundant skin Schizophrenia Abnormal form of the vertebral bodies Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutis laxa Narrow palate Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Mitral regurgitation Hypoglycorrhachia


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