Cataract, and Splenomegaly

Diseases related with Cataract and Splenomegaly

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

Top matches:

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

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

Low match CLOVES SYNDROME

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Other less relevant matches:

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE SYNDROME

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

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

Top 5 symptoms//phenotypes associated to Cataract and Splenomegaly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy Global developmental delay Anemia Ataxia Short stature Jaundice Macrocephaly Sensorineural hearing impairment Muscular hypotonia

Rare Symptoms - Less than 30% cases

Vomiting Nail dysplasia Epidermal nevus Xerostomia Ptosis Skeletal muscle atrophy Visual impairment Weight loss Generalized hypotonia Hepatosplenomegaly Skin rash Mandibular prognathia Muscle weakness Hydrocephalus Hypertelorism Scoliosis Failure to thrive Intellectual disability, severe Nail dystrophy Lower limb asymmetry Aminoaciduria Progressive visual loss Alopecia Ichthyosis Hyperkeratosis Hyperpigmentation of the skin Frontal bossing Dry skin Heart block Fever Visual loss Aortic aneurysm Hypertension Miosis Abnormality of the liver Glaucoma Dyspnea Arthralgia Photophobia Facial palsy Erythema Camptodactyly of finger Papule Hammertoe Lymphadenopathy Stage 5 chronic kidney disease Nephropathy Limitation of joint mobility Pulmonary arterial hypertension Skin ulcer Hemiplegia/hemiparesis Abnormality of the eye Abnormality of vision Subungual hyperkeratosis Otitis media Eczema Cutaneous photosensitivity Recurrent otitis media Recurrent pneumonia Conjunctivitis Myelodysplasia Increased antibody level in blood Atrophic scars Wheezing Blepharitis Osteosarcoma Poikiloderma Peripheral neuropathy Anosmia Respiratory insufficiency Cardiomyopathy Renal insufficiency Microphthalmia Abnormality of metabolism/homeostasis Pes cavus Developmental regression Nyctalopia Abnormal pyramidal sign Abnormality of eye movement Abnormality of the foot Short metacarpal Abnormality of epiphysis morphology Abnormality of retinal pigmentation Keratitis Abnormal choroid morphology Pericarditis Areflexia Flat face Polymicrogyria Feeding difficulties in infancy Camptodactyly High forehead Abnormal heart morphology Talipes equinovarus Renal cyst Intrauterine growth retardation Epicanthus Low-set ears Cryptorchidism Cleft palate Micrognathia Single transverse palmar crease Round face Increased urinary O-linked sialopeptides Abnormality of the helix Intrahepatic biliary dysgenesis Brushfield spots Renal cortical microcysts Macrogyria Optic nerve dysplasia Generalized neonatal hypotonia Epiphyseal stippling Pigmentary retinopathy Palpebral edema Metatarsus adductus Clitoral hypertrophy Cubitus valgus Poor suck Opacification of the corneal stroma Large fontanelles Urinary excretion of sialylated oligosaccharides Cherry red spot of the macula Joint swelling Abnormal salivary gland morphology Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Polyarticular arthritis Palmoplantar keratoderma Iridocyclitis Tremor Posterior uveitis Erythema nodosum Synovitis Abnormality of the retinal vasculature Abnormality of the optic nerve Abnormal cranial nerve morphology Wide nasal bridge Gait disturbance Vascular skin abnormality Abnormality of movement Dysostosis multiplex Short thorax Decreased nerve conduction velocity Slurred speech Abnormal form of the vertebral bodies Thick lower lip vermilion Neurological speech impairment Kyphosis Corneal opacity Pectus carinatum EEG abnormality Coarse facial features Myoclonus Delayed skeletal maturation Hernia Asthma Abnormality of the parathyroid gland Neutropenia Spinal dysraphism Facial asymmetry Nevus Renal agenesis Overgrowth Generalized-onset seizure Insulin resistance Horizontal nystagmus Sandal gap Renal hypoplasia/aplasia Partial agenesis of the corpus callosum Lipoatrophy Lipoma Hemihypertrophy Tethered cord Cranial hyperostosis Hypoglycemia Venous malformation Capillary malformation Cranial asymmetry Hemimegalencephaly Macrodactyly Encephalomalacia Epididymal cyst Splayed toes Enlarged peripheral nerve Pelvic mass Neoplasm Pain Fatigue Edema Congenital cataract Agenesis of corpus callosum Abdominal pain Hypertonia Hearing impairment Growth delay Feeding difficulties Delayed speech and language development Nausea and vomiting Aciduria Delayed gross motor development Hypergalactosemia Galactosuria Impairment of galactose metabolism Microcephaly Spasticity Hyperreflexia Brachydactyly Absent speech Constipation Broad neck Abnormality of the skeletal system Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Hyperkalemia Macrotia Hyperbilirubinemia Delayed myelination Hemolytic anemia Inability to walk Paraplegia Spastic paraplegia Diarrhea Autoimmunity Carious teeth Venous insufficiency Downslanted palpebral fissures Anteverted nares Dolichocephaly Retinal detachment Hemangioma Polycystic ovaries Hyperostosis Open bite Irregular hyperpigmentation Exostoses Genu recurvatum Heterochromia iridis Communicating hydrocephalus Abnormal pupil morphology Epibulbar dermoid Decreased taste sensation Subcutaneous lipoma Shagreen patch Thymus hyperplasia Bronchogenic cyst Abnormal facial shape Depressed nasal bridge Short nose Malar flattening Midface retrusion Pneumonia Recurrent respiratory infections Respiratory failure Respiratory tract infection Cough Myopia Gastrointestinal carcinoma Malabsorption Colon cancer Paresthesia Abnormality of skin pigmentation Tapered finger Anorexia Lymphedema Hypocalcemia Abnormality of the fingernails Abnormal intestine morphology Cachexia Hypokalemia Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Sparse body hair Glossitis Dystrophic fingernails Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Furrowed tongue Generalized hyperpigmentation Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Abnormality of the vasculature Thromboembolism Stippled chondral calcification


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