Cataract, and Constipation

Diseases related with Cataract and Constipation

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

Top matches:

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

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

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Other less relevant matches:

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

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

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

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Top 5 symptoms//phenotypes associated to Cataract and Constipation

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intellectual disability Proteinuria Growth delay Sensorineural hearing impairment Scoliosis Cardiomyopathy Nephropathy Flexion contracture Agenesis of corpus callosum Seizures Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases

Microcephaly Congestive heart failure Arrhythmia Myopathy Facial asymmetry Muscle weakness Hypoglycemia Vomiting Myalgia Hypertrophic cardiomyopathy Hyperglycemia Bundle branch block Dyspnea Abnormality of the anus Microphthalmia Vertigo Coloboma Microcornea Osteoporosis Chronic constipation Malabsorption Esophageal stricture Osteopenia Squamous cell carcinoma of the skin Renal insufficiency Narrow mouth Nail dystrophy Abnormal blistering of the skin Anemia Ankyloglossia Carcinoma Milia Atrophic scars Generalized hypotonia Ataxia Toe syndactyly Visual impairment Peripheral neuropathy Dysarthria Optic atrophy Hemimegalencephaly Horizontal nystagmus Corneal erosion Congenital cataract Syndactyly Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Abnormality of lipid metabolism Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Pruritus Left bundle branch block Scarring Alopecia Visual loss Neoplasm Abnormal chorioretinal morphology Ophthalmoplegia Aplasia/Hypoplasia of the cerebellum Preaxial polydactyly Foot polydactyly Anal stenosis Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Basal cell carcinoma Preaxial hand polydactyly Bilateral ptosis Optic nerve coloboma Hypopigmented skin patches Narrow palpebral fissure Generalized hirsutism Broad thumb Abnormality of the skin Intestinal malrotation Iris coloboma Arnold-Chiari type I malformation Medulloblastoma Constriction of peripheral visual field Unsteady gait Ragged-red muscle fibers External ophthalmoplegia Pancytopenia Type II diabetes mellitus Bilateral sensorineural hearing impairment Pigmentary retinopathy Retinal degeneration Retinopathy Anterior plagiocephaly Abnormality of the kidney Delayed puberty Diabetes mellitus Hypertension Abnormality of thumb phalanx Duplication of thumb phalanx Cutaneous syndactyly of toes Carious teeth Corneal scarring Nail dysplasia Respiratory insufficiency due to muscle weakness Right bundle branch block Increased variability in muscle fiber diameter Tricuspid regurgitation Akinesia Limb-girdle muscular dystrophy Atrioventricular block EMG: myopathic abnormalities Ventricular tachycardia Difficulty climbing stairs Scapular winging Elbow flexion contracture Muscle stiffness Progressive muscle weakness Palpitations Atrial fibrillation Myocardial infarction Ventricular hypertrophy Mildly elevated creatine phosphokinase Hypokinesia Chest pain Myofibrillar myopathy Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Intestinal pseudo-obstruction Right ventricular cardiomyopathy Hyporeflexia of lower limbs Skeletal myopathy Restrictive cardiomyopathy Bulbar palsy Atrial flutter Ventricular extrasystoles Progressive proximal muscle weakness Heart block Neck muscle weakness Centrally nucleated skeletal muscle fibers Rimmed vacuoles Spinal rigidity Syncope Sudden cardiac death Progressive visual loss Skin vesicle Loss of eyelashes Refractory anemia Absent fingernail Absent toenail Scarring alopecia of scalp Atypical scarring of skin Blepharitis Fragile skin Malnutrition Mitten deformity Squamous cell carcinoma Ectropion Hypoalbuminemia Dermal atrophy Neoplasm of the skin Conjunctivitis Joint contracture of the hand Hypoplasia of dental enamel Esophageal stenosis Spontaneous esophageal perforation Generalized muscle weakness Proximal muscle weakness Tachycardia Paresthesia Lower limb muscle weakness Limb muscle weakness Muscular dystrophy Distal muscle weakness Joint stiffness Facial palsy Respiratory failure Pain Pneumonia Elevated serum creatine phosphokinase Dilatation Diarrhea Respiratory distress Respiratory insufficiency Gait disturbance Delayed speech and language development Hirsutism Protuberant abdomen Polymicrogyria Exotropia Median cleft lip and palate Adrenal hypoplasia Submucous cleft hard palate Narrow nasal bridge Diabetes insipidus Holoprosencephaly Hypotelorism Cyclopia Bifid uvula Astigmatism Cleft lip Cerebellar hypoplasia Midface retrusion Malar flattening Short nose Single median maxillary incisor Single ventricle Macrocephaly Overgrowth Lipoatrophy Partial agenesis of the corpus callosum Renal hypoplasia/aplasia Sandal gap Insulin resistance Generalized-onset seizure Renal agenesis Proboscis Nevus Splenomegaly Abnormality of the skeletal system Anterior pituitary agenesis Aplasia of the nose Absent nasal septal cartilage Hypoplastic philtrum Anteverted nares Low-set ears Lower limb asymmetry Thickening of the glomerular basement membrane Tracheobronchial leiomyomatosis Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation High-frequency sensorineural hearing impairment Lenticonus Macroscopic hematuria Cognitive impairment Microscopic hematuria Wheezing Skeletal muscle hypertrophy Asthma Hematuria Stage 5 chronic kidney disease Cough Spasticity Neonatal hypotonia Cleft palate Spastic paraparesis Muscular hypotonia Abnormal facial shape Strabismus Very long chain fatty acid accumulation Corpus callosum atrophy Cerebellar vermis atrophy Leukodystrophy Abnormality of the cerebral white matter Decreased liver function Lower limb spasticity Frequent falls Sensory neuropathy Retinal dystrophy Falls Dysmetria Lipoma Hemihypertrophy Finger syndactyly Osteomalacia Ketonuria Renal tubular dysfunction Ketosis Poor appetite Renal tubular acidosis Hyperuricemia Glycosuria Fasting hypoglycemia Reduced subcutaneous adipose tissue Hypophosphatemia Bowing of the legs Polyuria Rickets Polydipsia Hypercalciuria Hyperphosphaturia Microalbuminuria Hypokalemia Chronic acidosis Blepharophimosis Craniosynostosis Polydactyly Brachycephaly Ventriculomegaly Hypertelorism Galactose intolerance Generalized aminoaciduria Impairment of galactose metabolism Hyperuricosuria Galactosuria Albuminuria Mild proteinuria Hypergalactosemia Hypouricemia Elevated alkaline phosphatase Hypercholesterolemia Tethered cord Epididymal cyst Microglossia Keratitis Recurrent skin infections Pelvic mass Enlarged peripheral nerve Splayed toes Encephalomalacia Abnormal vagina morphology Macrodactyly Epidermal nevus Cranial asymmetry Capillary malformation Venous malformation Cranial hyperostosis Spinal dysraphism Stenosis of the external auditory canal Skin erosion Hyperlipidemia Hyperlordosis Pancreatitis Aminoaciduria Increased body weight Abdominal distention Metabolic acidosis Hepatic steatosis Hepatosplenomegaly Tongue atrophy Acidosis Severe short stature Obesity Fever Hepatomegaly Short stature Oral mucosal blisters Restrictive heart failure


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