Cataract, and Ulcerative colitis

Diseases related with Cataract and Ulcerative colitis

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


Top matches:

Medium match AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION


Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Medium match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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Other less relevant matches:

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match HERMANSKY-PUDLAK SYNDROME 5; HPS5


Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

Low match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Low match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


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

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Top 5 symptoms//phenotypes associated to Cataract and Ulcerative colitis

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Enterocolitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Seizures Global developmental delay Blindness Nystagmus Neoplasm Visual loss Failure to thrive Generalized hypotonia Inflammation of the large intestine Frontal bossing Micrognathia Abnormal lung morphology Erythema Pneumonia Hearing impairment Growth delay Visual impairment Scoliosis Inguinal hernia Papule Hypertelorism

Rare Symptoms - Less than 30% cases


Pectus excavatum Hernia Retrognathia Polydactyly Reduced visual acuity Abnormality of the skeletal system Microphthalmia Low-set ears Abnormality of the dentition Hydrocephalus Immunodeficiency Macrocephaly Brachydactyly Dysarthria Epicanthus Cryptorchidism Optic atrophy Pain Diarrhea Hypotrichosis Cleft lip High palate Scarring Cough Aspiration Osteopenia Polyhydramnios Dilatation Hepatomegaly Abdominal distention Clinodactyly Vomiting Abnormality of skin pigmentation Depressed nasal bridge Flexion contracture Sparse hair Vertebral fusion Spina bifida occulta Split hand Amyloidosis Short ribs Spina bifida Hyperpigmentation of the skin Iris coloboma Respiratory tract infection Cleft upper lip Hyperhidrosis Coloboma Recurrent pneumonia Syndactyly Cleft palate Ataxia Pulmonary fibrosis Albinism Melanocytic nevus Abnormality of dental enamel Long eyelashes Epistaxis Gastrointestinal hemorrhage Nevus Hypopigmentation of the skin Prolonged bleeding time Neutropenia Bruising susceptibility Photophobia Weight loss Hyperkeratosis Renal insufficiency Fatigue Arthralgia Recurrent infections Basal cell carcinoma Abnormal bleeding Ocular albinism Hypermelanotic macule Bladder neoplasm Menorrhagia Clitoral hypoplasia Developmental regression Muscular hypotonia of the trunk Absent toenail Deeply set eye Rough bone trabeculation Elevated serum creatine phosphokinase Hyperactivity Congenital cataract Abnormality of the middle ear Midclavicular aplasia Midclavicular hypoplasia Short neck Giant cell tumor of bone Anteverted nares Foot oligodactyly Wide mouth Poor speech Feeding difficulties Abnormal cornea morphology Thrombocytopenia Horizontal nystagmus 2-3 toe syndactyly Elevated alkaline phosphatase Disproportionate short-limb short stature Ureteral duplication Knee flexion contracture Hand oligodactyly Elbow flexion contracture Bulbous nose Abnormality of hair texture Total anomalous pulmonary venous return Cerebral visual impairment Narrow forehead Papilloma Inspiratory stridor Limb undergrowth Hip dysplasia Delayed speech and language development Absent fingernail Hypoplasia of the fovea Abnormal palmar dermatoglyphics Patchy alopecia Abnormal adipose tissue morphology Absence of the sacrum Recurrent respiratory infections Ridged fingernail Caudal appendage Abnormality of the pulmonary vasculature Abnormality of the mediastinum Bronchiectasis Abnormality of metabolism/homeostasis Nonproductive cough Dystonia Abnormality of the gastrointestinal tract Gait disturbance White hair Osteopathia striata Cleft ala nasi Chronic diarrhea Hypohidrosis Foam cells Apocrine hidrocystoma Reticular hyperpigmentation Generalized reticulate brown pigmentation Cutaneous amyloidosis Recurrent infection of the gastrointestinal tract Urethral stricture Broad eyebrow Corneal scarring Focal dystonia Cholesteatoma Bifid ureter Linear hyperpigmentation Keratitis Ectopia cordis Hemiplegia Upper limb asymmetry Failure to thrive in infancy Corneal dystrophy Opacification of the corneal stroma Long palpebral fissure Progressive visual loss Hip contracture Skin rash Eczema Dehydration Aciduria Migraine Limitation of joint mobility Sepsis Retinal dystrophy Nausea Lymphadenopathy Vertigo Infertility Nyctalopia Nephrotic syndrome Pallor Postnatal growth retardation Arthritis Myalgia Hepatosplenomegaly Rod-cone dystrophy Constipation Depressivity Headache Splenomegaly Fever Generalized cerebral atrophy/hypoplasia Optic disc pallor Vasculitis Fetal ascites Large forehead Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Acrocyanosis Conjunctivitis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Elevated erythrocyte sedimentation rate Leukocytosis Intestinal obstruction Apathy Urticaria Purpura Calcific stippling Renal cortical microcysts Large earlobe Long philtrum Abnormality of the cerebral white matter Dolichocephaly Severe global developmental delay Abnormality of the liver Feeding difficulties in infancy Elevated hepatic transaminase Neonatal hypotonia High forehead Upslanted palpebral fissure Delayed skeletal maturation Hypospadias Congestive heart failure Polymicrogyria Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Talipes equinovarus Skeletal muscle atrophy Abnormal facial shape EEG with multifocal slow activity Echogenic fetal bowel Shortening of all distal phalanges of the fingers Prominent nasal tip Thickened helices Chronic lung disease Talipes Hepatic steatosis Chylous ascites Delayed cranial suture closure Cerebral hypoplasia Cerebral dysmyelination Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Decreased muscle mass Renal cyst Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Progressive hearing impairment Large fontanelles Pachygyria Heterotopia Cholestasis Peripheral demyelination Skin nodule Gliosis Ascites Bifid nose Ectropion Anomalous pulmonary venous return Nephritis Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Glomerulonephritis Short 4th metacarpal Relative macrocephaly Neoplasm of the skin Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Bradycardia Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Skin tags Abnormality of the neck Postaxial polydactyly Ovarian carcinoma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Neoplasm of the endocrine system Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Broad face Palmoplantar keratoderma Oral cleft Plantar pits Malabsorption Hypopigmentation of hair Freckling Restrictive ventilatory defect Melanoma Acanthosis nigricans Abnormality of the hair Amblyopia Anorexia Thickened skin Epidermal acanthosis Astigmatism Dyspnea Severe vision loss Cardiomyopathy Myopia Interstitial pneumonitis Bronchiolitis IgM deficiency Recurrent sinopulmonary infections Immune dysregulation Corneal erosion IgA deficiency Cellulitis Abnormal blistering of the skin Iris hypopigmentation Gingival bleeding Arachnodactyly Brachycephaly Carious teeth Facial palsy Telecanthus Proteinuria Carcinoma EEG abnormality Coarse facial features Kyphoscoliosis Mandibular prognathia Proptosis Glaucoma Downslanted palpebral fissures Abnormality of visual evoked potentials Wide nasal bridge Motor delay Spasticity Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Abnormality of the optic nerve Hematochezia Ovarian fibroma Bridged sella turcica Hypoplasia of teeth Chorioretinal coloboma Narrow nasal bridge Macule Mixed hearing impairment Short finger Supernumerary nipple Open bite Mild short stature Anophthalmia Abnormality of dental morphology Stridor Ectopia lentis Abnormality of digit Hand polydactyly Brittle hair Short metatarsal Dermal atrophy Reduced number of teeth Recurrent skin infections Arnold-Chiari malformation Oligodontia Renal hypoplasia/aplasia Multicystic kidney dysplasia Horseshoe kidney Aplasia/Hypoplasia of the skin Telangiectasia of the skin Pointed chin Stenosis of the external auditory canal Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Aplasia/Hypoplasia of the lungs Anteriorly placed anus Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Congenital hip dislocation Increased body weight Cardiac fibroma Alopecia Corneal opacity Microtia Camptodactyly of finger Abnormal cardiac septum morphology Abnormality of the pinna Camptodactyly Joint laxity Hydronephrosis Umbilical hernia Gastroesophageal reflux Agenesis of corpus callosum Abnormal heart morphology Nail dystrophy Patent ductus arteriosus Obesity Abnormality of cardiovascular system morphology Ventricular septal defect Dysphagia Intrauterine growth retardation Cognitive impairment Ptosis Short stature Hamartomatous stomach polyps Irregular ossification of hand bones Finger syndactyly Pruritus Abnormality of the nail Postaxial hand polydactyly Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Omphalocele Thin skin Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Overgrowth Toe syndactyly Abnormality of the skin Nail dysplasia Dental malocclusion Short metacarpal Ectodermal dysplasia Intestinal malrotation Broad nasal tip Hypodontia Delayed eruption of teeth Facial asymmetry Abnormality of the foot Pharyngitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Single transverse palmar crease, related diseases and genetic alterations Myopia and Arthrogryposis multiplex congenita, related diseases and genetic alterations High palate and Renal agenesis, related diseases and genetic alterations Ptosis and Stomach cancer, related diseases and genetic alterations Strabismus and Macroglossia, related diseases and genetic alterations

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