Cataract, and Vomiting

Diseases related with Cataract and Vomiting

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


Top matches:

Low match FAMILIAL ABDOMINAL AORTIC ANEURYSM


Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). Genetic Heterogeneity of Abdominal Aortic AneurysmMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (OMIM ) on chromosome 4q31; AAA3 (OMIM ) on chromosome 9p21; and AAA4 (OMIM ) on chromosome 12q13.

FAMILIAL ABDOMINAL AORTIC ANEURYSM Is also known as aneurysm, abdominal aortic|aaa|abdominal aortic aneurysm

Related symptoms:

  • Pain
  • Cataract
  • Hypertension
  • Vomiting
  • Dilatation


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL ABDOMINAL AORTIC ANEURYSM

Low match GALACTOSE EPIMERASE DEFICIENCY


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

Low match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


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

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Other less relevant matches:

Low match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


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

Low match CRONKHITE-CANADA SYNDROME


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

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

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 SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Vomiting

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Pain Nystagmus Muscle weakness Photophobia Weight loss Growth delay Failure to thrive Nephropathy Visual impairment Nausea

Rare Symptoms - Less than 30% cases


Neoplasm Migraine Spasticity Peripheral neuropathy Dysarthria Abnormality of the skeletal system Rod-cone dystrophy Polyuria Headache Polydipsia Polyneuropathy Urinary incontinence Abnormality of skin pigmentation Edema Hypokalemia Fatigue Alopecia Retinopathy Osteoporosis Diarrhea Osteopenia Spastic paraparesis Paraparesis Anemia Seizures Malabsorption Ataxia Stage 5 chronic kidney disease Impairment of galactose metabolism Frontal bossing Congenital cataract Splenomegaly Proteinuria Hypergalactosemia Hypertension Constipation Hypogonadism Aminoaciduria Feeding difficulties Hernia Galactosuria Abnormal blistering of the skin Cutaneous photosensitivity Overgrowth Eczema Lower limb spasticity Sparse scalp hair Telangiectasia Hypopigmentation of the skin Impaired vibratory sensation Abnormality of pelvic girdle bone morphology Leukemia Skin rash Urinary urgency Generalized amyotrophy Progressive spasticity Hiatus hernia Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Melanoma Abnormal cerebellum morphology Erythroderma Clinodactyly Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Poikiloderma Shallow acetabular fossae Myopia Skeletal muscle atrophy Gait disturbance Osteosarcoma Delayed skeletal maturation Squamous cell carcinoma Babinski sign Alopecia of scalp Pes cavus Severe vision loss Striae distensae Gastroesophageal reflux Spastic paraplegia Basal cell carcinoma Paraplegia Lower limb muscle weakness Specific learning disability Hyperreflexia Cirrhosis Chorioretinal dystrophy Premature ovarian insufficiency Abnormality of the kidney Scarring Nyctalopia Hypermetropia Retinal degeneration Retinal dystrophy Renal cyst Progressive visual loss Involuntary movements Renal dysplasia Abnormality of retinal pigmentation Hepatic fibrosis Incoordination Chronic kidney disease Nephritis Renal insufficiency Cone-shaped epiphysis Diabetes insipidus Nephronophthisis High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Tubulointerstitial nephritis Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Visual loss Blindness Dysfunction of lateral corticospinal tracts Sensory neuropathy Epicanthus Optic atrophy Tremor Depressivity Encephalopathy Gait ataxia Mental deterioration Irritability Abnormality of the liver Confusion Unsteady gait Peripheral axonal neuropathy Erythema Distal sensory impairment Coma Biliary tract abnormality Hypergonadotropic hypogonadism Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Apathy Bilateral single transverse palmar creases Sensorimotor neuropathy Sensory impairment Cholestasis Hemiparesis Intention tremor Status epilepticus Type II diabetes mellitus Pigmentary retinopathy Sparse hair Xerostomia Postnatal growth retardation Severe short stature Diffuse leiomyomatosis Anterior lenticonus Tracheobronchial leiomyomatosis Intellectual disability, mild Areflexia Dry skin Bilateral sensorineural hearing impairment Progressive hearing impairment Progressive sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Fever Obesity Acidosis High-frequency sensorineural hearing impairment Hepatosplenomegaly Hypoglycemia Hyperlordosis Hepatic steatosis Metabolic acidosis Abdominal distention Increased body weight Pancreatitis Hyperlipidemia Hypercholesterolemia Elevated alkaline phosphatase Hypercalciuria Rickets Diffuse glomerular basement membrane lamellation Lenticonus Bowing of the legs Delayed speech and language development Dilatation Diabetes mellitus Tachycardia Abnormality of the cardiovascular system Myocardial infarction Atherosclerosis Shock Aortic aneurysm Peripheral arterial stenosis Thoracic aortic aneurysm Abdominal aortic aneurysm Generalized hypotonia Muscular hypotonia Intellectual disability, severe Thickening of the glomerular basement membrane Jaundice Nausea and vomiting Aciduria Delayed gross motor development Dysphagia Dyspnea Cough Hematuria Asthma Skeletal muscle hypertrophy Wheezing Microscopic hematuria Macroscopic hematuria Hyperglycemia Hypophosphatemia Carcinoma Furrowed tongue Hypoalbuminemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Colon cancer Sparse body hair Generalized hyperpigmentation Thromboembolism Abnormality of the vasculature Hypomagnesemia Hematochezia Dystrophic toenail Clubbing of fingers Dystrophic fingernails Abnormal intestine morphology Intestinal polyposis Protein-losing enteropathy Stomach cancer Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Abnormality of the dentition Prominent forehead Hyperhidrosis Hyperkeratosis Cachexia Abnormality of the fingernails Reduced subcutaneous adipose tissue Hypouricemia Glycosuria Osteomalacia Hyperuricemia Renal tubular acidosis Poor appetite Protuberant abdomen Ketosis Renal tubular dysfunction Ketonuria Hyperphosphaturia Fasting hypoglycemia Microalbuminuria Generalized aminoaciduria Mild proteinuria Hypocalcemia Albuminuria Hyperuricosuria Galactose intolerance Chronic acidosis Macrocephaly Abdominal pain Autoimmunity Nail dystrophy Paresthesia Tapered finger Nail dysplasia Anorexia Lymphedema Hyperpigmentation of the skin Exudative retinopathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Glioma, related diseases and genetic alterations Hyperreflexia and Nail dysplasia, related diseases and genetic alterations Delayed speech and language development and Jaundice, related diseases and genetic alterations Lymphoma and Cerebellar vermis hypoplasia, related diseases and genetic alterations Myopathy and Polyhydramnios, related diseases and genetic alterations

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