Cataract, and Abdominal pain

Diseases related with Cataract and Abdominal pain

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


Top matches:

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Low match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low 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 CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Cataract and Abdominal pain

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Myopathy Cardiomyopathy Generalized hyperpigmentation Lipodystrophy Anxiety Bruising susceptibility Sleep disturbance Depressivity Immunodeficiency Muscular hypotonia Visual impairment Failure to thrive Seizures Elevated serum creatine phosphokinase Hypertension Hypokalemia Recurrent fractures Nephrolithiasis Splenomegaly Edema Hepatomegaly Psychosis Muscle weakness Anemia Nystagmus Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Truncal obesity Ataxia Neoplasm of the endocrine system Pallor Tremor Abnormal bleeding Nevus Hematochezia Cerebral atrophy Anorexia Memory impairment Cerebral cortical atrophy Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the nervous system Diarrhea Vomiting Lymphadenopathy Mood changes Mental deterioration Menorrhagia Bipolar affective disorder Acne Premature ovarian insufficiency Recurrent skin infections Venous thrombosis Telangiectasia of the skin Thin skin Aseptic necrosis Round face Infertility Obesity Lethargy Adrenal hyperplasia Pituitary adenoma Onychomycosis Osteoporosis Visual loss Metrorrhagia Headache Generalized hirsutism Diabetes mellitus Glomerulosclerosis Carcinoma Proteinuria Kyphosis Delayed skeletal maturation Kyphoscoliosis Abnormality of the liver Arthralgia Aciduria Renal insufficiency Hematuria Cognitive impairment Generalized hypotonia Intellectual disability Triangular face Peripheral neuropathy Behavioral abnormality Dysarthria Gait disturbance Feeding difficulties Dysphagia Ventriculomegaly Hepatic steatosis Freckles in sun-exposed areas Metaphyseal irregularity Areflexia Dystonia Abnormality of the eye Abnormality of eye movement Abnormality of the foot Nausea and vomiting Limb muscle weakness Generalized tonic-clonic seizures Neurological speech impairment Attention deficit hyperactivity disorder Developmental regression Hypertrophic cardiomyopathy Cirrhosis Aggressive behavior Arrhythmia Scarring Dementia Pes cavus Recurrent respiratory infections Hyporeflexia Partial albinism Menometrorrhagia Abnormality of the optic nerve Squamous cell carcinoma of the skin Gastrointestinal hemorrhage Abnormality of the hair Amblyopia Long eyelashes Thickened skin Abnormal lung morphology Epistaxis Epidermal acanthosis Limitation of joint mobility Acanthosis nigricans Osteoarthritis Hypopigmentation of the skin Neutropenia Astigmatism Photophobia Dyspnea Hyperkeratosis Abnormality of dental enamel Melanoma Impaired platelet aggregation Iris hypopigmentation Abnormal thrombocyte morphology Ulcerative colitis Respiratory distress Ocular albinism Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Hypopigmentation of hair Melanocytic nevus Freckling Colitis Prolonged bleeding time Restrictive ventilatory defect Basal cell carcinoma Pulmonary fibrosis Albinism Inflammation of the large intestine Abnormality of movement Neurodegeneration Dyskinesia Hypoglycemia Metabolic acidosis Retinal dystrophy Lactic acidosis Dolichocephaly Leukemia Skin rash Low-set, posteriorly rotated ears Acidosis Underdeveloped nasal alae Posteriorly rotated ears Thrombocytopenia Cerebellar atrophy Downslanted palpebral fissures Optic atrophy Fever Low-set ears Abnormal facial shape Progressive cerebellar ataxia Blue sclerae Global developmental delay Normocytic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Extramedullary hematopoiesis Clumsiness Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Microcephaly Self-mutilation of tongue and lips due to involuntary movements Sensory neuropathy Vasculitis Abnormality of the thyroid gland Generalized amyotrophy Personality changes Self-injurious behavior Abnormality of vision Drooling EMG abnormality Involuntary movements Self-mutilation Progressive neurologic deterioration Neuronal loss in central nervous system Chorea Gliosis Parkinsonism Generalized muscle weakness Ascites Blindness Protruding tongue Acute hepatic failure Square-wave jerks Distal upper limb muscle weakness Subcortical dementia Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Caudate atrophy Abnormal erythrocyte morphology Acanthocytosis Difficulty in tongue movements Abetalipoproteinemia Abnormal urinary color Muscle fiber atrophy Dysgraphia Disinhibition Orofacial dyskinesia Tics Recurrent infections Moon facies Myopia Hypoplastic toenails Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Sparse body hair Colon cancer Aplasia/Hypoplasia of the eyebrow Clubbing Clubbing of fingers Hypoalbuminemia Abnormality of the kidney Cachexia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Dystrophic toenail Furrowed tongue Stage 5 chronic kidney disease Decreased taste sensation Congenital cataract Retinopathy Intellectual disability, mild Conductive hearing impairment Hyperhidrosis Congestive heart failure Difficulty walking Gastrointestinal carcinoma Dystrophic fingernails Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Lymphedema Nail dysplasia Tachycardia Abnormality of the lower limb Enlargement of the wrists Enlarged epiphyses Renal phosphate wasting Tubulointerstitial fibrosis Proximal tubulopathy Thin bony cortex Hyperphosphaturia Tubular atrophy Bulging epiphyses Mild global developmental delay Delayed epiphyseal ossification Microscopic hematuria Osteomalacia Glycosuria Hypophosphatemia Bowing of the legs Low-molecular-weight proteinuria Sparse bone trabeculae Tapered finger Nephrocalcinosis Abnormality of skin pigmentation Paresthesia Nail dystrophy Autoimmunity Alopecia Bone pain Aminoaciduria Chronic kidney disease Enlargement of the ankles Macrocephaly Hypercalciuria Rickets Non-acidotic proximal tubulopathy Renal hypophosphatemia Increased serum 1,25-dihydroxyvitamin D3 Hyperuricosuria Nausea Chest pain Strabismus Clinodactyly Increased serum ferritin Congenital hepatic fibrosis Growth delay Micrognathia Flexion contracture Frontal bossing Pectus excavatum Pes planus Osteopenia Deeply set eye Prominent nasal bridge Hepatic failure Bulbous nose Single transverse palmar crease Decreased body weight Elbow flexion contracture Joint swelling Impotence Subcapsular cataract Abdominal obesity Hepatic fibrosis Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Focal segmental glomerulosclerosis Joint dislocation Decreased circulating ACTH level Increased circulating cortisol level Hirsutism Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Increased body weight Glucose intolerance Hypotension Premature graying of hair Hepatocellular carcinoma Palpitations Raynaud phenomenon Recurrent paroxysmal headache Albuminuria Cranial nerve compression Sinus tachycardia Paraganglioma Pheochromocytoma Flushing Vocal cord paralysis Pulsatile tinnitus Episodic abdominal pain Aniridia Cerebral hemorrhage Hypercalcemia Dysphonia Hemangioma Cafe-au-lait spot Renal artery stenosis Episodic paroxysmal anxiety Posterior subcapsular cataract Positive regitine blocking test Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Fulminant hepatic failure Episodic hypertension Elevated urinary norepinephrine Paroxysmal vertigo Paraganglioma of head and neck Adrenal pheochromocytoma Elevated urinary dopamine Elevated urinary epinephrine Extraadrenal pheochromocytoma Episodic hyperhidrosis Panic attack Hypertensive retinopathy Hypertension associated with pheochromocytoma Normocytic hypoplastic anemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Retrognathia, related diseases and genetic alterations Edema and Gliosis, related diseases and genetic alterations Cardiomyopathy and Hydrocephalus, related diseases and genetic alterations Muscle weakness and Splenomegaly, related diseases and genetic alterations Nystagmus and Short metacarpal, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more