Cardiomyopathy, and Stomach cancer

Diseases related with Cardiomyopathy and Stomach cancer

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


Top matches:

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Low match MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2


MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET


Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Low match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match FTH1-RELATED IRON OVERLOAD


FTH1-RELATED IRON OVERLOAD Is also known as fth1-associated iron overload|iron overload, autosomal dominant

Related symptoms:

  • Neoplasm
  • Increased serum ferritin
  • Stomach cancer


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FTH1-RELATED IRON OVERLOAD

Low match LI-FRAUMENI SYNDROME 2; LFS2


Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


SOURCES: MESH OMIM MENDELIAN

More info about LI-FRAUMENI SYNDROME 2; LFS2

Low match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Stomach cancer

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Feeding difficulties Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Stomach cancer. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Increased muscle glycogen content Cafe-au-lait spot Cognitive impairment Pain Cerebral visual impairment Dysphagia Respiratory insufficiency Global developmental delay Limb muscle weakness Dilatation Myopathy Abnormal facial shape Blindness Gastroesophageal reflux Syndactyly Respiratory failure Muscle weakness Anemia Seizures Meningioma Exercise-induced myoglobinuria Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased serum ferritin Breast carcinoma Tremor Sarcoma Dysarthria Peripheral neuropathy Glioma Visual impairment Ankyloglossia Hearing impairment Ataxia Nystagmus Sensorineural hearing impairment Gastric ulcer Cataract Ptosis Squamous cell carcinoma of the skin Exercise-induced muscle cramps Laryngeal stenosis Increased total bilirubin Arthritis Paronychia Laryngeal stridor Congenital localized absence of skin Mitten deformity Junctional split Flexion contracture Fatigue Esophageal stricture Vomiting Jaundice Myalgia Corneal opacity Dark urine Nausea and vomiting Nausea Hemolytic anemia Skin erosion Muscle cramps Exercise intolerance Easy fatigability Polycythemia Reticulocytosis Myoglobinuria Gout Nonspherocytic hemolytic anemia Cholelithiasis Depressivity Gait disturbance Axonal loss Progressive hearing impairment Ragged-red muscle fibers Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Increased variability in muscle fiber diameter Sensory axonal neuropathy Impotence Mildly elevated creatine phosphokinase Vestibular dysfunction Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Hyperventilation Limb ataxia Progressive external ophthalmoplegia Progressive gait ataxia Sensory ataxia Intestinal pseudo-obstruction Positive Romberg sign Acute encephalopathy Gastroparesis Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Impaired distal proprioception Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Sensory ataxic neuropathy External ophthalmoplegia Frequent falls Headache Ophthalmoplegia Aplasia cutis congenita Encephalopathy Areflexia Hyporeflexia Pneumonia Pes cavus Myoclonus Weight loss Gait ataxia Acidosis EEG abnormality Proximal muscle weakness Mental deterioration Distal muscle weakness Abnormality of eye movement Status epilepticus Paresthesia Peripheral axonal neuropathy Lactic acidosis Falls Distal sensory impairment Polyneuropathy Progressive cerebellar ataxia Generalized myoclonic seizures Gliosis Brain atrophy Migraine Increased serum lactate Focal-onset seizure Neuronal loss in central nervous system Onycholysis Carious teeth Atrophic scars Pigmented micronodular adrenocortical disease Abnormal prolactin level Pituitary growth hormone cell adenoma Adrenal pheochromocytoma Increased urinary cortisol level Fibroadenoma of the breast Vestibular Schwannoma Nodular goiter Hypertension associated with pheochromocytoma Uterine neoplasm Bronchogenic cyst Histiocytoma Cardiac myxoma Hepatocellular adenoma Osteochondroma Blue nevus Profuse pigmented skin lesions Peripheral Schwannoma Abnormal pigmentation of the oral mucosa Pigmentation of the sclera Sertoli cell neoplasm Thyroid follicular hyperplasia Abnormality of circulating adrenocorticotropin level Intra-oral hyperpigmentation Short stature Microcephaly Growth delay Intrauterine growth retardation Recurrent paroxysmal headache Pancreatic adenocarcinoma Recurrent infections Prolactin excess Stroke Hirsutism Sudden cardiac death Nevus Subcutaneous nodule Neoplasm of the skin Polycystic ovaries Hypermelanotic macule Colon cancer Ovarian neoplasm Growth hormone excess Increased circulating cortisol level Neoplasm of the pancreas Pituitary adenoma Thyroid adenoma Neoplasm of the endocrine system Thyroid carcinoma Parathyroid adenoma Ovarian cyst Hypoplasia of the musculature Red hair Schwannoma Multiple lentigines Enlarged polycystic ovaries Neoplasm of the breast Pituitary prolactin cell adenoma Testicular neoplasm Adrenocortical carcinoma Frontal bossing Skin rash Milia Alopecia Hepatomegaly Arrhythmia Hypertrophic cardiomyopathy Macroglossia Urinary incontinence Cardiomegaly Left ventricular hypertrophy Progressive muscle weakness Bowel incontinence Abnormality of refraction Diaphragmatic weakness Abnormality of lysosomal metabolism Osteoporosis Muscular hypotonia Narrow mouth Dyspnea Nail dystrophy Hypotrichosis Congestive heart failure Sepsis Nail dysplasia Abnormal blistering of the skin Dehydration Hypoplasia of dental enamel Hoarse voice Recurrent skin infections Pyloric stenosis Motor delay Carotid artery stenosis Reduced subcutaneous adipose tissue Recurrent fractures Malar rash Intellectual disability Hypertelorism Hypertension Brachydactyly Ventricular septal defect Renal insufficiency Clinodactyly Patent ductus arteriosus Abnormal heart morphology Abdominal pain Pulmonic stenosis Short palm Specific learning disability Renovascular hypertension Decreased body weight Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Bicuspid aortic valve Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Atrophy/Degeneration involving the spinal cord



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Insulin resistance, related diseases and genetic alterations Visual impairment and Hypermetropia, related diseases and genetic alterations Myopathy and Genu valgum, related diseases and genetic alterations Flexion contracture and Urinary incontinence, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more