Anemia, and Dysphagia

Diseases related with Anemia and Dysphagia

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


Top matches:

Low match GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA


Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.

GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types|ddeb, pasini and cockayne-touraine types|ddeb, generalized|ddeb-gen

Related symptoms:

  • Anemia
  • Dysphagia
  • Carious teeth
  • Abnormality of the fingernails
  • Hypopigmented skin patches


SOURCES: ORPHANET MENDELIAN

More info about GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB


Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features.Epidermolysis bullosa simplex (see, e.g., {131800}) and epidermolysis bullosa junctional (see, e.g., {226700}) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB Is also known as epidermolysis bullosa dystrophica, pasini type|ebdd|epidermolysis bullosa dystrophica, cockayne-touraine type|dystrophic epidermolysis bullosa, autosomal dominant|ebdct|albopapuloid dominant dystrophic epidermolysis bullosa

Related symptoms:

  • Anemia
  • Dysphagia
  • Constipation
  • Scarring
  • Papule


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

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Other less relevant matches:

Low match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Low match PAROXYSMAL NOCTURNAL HEMOGLOBINURIA


Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Dysphagia
  • Abdominal pain
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Low match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Dysphagia

Symptoms // Phenotype % cases
Skin vesicle Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Esophageal stricture Uncommon - Between 30% and 50% cases
Corneal erosion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Atrophic scars Milia Carious teeth

Rare Symptoms - Less than 30% cases


Neurofibromas Pain Hepatomegaly Fever Respiratory distress Vomiting Abnormality of the fingernails Weight loss Sarcoma Intestinal obstruction Glomerulosclerosis Fatigue Pallor Feeding difficulties Abnormal toenail morphology Fragile skin Aplasia cutis congenita Oral mucosal blisters Neoplasm Respiratory failure Thrombocytopenia Cheilitis Hypopigmented skin patches Urethral stricture Nail dystrophy Seizures Urinary retention Abnormal blistering of the skin Abnormality of the liver Hepatosplenomegaly Rigidity Apnea Developmental regression Ophthalmoplegia Esotropia Aspiration Progressive neurologic deterioration Bulbar signs Coarse facial features Oculomotor apraxia Cerebral atrophy Osteochondroma Recurrent aspiration pneumonia Trismus Protuberant abdomen Spasticity Splenomegaly Renal dysplasia Hydronephrosis Microtia Sepsis Limitation of joint mobility Premature birth Neoplasm of the adrenal cortex Underdeveloped nasal alae Dehydration Abnormality of the outer ear Hyperreflexia Skin erosion Ureterocele Hemangiomatosis Abnormality of the stomach Aplasia of the bladder Congenital pyloric atresia Global developmental delay Strabismus Nausea and vomiting Skin rash Gastrointestinal hemorrhage Abdominal distention Scoliosis Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Giant hypertrophic gastritis Pathologic fracture Short stature Growth delay Neoplasm of the small intestine Recurrent fractures Subcutaneous nodule Bone pain Osteolysis Cranial nerve paralysis Cerebral palsy Venous thrombosis Hemangioma Breast carcinoma Neoplasm of the rectum Ovarian neoplasm Goiter Deeply set eye Hyperpigmentation of the skin Eosinophilia Multiple enchondromatosis Urticaria Large hands Hypermelanotic macule Multiple exostoses Irregular hyperpigmentation Lipoma Schwannoma Exostoses Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Chondrosarcoma Astrocytoma Mastocytosis Parathyroid adenoma Osteosarcoma Pituitary adenoma Paraganglioma Narrow mouth Polyhydramnios Normochromic anemia Intention tremor Decreased nerve conduction velocity Hypoalbuminemia Postural tremor Focal segmental glomerulosclerosis Glomerulopathy Action tremor Demyelinating peripheral neuropathy Abnormal glycosylation Generalized-onset seizure Mild proteinuria Diarrhea Dyspnea Cough Lymphadenopathy Nausea Ascites Chest pain Nephrotic syndrome Nephropathy Abnormal lung morphology Peripheral neuropathy Dermal atrophy Scarring Papule Nail dysplasia Anonychia Dystrophic toenail Congenital localized absence of skin Ataxia Dysarthria Falls Tremor Cerebellar atrophy Renal insufficiency Dementia Myoclonus Gait ataxia Proteinuria Unsteady gait Stage 5 chronic kidney disease Hypotension Pleural effusion Short nose Cerebral artery stenosis Transient ischemic attack Hypercoagulability Aplastic anemia Angina pectoris Abnormal renal physiology Abnormal thrombosis Hemoglobinuria Hypoplastic anemia Visual loss Thromboembolism Alopecia Hypotrichosis Delayed puberty Abnormality of the hair Squamous cell carcinoma Ankyloglossia Abnormality of the anus Mitten deformity Flexion contracture Pulmonary embolism Acute myeloid leukemia Abnormality of the thorax Obstruction of the superior vena cava Oral-pharyngeal dysphagia Night sweats Abnormality of the pleura Abnormality of cardiovascular system physiology Functional respiratory abnormality Fourth cranial nerve palsy Constitutional symptom Malignant mesothelioma Pleural mesothelioma Myelodysplasia Peritoneal mesothelioma Pericardial mesothelioma Muscle weakness Hemolytic anemia Abnormal bleeding Pancytopenia Pulmonary arterial hypertension Myocardial infarction Bone marrow hypocellularity Neoplasm of the parathyroid gland



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