Edema, and Constipation

Diseases related with Edema and Constipation

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

Top matches:

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Other less relevant matches:

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about NEPHROPATHIC INFANTILE CYSTINOSIS

Low match MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Top 5 symptoms//phenotypes associated to Edema and Constipation

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Polydipsia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Constipation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Intellectual disability Fever Feeding difficulties Polyuria Short stature Growth delay Hypertonic dehydration Acidosis Generalized hypotonia Wide nose Arrhythmia Diabetes insipidus Diarrhea Irritability Abnormal facial shape Feeding difficulties in infancy

Rare Symptoms - Less than 30% cases

Strabismus Nephrocalcinosis Infantile muscular hypotonia Hypokalemia Abnormality of the cerebral white matter Low-set ears Hyperkalemia Abnormal pyramidal sign Broad forehead Hyperactivity Nystagmus Hypertelorism Macrocephaly Cerebellar atrophy Long philtrum Prominent forehead Macrotia Triangular face Pollakisuria Abnormality of metabolism/homeostasis Gastroesophageal reflux Neonatal hypotonia Optic atrophy Hepatomegaly High palate Scoliosis Nocturia Hyposthenuria Megacystis Edema of the lower limbs Nausea and vomiting Nephrogenic diabetes insipidus Paresthesia Short nose Osteopenia Polyhydramnios Hypernatremia Renal insufficiency Pain Orthostatic hypotension Unexplained fevers Nephropathy Antinuclear antibody positivity Gout Arthralgia Hepatosplenomegaly Increased serum ferritin Myalgia Acute hepatic failure Anemia Abdominal pain Headache Splenomegaly Oral leukoplakia Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Synovitis Stiff neck Germinoma Abnormality of the anterior pituitary Arthritis Erythema Proteinuria Chronic kidney disease Ascites Chest pain Stage 5 chronic kidney disease Asthma Nephrotic syndrome Myocardial infarction Osteoarthritis Meningitis Vasculitis Purpura Pancreatitis Systemic lupus erythematosus Episodic fever Rheumatoid arthritis Intestinal obstruction Inflammation of the large intestine Leukocytosis Elevated erythrocyte sedimentation rate Lymphadenopathy Malabsorption Skin rash Amyloidosis Nausea Pericarditis Abnormality of the kidney Muscle weakness Hyperthyroidism Pleuritis Brachycephaly Hyperactive renin-angiotensin system Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Microcephaly Micrognathia Cryptorchidism Flexion contracture Hyperreflexia Skeletal muscle atrophy Absent speech Thin upper lip vermilion Increased urinary potassium Muscular hypotonia of the trunk Developmental regression Postnatal growth retardation Wide mouth Pectus carinatum Severe global developmental delay Poor speech Smooth philtrum Neurodegeneration Spastic tetraplegia Tetraparesis Spastic tetraparesis Decreased motor nerve conduction velocity Poor eye contact Fetal polyuria Renal potassium wasting Congenital hypoplastic anemia Hypercalciuria Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Recurrent meningitis Orchitis Frontal bossing Small for gestational age Muscle cramps Generalized muscle weakness Premature birth Ventricular arrhythmia Histiocytosis Hypochloremia Hyperaldosteronism Hypomagnesemia Renal salt wasting Abnormally large globe Alkalosis Chondrocalcinosis Tetany Metabolic alkalosis Impaired platelet aggregation Increased circulating renin level Hypocalciuria Pseudohypoaldosteronism Hypokalemic metabolic alkalosis Hypokalemic alkalosis Central diabetes insipidus Large forehead Enuresis Abnormality of vitamin D metabolism Hypophosphatemia Glycosuria Renal tubular dysfunction Hyperphosphaturia Abnormal cornea morphology Corneal crystals Renal Fanconi syndrome Tubulointerstitial abnormality Hyperchloremic metabolic acidosis Low-molecular-weight proteinuria Abnormality of thyroid physiology Abnormality of ion homeostasis Hearing impairment Aminoaciduria Sensorineural hearing impairment Muscular hypotonia Hypoplasia of the corpus callosum Cerebral atrophy Recurrent infections Alopecia Retrognathia Blepharophimosis Hepatic failure Recurrent fractures Decreased antibody level in blood Short palpebral fissure Long eyelashes Rickets Pigmentary retinopathy Thoracic scoliosis Abnormal echocardiogram Congestive heart failure Abnormal cardiac septum morphology Peripheral axonal neuropathy Atrial fibrillation Exercise intolerance EMG: myopathic abnormalities Impotence Pericardial effusion Exertional dyspnea Heart block Right ventricular hypertrophy Reduced ejection fraction Atrial arrhythmia Photophobia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Abnormal ventricular filling Orthostatic syncope Hydronephrosis Anorexia Hydroureter Hypovolemia Enuresis nocturna Functional abnormality of the bladder Hypernatremic dehydration Cognitive impairment Prominent occiput Hypoventilation Hypotension Segmental myoclonic seizures Cardiomyopathy Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Neoplasm Brisk reflexes Fatigue Osteoporosis Diabetes mellitus Weight loss Autoimmunity Lethargy Dry skin Confusion Vertigo Coma Gliosis Syncope Growth hormone deficiency Palpebral edema Pointed chin Chronic constipation Gait ataxia Overlapping fingers Generalized edema Hand clenching Ataxia Delayed speech and language development Dysarthria Downslanted palpebral fissures Tremor Anteverted nares Intellectual disability, mild Cerebellar hypoplasia Cerebral cortical atrophy Narrow mouth Depressed nasal ridge Deeply set eye Aggressive behavior Protruding ear Autistic behavior Dysmetria Unsteady gait Long face Bulbous nose Broad nasal tip Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Slender nose


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