Fever, and Constipation

Diseases related with Fever and Constipation

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

Top matches:

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

Medium match MALT LYMPHOMA

MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.

MALT LYMPHOMA Is also known as maltoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone b-cell lymphoma|mucosa-associated lymphoid tissue lymphoma

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about MALT LYMPHOMA

Other less relevant matches:

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

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

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Top 5 symptoms//phenotypes associated to Fever and Constipation

Symptoms // Phenotype % cases
Feeding difficulties Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Dysphagia Irritability Pain Short stature Fatigue Nausea and vomiting Anxiety Encephalopathy Hypertension Tremor Weight loss Dysarthria Global developmental delay Polydipsia Polyuria

Rare Symptoms - Less than 30% cases

Hyperactivity Babinski sign Ptosis Motor delay Dehydration Nephrogenic diabetes insipidus Urinary retention Diabetes insipidus Hypertonia Behavioral abnormality Dystonia Depressivity Rigidity Renal insufficiency Drooling Muscular hypotonia of the trunk Limb dystonia Lethargy Hypokinesia Opisthotonus Dysuria Parkinsonism Bradykinesia Progressive neurologic deterioration Obsessive-compulsive behavior Spasticity Excessive salivation Strabismus Hypertonic dehydration Hydronephrosis Hydroureter Abnormal facial shape Enuresis nocturna Failure to thrive Gait ataxia Myoclonus Anemia Hypernatremia Feeding difficulties in infancy Unexplained fevers Delayed speech and language development Oculogyric crisis Ataxia Hyperkinesis Respiratory distress Megacystis Abdominal pain Giant hypertrophic gastritis Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Esophageal neoplasm Low-set ears Brachydactyly Neoplasm of the colon Neoplasm of the rectum Myopia Neoplasm of the small intestine Neoplasm of the stomach Papilledema Mastocytosis Eosinophilia Chondrocalcinosis Chronic pain Premature loss of primary teeth Pulmonary insufficiency Neoplasm Coarse facial features Pallor Abnormality of the liver Skin rash Abdominal distention Gastrointestinal hemorrhage Hyperpigmentation of the skin Sarcoma Soft tissue sarcoma Urticaria Intestinal obstruction Large hands Hypermelanotic macule Neurofibromas Atrial septal defect Irregular hyperpigmentation Lipoma Paraganglioma Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Anteverted nares Apnea Posteriorly rotated ears Impotence Memory impairment Neuronal loss in central nervous system Diplopia Hallucinations Abnormal autonomic nervous system physiology Slurred speech Apathy Stridor Agitation Aphasia Coma Insomnia Hyperventilation Urinary bladder sphincter dysfunction Hypothermia Bulbar signs Central apnea Astrocytosis Hypersomnia Delirium Gliosis Neurodegeneration Autism Small hand Gastroesophageal reflux Thin upper lip vermilion Low-set, posteriorly rotated ears Hyperlordosis Autistic behavior Wide mouth Attention deficit hyperactivity disorder Broad forehead Hypermetropia Short foot Inability to walk Small nail Broad-based gait Nystagmus Cerebellar atrophy Dementia Osteomalacia Mental deterioration Generalized tonic-clonic seizures Confusion Tachycardia Premature loss of teeth Sepsis Rickets Impulsivity Abnormality of movement Postural instability Choreoathetosis Involuntary movements Intellectual disability, progressive Severe muscular hypotonia Torticollis Poor suck Episodic fever Abnormality of the eye Limb hypertonia Infantile encephalopathy Hyperphenylalaninemia Talipes equinovarus Intellectual disability, mild Cerebral atrophy Pes cavus Abnormality of extrapyramidal motor function Postural tremor Abnormality of eye movement Gait disturbance Brisk reflexes Hypernatremic dehydration Growth delay Polyhydramnios Anorexia Pollakisuria Hypovolemia Nocturia Hyposthenuria Functional abnormality of the bladder Visual impairment Hyperreflexia Recurrent respiratory infections Lymphadenopathy Abnormality of the thyroid gland Pulmonary infiltrates B-cell lymphoma Mediastinal lymphadenopathy Abnormal nasolacrimal system morphology Posterior uveitis Muscular hypotonia Mask-like facies Lower limb hyperreflexia Hypercalcemia Headache Urethral stenosis Mild proteinuria Urethral obstruction Urethral valve Encopresis Abnormal facial expression Nocturnal lagophthalmos Abnormality of the dentition Pneumonia Pyelonephritis Brachycephaly Respiratory failure Proptosis Arthralgia Arthritis Craniosynostosis Waddling gait Bone pain Increased intracranial pressure Facial grimacing Neurogenic bladder Central hypotonia Stage 5 chronic kidney disease Progressive encephalopathy Generalized dystonia Focal dystonia Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Cryptorchidism Dilatation Proteinuria Nephropathy Wolff-Parkinson-White syndrome Hematuria Vesicoureteral reflux Urinary incontinence Recurrent urinary tract infections Clubbing Keratitis Acute kidney injury Keratoconjunctivitis sicca Enuresis Snoring


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