Abnormality of the skeletal system, and Irritability

Diseases related with Abnormality of the skeletal system and Irritability

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Irritability that can help you solving undiagnosed cases.


Top matches:

Low match HEREDITARY CENTRAL DIABETES INSIPIDUS


Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

HEREDITARY CENTRAL DIABETES INSIPIDUS Is also known as hereditary cdi|hereditary neurogenic diabetes insipidus

Related symptoms:

  • Growth delay
  • Fever
  • Vomiting
  • Diarrhea
  • Weight loss


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CENTRAL DIABETES INSIPIDUS

Low match TREHALASE DEFICIENCY


This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.

TREHALASE DEFICIENCY Is also known as trehalose intolerance|isolated trehalose intolerance

Related symptoms:

  • Neoplasm
  • Pain
  • Vomiting
  • Diarrhea
  • Abdominal pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TREHALASE DEFICIENCY

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Encephalopathy
  • Irritability


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

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Other less relevant matches:

Low match SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID


characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY


A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.

POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY Is also known as pots due to net deficiency|orthostatic intolerance due to net deficiency|neurocirculatory asthenia|mitral valve prolapse syndrome|familial orthostatic tachycardia due to norepinephrine transporter deficiency|soldiers heart|irritable heart

Related symptoms:

  • Fatigue
  • Anxiety
  • Irritability
  • Vertigo
  • Nausea


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY

Low match BENIGN PAROXYSMAL TORTICOLLIS OF INFANCY


Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.

Related symptoms:

  • Ataxia
  • Vomiting
  • Irritability
  • Pallor
  • Vertigo


SOURCES: ORPHANET MENDELIAN

More info about BENIGN PAROXYSMAL TORTICOLLIS OF INFANCY

Low match INTERSTITIAL CYSTITIS


Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.

INTERSTITIAL CYSTITIS Is also known as interstitial cystitis/bladder pain syndrome|bladder pain syndrome|ic/pbs|painful bladder syndrome|interstitial cystitis/painful bladder syndrome|ic/bps

Related symptoms:

  • Pain
  • Irritability
  • Abnormality of the genital system
  • Urinary urgency
  • Abnormal vagina morphology


SOURCES: MESH ORPHANET MENDELIAN

More info about INTERSTITIAL CYSTITIS

Low match CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY


Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Related symptoms:

  • Pain
  • Diarrhea
  • Hernia
  • Abdominal pain
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

Low match FAMILIAL INFANTILE MYOCLONIC EPILEPSY


FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Irritability

Symptoms // Phenotype % cases
Vomiting Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Growth delay Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Irritability. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Seizures Vertigo Ataxia Apathy Language impairment Mental deterioration Primitive reflex Global developmental delay Dehydration Malabsorption Abdominal distention Febrile seizures Abnormal vagina morphology Abnormality of the bladder Nocturia Dyspareunia Muscle fibrillation Leber optic atrophy Abnormality of the urethra Abnormality of the menstrual cycle Pollakisuria Chronic pain Urinary urgency Absence seizures Abnormality of the genital system Abnormal head movements Drowsiness Torticollis Migraine Pallor Photosensitive tonic-clonic seizures Orthostatic tachycardia Asthenia Delayed fine motor development Functional abnormality of the bladder Abnormality of the labia Urinary bladder inflammation Dysarthria Generalized myoclonic seizures Clumsiness Abnormal cerebellum morphology Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Developmental regression Aggressive behavior Myoclonus Intellectual disability, mild Gait disturbance Intellectual disability Focal-onset seizure Vitamin B12 deficiency Volvulus Orthostatic hypotension Esophagitis Inflammation of the large intestine Intestinal obstruction Chronic diarrhea Metabolic acidosis Acidosis Hernia Chronic fatigue Hyperorality Mitral valve prolapse Epileptic encephalopathy Failure to thrive in infancy Nephrolithiasis Abnormality of metabolism/homeostasis Failure to thrive Central hypotonia Epileptic spasms Poor eye contact Infantile spasms Intellectual disability, profound Hypsarrhythmia Inability to walk Abdominal colic Encephalopathy Generalized hypotonia Decreased small intestinal mucosa lactase activity Peptic ulcer Villous atrophy Celiac disease Neoplasm Diabetes insipidus Polydipsia Lethargy Weight loss Malnutrition Ventriculomegaly Hypotension Frontotemporal dementia Nausea Anxiety Fatigue Emotional blunting Semantic dementia Fever Inappropriate laughter Perseveration Disinhibition Echolalia Neurofibrillary tangles Behavioral abnormality Polyphagia Aphasia Alzheimer disease Personality changes Stereotypy Neuronal loss in central nervous system Gliosis Neurodegeneration Rigidity Cerebral cortical atrophy Dementia EEG with irregular generalized spike and wave complexes



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