Ptosis, and Weight loss

Diseases related with Ptosis and Weight loss

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

Top matches:

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Medium match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Other less relevant matches:

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

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

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Top 5 symptoms//phenotypes associated to Ptosis and Weight loss

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cachexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ptosis and Weight loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Muscular hypotonia Ophthalmoplegia Global developmental delay Vomiting External ophthalmoplegia Dysarthria Muscle weakness Bilateral ptosis Motor delay Intrauterine growth retardation Peripheral axonal neuropathy Dysphagia Generalized myoclonic seizures Abnormality of eye movement Hypertension Tremor Ragged-red muscle fibers Myoclonus Constipation Generalized hypotonia Polyneuropathy Sensorineural hearing impairment Lactic acidosis Feeding difficulties Acidosis Peripheral neuropathy Areflexia

Rare Symptoms - Less than 30% cases

Cranial nerve paralysis Intestinal pseudo-obstruction Impotence Easy fatigability Gastroparesis Encephalopathy Nystagmus Subsarcolemmal accumulations of abnormally shaped mitochondria Hypogonadotrophic hypogonadism Gynecomastia Multiple mitochondrial DNA deletions Axonal degeneration Osteopenia Hypogonadism Headache Blindness Contractures of the joints of the lower limbs Hypovolemia Progressive external ophthalmoplegia Abnormality of mitochondrial metabolism Ophthalmoparesis Autoimmune antibody positivity Dystonia Pes cavus Muscular hypotonia of the trunk Brain atrophy Hypoplasia of the corpus callosum Gait disturbance Cognitive impairment Spasticity Broad forehead Microcephaly Progressive hearing impairment Myopathy Absent speech Open mouth Limb muscle weakness Aggressive behavior Hyporeflexia Choreoathetosis Skeletal muscle atrophy Visual impairment Proximal muscle weakness Distal muscle weakness Paresthesia Distal sensory impairment Abnormality of the upper urinary tract Cytochrome C oxidase-negative muscle fibers Ketonuria Apraxia Nausea Gastrointestinal dysmotility Intellectual disability, severe Abnormal heart morphology Pain Anemia Nausea and vomiting Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Neonatal hypotonia Increased serum lactate Coma Dehydration Downturned corners of mouth Hyperglycemia Diarrhea Prominent metopic ridge Respiratory insufficiency Glycosuria Abdominal pain Renal tubular dysfunction Neurodevelopmental delay Gait ataxia Profound static encephalopathy Decreased sensory nerve conduction velocity Hypointensity of cerebral white matter on MRI Appendicular hypotonia Intellectual disability, profound Severe muscular hypotonia Plagiocephaly Intestinal perforation Profound global developmental delay Infantile muscular hypotonia Diffuse leukoencephalopathy Tented upper lip vermilion Global brain atrophy Hyperalaninemia Intermittent diarrhea Generalized tonic seizures Macrovesicular hepatic steatosis Facial hypotonia Cardiomyopathy Hip contracture Cataract Failure to thrive in infancy Atrophic muscularis propria Abnormality of the extraocular muscles Esotropia Joint laxity Strabismus Low-set ears Epicanthus Downslanted palpebral fissures Frontal bossing Anteverted nares Short neck Cerebral atrophy Posteriorly rotated ears Prominent forehead Brachycephaly High forehead Thin upper lip vermilion Short philtrum Prominent nose Prominent nasal bridge Severe global developmental delay Poor speech Smooth philtrum Bulbous nose Inability to walk Dyskinesia Decreased number of large peripheral myelinated nerve fibers Small hand Tapered finger Sleep disturbance Triangular face Abnormal cell morphology Depressivity EEG abnormality Elevated serum creatine phosphokinase Dementia Sensory ataxia Decreased muscle mass Positive Romberg sign Malnutrition Acute encephalopathy Decreased motor nerve conduction velocity Abnormality of the hand Muscle fiber necrosis Polycystic ovaries Underfolded superior helices Impaired distal vibration sensation Impaired distal proprioception Sensory ataxic neuropathy Atrophy/Degeneration involving the spinal cord Gastroesophageal reflux Difficulty climbing stairs Elevated hepatic transaminase Muscular dystrophy Abnormality of the cerebral white matter Malabsorption Cirrhosis Distal amyotrophy Abdominal distention Peripheral demyelination Chronic diarrhea Leukodystrophy Sensorimotor neuropathy Foot dorsiflexor weakness Hypergonadotropic hypogonadism Leukoencephalopathy Progressive gait ataxia Hyperventilation Abnormality of the mitochondrion Focal-onset seizure Skeletal myopathy Demyelinating peripheral neuropathy Absent Achilles reflex Pneumonia Slender build Mental deterioration Abnormality of the gastrointestinal tract Dilated cardiomyopathy Increased CSF protein Falls Abnormality of the vasculature Progressive cerebellar ataxia Gliosis Migraine Neuronal loss in central nervous system Axonal loss Status epilepticus Frequent falls Limb ataxia Cerebral visual impairment Mitochondrial myopathy Poor appetite Increased variability in muscle fiber diameter Sensory axonal neuropathy Mildly elevated creatine phosphokinase Vestibular dysfunction Scleroderma Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Centrally nucleated skeletal muscle fibers Scoliosis Behavioral abnormality Poor hand-eye coordination Diplopia Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Fatigue Congestive heart failure Osteoporosis Hyperhidrosis Pallor Delayed puberty Infertility Vertigo Hypotension Progressive visual loss Palpitations Ventricular arrhythmia Steatorrhea Adrenocorticotropic hormone deficiency Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Supraventricular arrhythmia Hemianopia Menstrual irregularities Male hypogonadism Goiter Prolactin excess Increased circulating gonadotropin level Growth hormone excess Hyperthyroidism Pericardial effusion Hypokalemia Maternal diabetes Insulin resistance Decreased female libido Fever Spinal cord compression Neuroblastoma Neurofibromas Abnormality of the thorax Bone pain Cafe-au-lait spot Neoplasm Paraganglioma Proximal tubulopathy Aminoaciduria Progressive muscle weakness Progressive neurologic deterioration Generalized muscle weakness Unsteady gait Skin nodule Ganglioneuroma Diabetes mellitus Elevated urinary homovanillic acid Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Retinopathy Elevated urinary vanillylmandelic acid Elevated urinary catecholamines Neoplasm of the nervous system Elevated urinary dopamine Abdominal mass Opsoclonus Adrenal calcification Ganglioneuroblastoma Horner syndrome Decreased fertility in females Sudden loss of visual acuity Abnormality of creatine metabolism Hypermetropia Delayed myelination Chorea Parkinsonism Joint hypermobility Long face Joint hyperflexibility Attention deficit hyperactivity disorder Aganglionic megacolon Autistic behavior Irritability Feeding difficulties in infancy Intellectual disability, moderate Mandibular prognathia Hyperactivity Clumsiness Tall stature Midface retrusion Self-mutilation Duodenal ulcer Urethral stenosis Impaired social interactions Ileus Speech apraxia Chronic constipation Myopathic facies Stereotypy Athetosis Mask-like facies Language impairment Redundant skin Narrow face Exotropia Abnormality of metabolism/homeostasis Malar flattening Decreased circulating ACTH level Periodic hypokalemic paresis Internal ophthalmoplegia Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Abnormality of the pituitary gland Erectile abnormalities Abnormality of hair density Bitemporal hemianopia Decreased fertility in males Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Central adrenal insufficiency Increased thyroid-stimulating hormone level Abnormal visual field test Heteronymous hemianopia Hypertonia Abnormality of color vision Delayed speech and language development Short stature Abnormality of macular pigmentation Abnormal cranial nerve morphology Iris hypopigmentation Bulbar palsy Diabetes insipidus Thyroid crisis Sleep apnea Abnormal autonomic nervous system physiology Hallucinations Optic disc pallor Facial palsy Cerebral cortical atrophy Small intestinal dysmotility


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Corneal opacity, related diseases and genetic alterations Tremor and Hodgkin lymphoma, related diseases and genetic alterations Myopathy and Long face, related diseases and genetic alterations