Peripheral neuropathy, and Hypothyroidism

Diseases related with Peripheral neuropathy and Hypothyroidism

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


Top matches:

Low match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY


Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Hypothyroidism

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Hypothyroidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anxiety Horizontal nystagmus Muscle weakness Hypertension Diabetes mellitus Pes cavus Fatigue Babinski sign Rigidity Parkinsonism Bradykinesia Peripheral axonal neuropathy Obsessive-compulsive behavior Postural tremor Hypogonadism Nystagmus Myopathy Gait disturbance Progressive cerebellar ataxia Hypoglycemia

Rare Symptoms - Less than 30% cases


Global developmental delay Abnormality of extrapyramidal motor function Lower limb hyperreflexia Abnormality of movement Paraplegia Rheumatoid arthritis Torticollis Abnormal cerebellum morphology Micropenis Short stature Limb dystonia Resting tremor Sleep disturbance Cerebellar atrophy Obsessive-compulsive trait Cognitive impairment Cryptorchidism Talipes equinovarus Impaired vibration sensation in the lower limbs Generalized dystonia Pain Retinopathy Seizures Tremor Hyperreflexia Irritability Mental deterioration Scoliosis Delayed puberty Pallor Focal dystonia Autism Dementia Spastic paraplegia Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Sensorineural hearing impairment Brisk reflexes Ventricular hypertrophy Dystonia Abnormal pyramidal sign Congenital nephrotic syndrome Polyneuropathy Tachycardia Progressive hearing impairment Glucose intolerance Ophthalmoplegia Nephrotic syndrome Ptosis Hepatomegaly Abnormality of the liver Cardiomyopathy Dysarthria Motor delay Growth delay Encephalopathy Focal segmental glomerulosclerosis Myalgia Recurrent hypoglycemia Primary hypothyroidism Titubation Alopecia areata Choroideremia Aggressive behavior Proximal muscle weakness Long eyebrows Cerebral cortical atrophy Central heterochromia Hyporeflexia Primary adrenal insufficiency Dysphagia Focal impaired awareness seizure Adrenal insufficiency Dysesthesia Chorioretinal atrophy Progressive gait ataxia Distal amyotrophy Increased HDL cholesterol concentration Abnormal adipose tissue morphology Failure to thrive Frontal bossing Obesity Alopecia Severe short stature Rod-cone dystrophy Sparse hair Distal muscle weakness Small for gestational age Retinal degeneration Thick eyebrow Retinal atrophy Growth hormone deficiency Pigmentary retinopathy Hypoplasia of penis Steroid-resistant nephrotic syndrome Sparse scalp hair Clumsiness Diffuse mesangial sclerosis Long eyelashes Gynecomastia Hypogonadotrophic hypogonadism Sensory axonal neuropathy Stroke Glomerulosclerosis Postural instability Abnormality of the cerebral white matter Abnormality of brainstem morphology Decreased LDL cholesterol concentration Edema Strabismus Microcephaly Generalized hypotonia Impaired tandem gait Subcortical dementia Inertia Retrocollis Diffuse cerebellar atrophy Impaired distal vibration sensation Abnormal nerve conduction velocity Pollakisuria Proteinuria Poor fine motor coordination Saccadic smooth pursuit Bowel incontinence Abnormality of the thyroid gland Atrophy/Degeneration affecting the brainstem Bipolar affective disorder Urinary bladder sphincter dysfunction Action tremor Diffuse cerebral atrophy Olivopontocerebellar atrophy Astrocytosis Disinhibition Immunodeficiency Abnormality of the nervous system Dysmetria Dysdiadochokinesis Distal sensory impairment Kinetic tremor Brain atrophy Urinary incontinence Hypotension Memory impairment Intention tremor Limb ataxia Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Hypoalbuminemia Recurrent bacterial infections Developmental regression Premature ovarian insufficiency Hypocalcemia Apathy Lymphopenia Mask-like facies Impotence Agitation Global brain atrophy Hypertriglyceridemia Epidermal acanthosis Focal-onset seizure Stage 5 chronic kidney disease Ichthyosis Neuropathic arthropathy Cerebral palsy Alcoholism ST segment elevation Ventricular fibrillation Right bundle branch block Bundle branch block Decreased muscle mass Exertional dyspnea Abnormal EKG Myoglobinuria Upper limb muscle weakness Shoulder girdle muscle weakness T-wave inversion Neck flexor weakness Abdominal wall muscle weakness EMG: myopathic abnormalities Abnormal levels of creatine kinase in blood Cardiomyocyte hypertrophy Left ventricular septal hypertrophy Increased mitochondrial number Decreased muscle glycogen content Visual impairment Optic atrophy Respiratory insufficiency Visual loss Glaucoma Abnormality of the pinna Autistic behavior Ventricular arrhythmia Ventricular tachycardia Type II diabetes mellitus Metabolic acidosis Cerebellar hypoplasia Intellectual disability, moderate Postnatal growth retardation Type I diabetes mellitus Central hypothyroidism Elevated serum creatine phosphokinase Constipation Acidosis Elevated hepatic transaminase Limb muscle weakness Lower limb muscle weakness Astigmatism Increased serum lactate Scapular winging Oligohydramnios Cardiomegaly Left ventricular hypertrophy Amblyopia Exercise intolerance External ophthalmoplegia Progressive external ophthalmoplegia Respiratory distress Arrhythmia Vertigo Palpitations Foot dorsiflexor weakness Bilateral sensorineural hearing impairment Psychosis Hyperlipoproteinemia Insulin resistance Axial dystonia Infantile encephalopathy Fixed facial expression Neoplasm Anemia Arthralgia Joint stiffness Paresthesia Muscle cramps Abnormality of the skin Myocardial infarction Hoarse voice Oromandibular dystonia Reduced tendon reflexes Ragged-red muscle fibers Abnormality of mitochondrial metabolism Oral-pharyngeal dysphagia Coronary artery atherosclerosis Axonal degeneration Multiple lipomas Arthropathy Macrocytic anemia Lipoma Oligomenorrhea Gout Writer's cramp Parkinsonism with favorable response to dopaminergic medication Hallucinations Primary gonadal insufficiency Schizophrenia Congenital sensorineural hearing impairment Diabetes insipidus Abnormality of color vision Scotoma Optic neuropathy Severe vision loss Severe postnatal growth retardation Male hypogonadism Gastrointestinal dysmotility Abnormality of the upper urinary tract Central diabetes insipidus Moderate hearing impairment Torsion dystonia Spasticity Hypertonia Behavioral abnormality Difficulty walking Hyperlordosis Confusion Involuntary movements Dysphonia Spastic diplegia Gaze-evoked nystagmus Hyperactive deep tendon reflexes Upper motor neuron dysfunction Absent testis



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