Autoimmunity, and Distal sensory impairment

Diseases related with Autoimmunity and Distal sensory impairment

In the following list you will find some of the most common rare diseases related to Autoimmunity and Distal sensory impairment that can help you solving undiagnosed cases.


Top matches:

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

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Other less relevant matches:

Low match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME


Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C


Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as charcot-marie-tooth neuropathy, dominant intermediate c|di-cmtc|cmtdic

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Distal muscle weakness
  • Abnormality of the foot
  • Distal amyotrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Low match NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic|hsn1c|hsn ic|hsan ic

Related symptoms:

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

Top 5 symptoms//phenotypes associated to Autoimmunity and Distal sensory impairment

Symptoms // Phenotype % cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Sensory impairment Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Ataxia Gait disturbance Sensory neuropathy Seizures Paralysis Hyporeflexia Areflexia

Rare Symptoms - Less than 30% cases


Ophthalmoplegia Dysphagia Respiratory failure Global developmental delay Paraplegia Sensory axonal neuropathy Short stature Scoliosis Pain Cognitive impairment Generalized hypotonia Hyperreflexia Peripheral axonal neuropathy Abnormality of the foot Distal amyotrophy Paresthesia Osteomyelitis Distal sensory loss of all modalities Autoamputation Anemia Peripheral demyelination Neutropenia Hemolytic anemia Erythema Sensorineural hearing impairment Abnormal facial shape High palate Respiratory tract infection Immunodeficiency Abnormality of the nervous system Conductive hearing impairment Recurrent infections Gastroesophageal reflux Myoclonus Brachydactyly Abnormality of the skeletal system Lymphoma Recurrent respiratory infections Asthma Allergic rhinitis Eczema Autoimmune neutropenia Dysesthesia Anhidrosis Abnormal autonomic nervous system physiology Skin ulcer Sensorimotor neuropathy Cerebral palsy Nail dysplasia Spastic paraplegia Nail dystrophy Pes cavus Cortical myoclonus Vasculitis in the skin Inflammatory abnormality of the skin Membranoproliferative glomerulonephritis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Recurrent skin infections Leukopenia Narrow palpebral fissure Vasculitis Lymphopenia Bronchiectasis Failure to thrive Impaired vibratory sensation Hearing impairment Vitamin B12 deficiency Respiratory insufficiency Acute demyelinating polyneuropathy Bulbar palsy Ophthalmoparesis Esotropia Tetraplegia Polyneuropathy Limb muscle weakness Ptosis Malabsorption of Vitamin B12 Poikiloderma Visual loss Megaloblastic anemia Thyroiditis Confusion Malabsorption Proteinuria Dementia Hand muscle atrophy Decreased nerve conduction velocity Proximal muscle weakness Arrhythmia Motor delay Vomiting Nausea Intellectual disability Abnormality of movement Axonal regeneration Upper limb muscle weakness Onion bulb formation Abnormality of central motor conduction Limb dysmetria Positive Romberg sign Increased serum pyruvate ST segment elevation Hashimoto thyroiditis Dysmetria Headache Neuronal loss in central nervous system Behavioral abnormality Myelitis Recurrent singultus Functional abnormality of the bladder CSF pleocytosis Optic neuritis Abnormality of brain morphology Neuritis Ocular pain Autoimmune antibody positivity Hyperkinesis Hand clenching



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Cutaneous photosensitivity, related diseases and genetic alterations

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