Autoimmunity, and Neonatal hypotonia

Diseases related with Autoimmunity and Neonatal hypotonia

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


Top matches:

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 MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Low match PERMANENT NEONATAL DIABETES MELLITUS


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

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low match TRANSIENT NEONATAL DIABETES MELLITUS


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

Low match MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Feeding difficulties
  • Respiratory insufficiency
  • Myopathy
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Top 5 symptoms//phenotypes associated to Autoimmunity and Neonatal hypotonia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hashimoto thyroiditis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Neonatal hypotonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Glycosuria Arthrogryposis multiplex congenita Dyspnea Respiratory failure Feeding difficulties Hearing impairment Splenomegaly Intellectual disability Ataxia Motor delay

Rare Symptoms - Less than 30% cases


Prominent metopic ridge Renal tubular dysfunction Cyanosis Hepatitis Recurrent bacterial infections Ketonuria Autoimmune antibody positivity Abnormal heart morphology Systemic lupus erythematosus Hypovolemia Pneumonia Contractures of the joints of the lower limbs Hemolytic anemia Immunodeficiency Myopathy Anemia Raynaud phenomenon Pure red cell aplasia Asthma Hepatomegaly Diarrhea Diabetes mellitus Abnormality of the upper urinary tract Neurodevelopmental delay Respiratory distress Intrauterine growth retardation Weight loss Generalized tonic-clonic seizures Downturned corners of mouth Dysarthria Coma Muscle weakness Generalized myoclonic seizures Ophthalmoplegia Behavioral abnormality Recurrent lower respiratory tract infections Hyperglycemia Bilateral ptosis Apraxia Dehydration Dysphagia Autoimmune hemolytic anemia Lymphopenia Sinusitis Lymphoma Spastic tetraparesis Recurrent upper respiratory tract infections Retinopathy Recurrent urinary tract infections Parathyroid hyperplasia Tetraparesis Spastic tetraplegia Otitis media Peripheral axonal neuropathy Tetraplegia Abnormal pyramidal sign Microalbuminuria Babinski sign Tremor Delayed speech and language development Primary hyperparathyroidism Spasticity Reduced pancreatic beta cells Parathyroid adenoma Abnormality of calcium-phosphate metabolism Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Intellectual disability, severe Brain abscess Spastic diplegia Premature skin wrinkling Aortic aneurysm Stridor Heart murmur Emphysema Infantile spasms Abnormal heart valve morphology Prematurely aged appearance Aortic root aneurysm Pulmonary artery stenosis Heart block Aortic dissection Right ventricular hypertrophy Upper airway obstruction Venous thrombosis Subglottic stenosis Uterine prolapse Bowel diverticulosis Aortic rupture Repeated pneumothoraces Insulin resistance Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Respiratory insufficiency Redundant skin Cutis laxa Autoimmune thrombocytopenia Renal insufficiency Recurrent viral infections Impaired T cell function Hypouricemia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Elevated circulating parathyroid hormone level Lymph node hypoplasia Abnormality of B cell physiology Hypertelorism Fatigue Dilatation Aortic regurgitation Hernia Inguinal hernia Umbilical hernia Skin rash Pulmonic stenosis Joint hyperflexibility Full cheeks Coarctation of aorta Ventricular hypertrophy Mitral regurgitation Abnormality of the face Bronchiectasis Hoarse voice Hyperphosphaturia Short stature Neoplasm of the endocrine system Fatigable weakness Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Poor suck Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Abnormality of the immune system Weak cry Hyperthyroidism Primary adrenal insufficiency Psychosis Acrocyanosis Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Diplopia Generalized muscle weakness Single fiber EMG abnormality Positive Romberg sign Cognitive impairment Peripheral neuropathy Gait disturbance Headache Areflexia Abnormality of movement Dysmetria Impaired vibratory sensation Sensory axonal neuropathy ST segment elevation Increased serum pyruvate Limb dysmetria Tapered finger Abnormality of central motor conduction Strabismus Ptosis Fever Polyhydramnios Rigidity Proximal muscle weakness Apnea Respiratory tract infection Paralysis Paresthesia Muscle specific kinase antibody positivity Abnormal facial shape Calcinosis Recurrent fractures Abnormality of dental enamel Sarcoma Anhidrosis Episodic fever Hypoplasia of the iris Amelogenesis imperfecta Intermittent diarrhea Neoplasm Constipation Feeding difficulties in infancy Narrow chest Abnormality of the metaphysis Hypohidrosis Aminoaciduria Tachypnea Hypercalciuria Hypercalcemia Polydipsia Metaphyseal irregularity Polyuria Hypophosphatemia Abnormality of the thyroid gland Hyperparathyroidism Thyroiditis Recurrent pneumonia Hypoplasia of dental enamel Low-set ears Type I diabetes mellitus Macrocephaly Frontal bossing Clinodactyly Posteriorly rotated ears Proptosis Hypothyroidism Camptodactyly Dolichocephaly Malabsorption Abnormal lung morphology Chronic diarrhea Short chin Nephrotic syndrome Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Recurrent infections Thrombocytopenia Hepatosplenomegaly Lymphadenopathy Nail dysplasia Eczema



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