Autoimmunity, and Spastic tetraplegia

Diseases related with Autoimmunity and Spastic tetraplegia

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


Top matches:

Medium 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

Medium match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

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Other less relevant matches:

Low match FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY


Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Low match SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY


Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY Is also known as proc deficiency, autosomal recessive|autosomal recessive thrombophilia due to pc deficiency|autosomal recessive thrombophilia due to congenital protein c deficiency|protein c deficiency, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Blindness
  • Abnormality of skin pigmentation
  • Tetraplegia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

Low match SJOGREN-LARSSON SYNDROME; SLS


Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

SJOGREN-LARSSON SYNDROME; SLS Is also known as ichthyosis, spastic neurologic disorder, and oligophrenia|faldh deficiency|fatty alcohol:nad+ oxidoreductase deficiency|fatty aldehyde dehydrogenase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SJOGREN-LARSSON SYNDROME; SLS

Low match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Low match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Low match 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD


DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

Low match CLASSIC MAPLE SYRUP URINE DISEASE


Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Top 5 symptoms//phenotypes associated to Autoimmunity and Spastic tetraplegia

Symptoms // Phenotype % cases
Tetraplegia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Spastic tetraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Hypertonia Spastic diplegia Ataxia Cerebral palsy Microcephaly Encephalopathy Hepatitis Encephalitis Fever Abnormality of the cerebral white matter Aspiration

Rare Symptoms - Less than 30% cases


Leukoencephalopathy Leukodystrophy Feeding difficulties in infancy Intellectual disability, profound Cerebral calcification Brain atrophy Irritability Thrombocytopenia Pancreatitis Acidosis Diarrhea Systemic lupus erythematosus Vomiting Blindness Cerebral edema Hallucinations Gliosis Coma Myopia Pallor Hyperkeratosis Photophobia Basal ganglia calcification Erythema Ichthyosis Growth delay Purpura Ventriculomegaly Cerebral atrophy Short stature Neonatal hypotonia Recurrent infections Aspiration pneumonia Dystonia Feeding difficulties Autoimmune hemolytic anemia Autoimmune thrombocytopenia Babinski sign Immunodeficiency Splenomegaly Muscular hypotonia Nystagmus Strabismus Otitis media Recurrent bacterial infections Abnormality of the skeletal system Cerebellar atrophy Failure to thrive Abnormal macular morphology Macular dystrophy Congenital ichthyosiform erythroderma Thoracic kyphosis Ecchymosis CNS demyelination Retinal pigment epithelial atrophy Generalized hyperkeratosis Retinal thinning Generalized ichthyosis Macular degeneration Opacification of the corneal epithelium Macular crystals Increased intracranial pressure Cataract Postural instability Flexion contracture Hernia Inguinal hernia Dry skin Generalized myoclonic seizures Asthma Erythroderma Vitreous hemorrhage Venous insufficiency Ketonuria Disseminated intravascular coagulation Peritonitis Multifocal seizures Recurrent deep vein thrombosis Abnormality of the cerebral vasculature Superficial thrombophlebitis Reduced protein C activity Priapism Increased level of hippuric acid in urine Episodic ataxia Warfarin-induced skin necrosis Paraparesis Ketoacidosis Hypercoagulability Deep venous thrombosis Ketosis Opisthotonus Abnormality of the nervous system Delayed myelination Impulsivity Astigmatism Growth abnormality Hypoplasia of dental enamel Spastic paraparesis Drusen High myopia Cerebral visual impairment Pseudobulbar signs Wide nasal ridge Nausea and vomiting Ophthalmoplegia Lethargy Anxiety Hypoglycemia Weight loss Apnea Choreoathetosis Respiratory failure Hyperactivity Nausea Osteoporosis Clonus Depressivity Headache Abnormality of mitochondrial metabolism Global brain atrophy Renal tubular acidosis Central hypotonia Central apnea Hyperlysinemia Respiratory acidosis Hypertension Everted upper lip vermilion Facial hypotonia Scaling skin Mandibular prognathia Abnormality of visual evoked potentials Decreased plasma free carnitine High palate Hyperreflexia Wide nasal bridge Talipes equinovarus Hepatic failure Hypoplasia of the corpus callosum Intellectual disability, severe Lactic acidosis Absent speech Coarse facial features Pulmonary embolism Wide mouth Short philtrum Spastic paraplegia Paraplegia Bulbous nose Inability to walk Narrow forehead Intellectual disability, progressive Drooling Infantile muscular hypotonia Adducted thumb Progressive spasticity Gangrene Hypopigmented skin patches on arms Aplasia/Hypoplasia of the skin Episodic fever Muscular hypotonia of the trunk Skin rash Severe global developmental delay Peripheral demyelination Abnormality of extrapyramidal motor function Postnatal microcephaly Progressive microcephaly Poor head control Petechiae Congenital glaucoma Prolonged neonatal jaundice Atrophy/Degeneration affecting the brainstem Progressive encephalopathy Hepatosplenomegaly Acrocyanosis Diffuse cerebral atrophy Morphological abnormality of the pyramidal tract Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Elevated hepatic transaminase Cerebral cortical atrophy Low-set ears Recurrent lower respiratory tract infections Delayed speech and language development Motor delay Tremor Behavioral abnormality Abnormal pyramidal sign Lymphoma Tetraparesis Recurrent urinary tract infections Sinusitis Lymphopenia Spastic tetraparesis Recurrent upper respiratory tract infections Recurrent viral infections Glaucoma Impaired T cell function Hypouricemia Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Hepatomegaly Dilatation Agenesis of corpus callosum Increased CSF interferon alpha Anemia Venous thrombosis Cough Immune dysregulation Spondylometaphyseal dysplasia Cellular immunodeficiency Tubulointerstitial fibrosis Decrease in T cell count Madelung deformity Progressive spastic quadriplegia Metaphyseal sclerosis Arthralgia/arthritis Visual impairment Gait disturbance Rigidity Polyneuropathy Barrel-shaped chest Foot dorsiflexor weakness Severe vision loss Increased CSF protein Abnormal posturing Abducens palsy Acute encephalopathy Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Acute necrotizing encephalopathy Abnormality of skin pigmentation Thin skin Juvenile rheumatoid arthritis Narrow nose Intellectual disability, mild Lymphadenopathy Recurrent respiratory infections Severe short stature Hypothyroidism Kyphoscoliosis Skeletal dysplasia Arthralgia Arthritis Hyperlordosis Respiratory tract infection Platyspondyly Micromelia Hemolytic anemia Irregular vertebral endplates Lumbar hyperlordosis Recurrent otitis media Abnormal lung morphology Rhizomelia Nephritis Rheumatoid arthritis Metaphyseal irregularity Combined immunodeficiency Restrictive ventilatory defect Hypermelanotic macule Scleroderma Recurrent sinusitis Vitiligo Elevated plasma branched chain amino acids



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