Immunodeficiency, and Dysarthria

Diseases related with Immunodeficiency and Dysarthria

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

Top matches:

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Other less relevant matches:

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium 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

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Dysarthria

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Dysarthria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Progressive cerebellar ataxia

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia Seizures Apraxia Telangiectasia Peripheral neuropathy Anemia Decreased antibody level in blood Sensorineural hearing impairment Hearing impairment Short stature Choreoathetosis Gait disturbance Failure to thrive Oculomotor apraxia Neoplasm Dystonia Muscle weakness Scoliosis Tremor Pes cavus Distal amyotrophy Hepatomegaly Skeletal muscle atrophy Myoclonus Dysmetria Respiratory tract infection Lymphopenia Microcephaly Recurrent respiratory infections Neurodegeneration Neutropenia Thrombocytopenia Splenomegaly Strabismus Gaze-evoked nystagmus Sensory axonal neuropathy Hyporeflexia Mental deterioration Areflexia Chorea Limb ataxia Sensory neuropathy

Rare Symptoms - Less than 30% cases

Muscular hypotonia Conjunctival telangiectasia Inguinal hernia Polyneuropathy Chronic hepatitis Unsteady gait Lymphoma Flexion contracture Mandibular prognathia Cutaneous photosensitivity Recurrent bacterial infections Abnormality of the liver Optic atrophy Type II diabetes mellitus Cardiomyopathy Peripheral axonal neuropathy Pancytopenia Abnormality of the skeletal system Abnormality of movement Distal muscle weakness Abnormal facial shape Generalized hypotonia Slurred speech IgE deficiency Otitis media Hemolytic anemia Truncal ataxia Hypercholesterolemia Neurological speech impairment Spinocerebellar tract degeneration Spasticity Hypometric saccades Babinski sign Pain Recurrent lower respiratory tract infections Hernia Midface retrusion Severe combined immunodeficiency Diabetes mellitus Cerebellar vermis atrophy Ventriculomegaly Combined immunodeficiency Hypoalbuminemia Delayed speech and language development Carcinoma Cataract Bronchiectasis Increased sensitivity to ionizing radiation Impaired smooth pursuit Dysdiadochokinesis IgA deficiency Anxiety Leukopenia Hepatocellular carcinoma Abnormal cerebellum morphology Abnormality of the nervous system Hypermetropia Renal insufficiency Growth delay Hyperreflexia Epicanthus Motor delay Myopia Macrocephaly Depressed nasal bridge Intellectual disability, mild Frontal bossing Talipes equinovarus Short neck Hydrocephalus Intellectual disability, severe Myopathy Abnormality of the dentition Attention deficit hyperactivity disorder Behavioral abnormality Long neck Kyphosis Malar flattening Cerebral atrophy Depressivity Delayed skeletal maturation Hypertelorism Bilateral cryptorchidism Gastrointestinal stroma tumor Pigmentary retinopathy Abnormal lung morphology Broad-based gait Prominent forehead Epidermal acanthosis Hypotelorism Small for gestational age Sloping forehead Bradykinesia Limb undergrowth Insulin resistance Decreased testicular size Dilated cardiomyopathy Convex nasal ridge Renal agenesis Broad nasal tip Triangular face Synophrys Falls Prominent nasal bridge Short philtrum Multinodular goiter Truncal obesity Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Long nose Cortical gyral simplification Hypergonadotropic hypogonadism Ectopic kidney High pitched voice Long face Unilateral renal agenesis Postural tremor Goiter Acanthosis nigricans Short chin Bone marrow hypocellularity Renal hypoplasia Gingival overgrowth Macrotia Dysostosis multiplex Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Delusions Thoracolumbar kyphosis Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Abnormal echocardiogram Vacuolated lymphocytes Bowel incontinence Decreased pulmonary function Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Cranial hyperostosis Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Neurodevelopmental delay Open bite Kyphoscoliosis Abnormality of the cerebral white matter Gliosis Macroglossia Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Genu valgum Abnormality of the foot Corneal opacity Dental malocclusion Broad forehead Pectus carinatum Arthritis Hepatosplenomegaly Umbilical hernia Coarse facial features Skeletal dysplasia Osteopenia Delayed myelination Hip dysplasia Bowing of the legs Spastic gait Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Narrow palate Low anterior hairline Hallucinations Peripheral demyelination Retinopathy Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Optic disc pallor Abnormal pyramidal sign Abnormality of the immune system Sparse hair Clumsiness Agammaglobulinemia Gingivitis IgG deficiency Encephalitis Leukoencephalopathy Chronic diarrhea Involuntary movements Recurrent otitis media Stomatitis Sepsis Autoimmunity Weight loss Diarrhea Fever Hyperammonemia Pancreatitis Cholangitis IgM deficiency Dehydration Opportunistic infection Asthma Erythema Conductive hearing impairment Gastroesophageal reflux Brachydactyly High palate Impaired memory B cell generation Agranulocytosis Dysgammaglobulinemia Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Increased IgM level Anorexia Coma Eczema Decreased number of large peripheral myelinated nerve fibers Global brain atrophy Steppage gait Sensorimotor neuropathy Brain atrophy Limb fasciculations Peripheral axonal degeneration Facial grimacing Progressive external ophthalmoplegia Impaired vibration sensation in the lower limbs Axonal degeneration Impaired vibratory sensation External ophthalmoplegia Fasciculations Distal sensory impairment Ophthalmoplegia Dementia Axonal loss Distal lower limb muscle weakness Nausea and vomiting Photophobia Lethargy Stroke Abdominal pain Respiratory distress Feeding difficulties Progressive sensorineural hearing impairment Progressive muscle weakness Dysphagia Spastic dysarthria Medial flaring of the eyebrow Nephronophthisis Lower limb spasticity Frequent falls Cerebellar vermis hypoplasia Impaired distal proprioception Pain insensitivity Sensory impairment Inflammatory abnormality of the skin Postnatal growth retardation Abnormality of chromosome stability Aplasia/Hypoplasia of the thymus Female hypogonadism Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Cellular immunodeficiency Non-Hodgkin lymphoma Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Mucosal telangiectasiae Progressive spinal muscular atrophy Chromosome breakage Clinodactyly Rigidity Deeply set eye High forehead Hypothyroidism Micropenis Hypogonadism Severe short stature Obesity Immunoglobulin IgG2 deficiency Long philtrum Hypoplasia of the corpus callosum Intrauterine growth retardation Cryptorchidism Defective B cell differentiation Interosseus muscle atrophy Decreased/absent ankle reflexes Recurrent bronchitis Acute lymphoblastic leukemia Vasculitis Cortical myoclonus Hepatitis Abnormality of eye movement Delayed puberty Leukemia Elevated hepatic transaminase Difficulty walking Pneumonia Autoimmune neutropenia Cafe-au-lait spot Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Atopic dermatitis Glomerulonephritis Recurrent skin infections Narrow palpebral fissure Intention tremor Sinusitis Hypopigmentation of hair Premature graying of hair Hodgkin lymphoma Prematurely aged appearance Myeloid leukemia Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Glucose intolerance Abnormal vertebral morphology Athetosis Spinal muscular atrophy Polycystic ovaries Breast carcinoma Cerebral palsy Reduced tendon reflexes Recurrent pneumonia Abnormality of the hair Spinocerebellar tract disease in lower limbs


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