Hyperreflexia, and Combined immunodeficiency

Diseases related with Hyperreflexia and Combined immunodeficiency

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Other less relevant matches:

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

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

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

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

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Combined immunodeficiency

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent infections Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Combined immunodeficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Cerebellar atrophy Decreased antibody level in blood Scoliosis Hearing impairment Recurrent respiratory infections Failure to thrive Cognitive impairment Microcephaly Growth delay Pneumonia Muscle weakness Gait ataxia Dysarthria Lymphopenia Skeletal muscle atrophy Hyporeflexia Behavioral abnormality Sensorineural hearing impairment Progressive microcephaly Hypertelorism Feeding difficulties in infancy Spasticity Cataract Recurrent upper respiratory tract infections Abnormal facial shape Coarse facial features Epicanthus Areflexia Tremor Optic atrophy Ventriculomegaly Depressed nasal bridge Anemia High palate Strabismus Neoplasm Progressive cerebellar ataxia Severe combined immunodeficiency Neutropenia Gastroesophageal reflux Neurodevelopmental delay Pancytopenia Leukopenia Limb ataxia

Rare Symptoms - Less than 30% cases

Abnormality of movement Abnormal cornea morphology Narrow palate Athetosis Patellar dislocation Babinski sign Hyperactivity Facial grimacing Absent speech Intellectual disability, mild Dysphagia Immunoglobulin IgG2 deficiency Decreased proportion of CD4-positive T cells Cellular immunodeficiency Hypoplasia of the thymus Severe sensorineural hearing impairment Hypopigmentation of hair Bronchitis Recurrent bacterial infections Abnormality of the immune system Bronchiectasis Low anterior hairline Abnormality of the dentition Cafe-au-lait spot Oculomotor apraxia Delayed speech and language development Choreoathetosis Type II diabetes mellitus Apraxia Chorea Polyneuropathy Distal amyotrophy Unsteady gait Neurological speech impairment Leukemia Frontal bossing Intellectual disability, severe Delayed skeletal maturation Otitis media Distal muscle weakness Aspiration Mental deterioration Anxiety Thick eyebrow Dystonia Gait disturbance Highly arched eyebrow Flexion contracture Truncal ataxia Dental malocclusion Lymphoma Myoclonus Abnormality of the skeletal system Increased body weight Telangiectasia Progressive neurologic deterioration Abnormality of the nervous system Respiratory distress Muscular hypotonia of the trunk Low-set ears Ptosis Micrognathia Postnatal growth retardation Skeletal dysplasia Cerebral cortical atrophy Brachydactyly Pectus excavatum Dislocated radial head Inflammatory abnormality of the skin Hypospadias Kyphoscoliosis Sepsis EEG abnormality Delayed myelination Single transverse palmar crease Prominent nose Kyphosis Hypertonia Agenesis of corpus callosum Myopathy Eosinophilia Abnormality of the ilium Craniofacial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Atrial septal defect Synovitis Syndactyly Abnormality of the rib cage Flattened moderately deformed vertebrae Downslanted palpebral fissures Spondylolisthesis Abnormality of the helix Patent ductus arteriosus Abnormality of dental structure Reduced ejection fraction Hydrocele testis Dysostosis multiplex Progressive joint destruction Ventricular septal defect Wide nasal bridge Hypoplastic inferior ilia Cryptorchidism Decreased pulmonary function Generalized abnormality of skin Abnormality of joint mobility Increased hepatic glycogen content Increased vertebral height Impaired smooth pursuit Antineutrophil antibody positivity Spondylolysis Cranial hyperostosis Spinocerebellar tract disease in lower limbs Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Synovial hypertrophy Hypertension Abnormality of the gingiva Long ear Abnormality of the sternum Delusions Pectus carinatum Platyspondyly Anal atresia Retinal degeneration Confusion Dysmetria Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Corneal opacity Broad forehead Arthritis Macroglossia Hepatosplenomegaly Umbilical hernia Osteopenia Macrotia Mandibular prognathia Prominent forehead Broad nasal tip Inguinal hernia Depressivity Hernia Midface retrusion Neurodegeneration Gliosis Aseptic necrosis Widely spaced teeth Limb dystonia Thickened calvaria Femoral bowing Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Spastic gait Craniosynostosis Hallucinations Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Psychosis Optic disc pallor Peripheral demyelination Hip dysplasia Arrhythmia Glaucoma Abnormal heart morphology Keloids Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Duane anomaly Papillary cystadenoma of the epididymis Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Tethered cord Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Medulloblastoma Enlarged tonsils High axial triradius Avascular necrosis of the capital femoral epiphysis Fasciculations Peripheral axonal degeneration Hypometric saccades Decreased number of large peripheral myelinated nerve fibers Progressive external ophthalmoplegia Gaze-evoked nystagmus Axonal degeneration Sensory axonal neuropathy Impaired vibratory sensation Hypoalbuminemia External ophthalmoplegia Hypercholesterolemia Sensory neuropathy Abnormal number of teeth Distal sensory impairment Peripheral axonal neuropathy Ophthalmoplegia Dementia Pes cavus Cortical gyral simplification Epileptic encephalopathy Febrile seizures Encephalopathy Hypoplasia of the corpus callosum Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Pheochromocytoma Abnormality of refraction Clinodactyly of the 5th finger Abnormality of the kidney Low posterior hairline Coarctation of aorta Convex nasal ridge Hypoplasia of the maxilla Recurrent fractures Iris coloboma Hirsutism Joint hypermobility Pulmonic stenosis Coloboma Abnormality of the pinna Intellectual disability, moderate Aganglionic megacolon Joint laxity Deeply set eye Thin upper lip vermilion Pes planus Retrognathia Polyhydramnios Proptosis Autism Narrow mouth Polydactyly Malar flattening Constipation Mitral regurgitation Broad thumb Flared iliac wings Neurofibromas Dyslexia Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Poor coordination Overweight Shawl scrotum Neuroblastoma Congenital glaucoma Hypoplasia of dental enamel Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Bicuspid aortic valve Spina bifida occulta Wide anterior fontanel Exotropia Stereotypy Dental crowding Long eyelashes Cerebral atrophy Myopia Splenomegaly Severe global developmental delay Arnold-Chiari type I malformation Decreased nerve conduction velocity Drooling Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Aggressive behavior Neonatal hypotonia Joint stiffness Elevated serum creatine phosphokinase Dilated cardiomyopathy Low frustration tolerance Visual loss Congenital cataract Cleft upper lip Respiratory insufficiency Polymicrogyria Visual impairment Pulmonary hypoplasia Wide nose Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Gout Pancreatic fibrosis Thick vermilion border Nausea and vomiting Macrocytic anemia Basal ganglia calcification Cerebellar hypoplasia Anorexia Chronic diarrhea Recurrent urinary tract infections Rod-cone dystrophy Cerebral calcification Focal-onset seizure Dyskinesia Malabsorption Pallor Muscle mounding Irritability Respiratory failure Thrombocytopenia Acidosis Diarrhea Vomiting Hypertrophic cardiomyopathy Cleft lip Spinal cord posterior columns myelin loss Parietal cortical atrophy Increased urinary hypoxanthine Penile hypospadias Ureteral atresia Proximal amyotrophy Poor suck Severe failure to thrive Aspiration pneumonia IgG deficiency Triangular face Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Albinism Congenital sensorineural hearing impairment Adducted thumb Ocular albinism Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Narrow forehead Hypotelorism Ventricular hypertrophy Cerebellar vermis hypoplasia Decreased liver function Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Heterotopia Depressed nasal tip Renal tubular dysfunction Aplasia/Hypoplasia of the macula High, narrow palate Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Abnormality of the mandible Fair hair Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Sleep disturbance Hypopigmentation of the skin Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Drowsiness Megaloblastic anemia Full cheeks IgA deficiency Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Acute lymphoblastic leukemia Hepatocellular carcinoma Hodgkin lymphoma Prematurely aged appearance Chronic lymphatic leukemia Myeloid leukemia Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Glucose intolerance Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Absent Achilles reflex Abnormality of chromosome stability Reduced tendon reflexes Interosseus muscle atrophy Hydrocephalus Short neck Talipes equinovarus Limb undergrowth Macrocephaly Open mouth Hepatomegaly Generalized-onset seizure Pain Defective B cell differentiation IgE deficiency Decreased/absent ankle reflexes Conjunctival telangiectasia Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Cerebral palsy Recurrent pneumonia Cheilitis Congestive heart failure Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Atopic dermatitis Glomerulonephritis Recurrent skin infections Narrow palpebral fissure Vasculitis Eczema Sensory impairment Anteverted nares Asthma Hemolytic anemia Erythema Conductive hearing impairment Long philtrum Dilatation Folate-responsive megaloblastic anemia Glossitis Folate deficiency Oral ulcer Normocytic anemia Cardiomyopathy Feeding difficulties Coxa valga Abnormal cerebellum morphology Abnormality of the hair Abnormal vertebral morphology Sinusitis Epiphyseal dysplasia Erythroderma Opisthotonus Intention tremor Disproportionate short stature Metaphyseal dysplasia Hepatitis Hepatic cysts Delayed ossification of carpal bones Diabetes mellitus Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Abnormality of eye movement Delayed puberty Cervical instability Severe platyspondyly Abnormality of the liver Cleft palate Carcinoma Elevated hepatic transaminase Difficulty walking Limb fasciculations


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