Immunodeficiency, and Leukodystrophy

Diseases related with Immunodeficiency and Leukodystrophy

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

Top matches:

X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Other less relevant matches:

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

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

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

Top 5 symptoms//phenotypes associated to Immunodeficiency and Leukodystrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Recurrent infections Intellectual disability, mild Muscular hypotonia Macrocephaly Feeding difficulties Optic atrophy Strabismus Microcephaly Ventriculomegaly Abnormality of the dentition Thrombocytopenia Ataxia Spasticity Behavioral abnormality Cognitive impairment Visual impairment Pancytopenia Prominent forehead Failure to thrive Nystagmus Absent speech Ventricular septal defect Ptosis Low-set ears Deeply set eye Inguinal hernia Malar flattening Scoliosis Motor delay EEG abnormality Long philtrum Peripheral neuropathy Wide nasal bridge Neurological speech impairment Pain Epicanthus

Rare Symptoms - Less than 30% cases

Osteopenia Thin upper lip vermilion Vomiting Intellectual disability, moderate Renal insufficiency High forehead Hepatitis Dolichocephaly Hydronephrosis Constipation Recurrent respiratory infections Hip dysplasia Nausea and vomiting Agenesis of corpus callosum Postural instability Clinodactyly of the 5th finger Diarrhea Patent ductus arteriosus Hernia Cerebral atrophy Facial asymmetry Hepatomegaly Decreased antibody level in blood Chronic diarrhea Umbilical hernia CNS hypomyelination Macrotia Midface retrusion Short chin Gait disturbance Delayed speech and language development Hyperreflexia Anxiety Respiratory insufficiency Areflexia Hyporeflexia Babinski sign Neonatal hypotonia Aggressive behavior Recurrent upper respiratory tract infections Cerebral visual impairment Cerebral cortical atrophy Otitis media Impaired pain sensation Dehydration Anemia Pachygyria Amblyopia Multicystic kidney dysplasia Heart murmur Flat occiput Prominent supraorbital ridges Intellectual disability, severe Diastasis recti Atrial septal defect Hypohidrosis Tall stature Dental malocclusion Thick eyebrow Hypermetropia Hypoplasia of the corpus callosum Increased intracranial pressure Delayed CNS myelination Hydrocephalus Pneumonia Visual loss Short stature Gait ataxia Limb ataxia Hypertelorism Paraparesis Mental deterioration Cataract Flexion contracture Hypogonadism Depressed nasal bridge Abnormality of the skeletal system Attention deficit hyperactivity disorder Abnormality of the gingiva Abnormality of the cerebral white matter Psychosis Intrauterine growth retardation Hyperactivity Peripheral demyelination Frontal bossing Short neck Talipes equinovarus Neurodegeneration Bowel incontinence Irritability Synovial hypertrophy Flattened moderately deformed vertebrae Obesity Spinocerebellar tract disease in lower limbs Gastroesophageal reflux Autism Abnormality of the pinna Hyperhidrosis Headache Sensory neuropathy Progressive joint destruction Unsteady gait Abnormality of dental structure Renal cyst Dental crowding Generalized abnormality of skin Nephrolithiasis Long eyelashes Renal dysplasia Abnormality of the genital system Broad-based gait Decreased pulmonary function Vesicoureteral reflux Full cheeks Sleep disturbance Antineutrophil antibody positivity High, narrow palate Thick vermilion border Hypoplastic inferior ilia Bulbous nose Hepatic failure Anhidrosis Abnormality of the ilium Autistic behavior Protruding ear Abnormality of joint mobility Keratitis Premature loss of teeth High palate Narrow mouth Large fontanelles Cholestasis Hypotelorism Impaired temperature sensation Painless fractures due to injury Short foot Arthrogryposis multiplex congenita Prominent nasal bridge Acral ulceration Metabolic ketoacidosis Arnold-Chiari malformation Chronic metabolic acidosis Cerebellar hemorrhage Abnormal globus pallidus morphology Tubulointerstitial abnormality Methylmalonic acidemia Hyperglycinemia Homocystinuria Methylmalonic aciduria Organic aciduria Pain insensitivity Adducted thumb Osteomyelitis Postprandial hyperglycemia Increased urinary sedoheptulose Abnormality of globe location Prematurely aged appearance Episodic fever Neonatal asphyxia Pointed chin Abnormal CNS myelination Self-mutilation Poor wound healing Hypochromic anemia Portal hypertension Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Breech presentation Severe postnatal growth retardation Shallow orbits Steatorrhea Hyperglycemia Lymphedema Recurrent skin infections Accelerated skeletal maturation Highly arched eyebrow Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Craniofacial hyperostosis Abnormality of the rib cage Gingival overgrowth Retinal degeneration Confusion Abnormal cornea morphology Dysmetria Genu valgum Abnormality of the foot Corneal opacity Ketonuria Pectus carinatum Respiratory tract infection Bowing of the long bones Spondylolisthesis Synovitis Bowing of the legs Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Severe sensorineural hearing impairment Femoral bowing Patellar dislocation Neurodevelopmental delay Open bite Chronic otitis media Hallucinations Delusions Impaired smooth pursuit Dysostosis multiplex Widely spaced teeth Recurrent bacterial infections Hydrocele testis Narrow palate Low anterior hairline Reduced ejection fraction Spastic gait Abnormality of the helix Arthritis Hepatosplenomegaly Sacral dimple Poor eye contact Periorbital fullness Concave nasal ridge Heat intolerance Cerebral dysmyelination Bruxism Synostosis of joints Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Oligosacchariduria Weak cry Toenail dysplasia Cellulitis 2-3 toe syndactyly Hypoplastic toenails Large hands Polycystic kidney dysplasia Spondylolysis Increased vertebral height Poor head control Increased hepatic glycogen content Abnormality of the outer ear Episodic vomiting Cerebellar cortical atrophy Coarse facial features Long ear Abnormal echocardiogram Skeletal dysplasia Kyphoscoliosis Thoracolumbar kyphosis Mandibular prognathia Vacuolated lymphocytes Delayed skeletal maturation Depressivity Cranial hyperostosis Kyphosis Splenomegaly Hyperorality Cerebellar atrophy Myopathy Skeletal muscle atrophy Myopia Dysarthria Muscle weakness Retinal thinning Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Broad forehead Overlapping fingers Tubulointerstitial nephritis Telecanthus Leukemia Finger syndactyly Skin rash Abnormal cardiac septum morphology Coloboma Craniosynostosis Postnatal growth retardation Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Hypoglycemia Hip dislocation Pes planus Retrognathia Hypothyroidism Osteoporosis Abnormal heart morphology Clinodactyly Pectus excavatum Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Syndactyly Small for gestational age Toe syndactyly Congestive heart failure Microdontia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Short toe Sinusitis Short thumb Abnormal form of the vertebral bodies Coarctation of aorta Eczema Growth hormone deficiency Narrow chest Webbed neck Intestinal malrotation Premature birth Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Tachycardia Anal atresia Smooth philtrum Talipes Short nose Anteverted nares Azoospermia Hypotension Adrenal insufficiency Emotional lability Personality changes Abnormality of mitochondrial metabolism Incoordination Slurred speech Spastic paraparesis Truncal ataxia Hyperpigmentation of the skin Hemiparesis Urinary incontinence Abnormality of color vision Abnormal cerebellum morphology Polyneuropathy Retinal dystrophy Paraplegia Spastic paraplegia Paralysis Reduced visual acuity Dementia Encephalopathy Blindness Edema Impotence Axonal degeneration Downslanted palpebral fissures Progressive spastic paraparesis Brachydactyly Cryptorchidism Abnormal facial shape Micrognathia Cone monochromacy Elevated long chain fatty acids Blue cone monochromacy Monochromacy Psychotic episodes Mania Decreased circulating aldosterone level Bulbar palsy Myelopathy Vegetative state Cerebral edema Spinocerebellar tract degeneration Achalasia Tubular atrophy Dyschromatopsia Adrenal hypoplasia Urinary bladder sphincter dysfunction Loss of speech Primary adrenal insufficiency Holoprosencephaly Abnormal palate morphology Macrocytic anemia Dysphagia Low frustration tolerance Gout Arnold-Chiari type I malformation Decreased nerve conduction velocity Drooling Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Elevated serum creatine phosphokinase Recurrent aphthous stomatitis Muscle mounding Recurrent lower respiratory tract infections Severe combined immunodeficiency Severe vision loss Cortical gyral simplification Combined immunodeficiency Cerebellar vermis hypoplasia Brain atrophy Sepsis Micropenis Abnormal muscle tone Congenital microcephaly Pancreatic fibrosis Increased urinary hypoxanthine Absence seizures Nephropathy Ischemic stroke Hyperammonemia Leukopenia Spastic tetraparesis Pancreatitis Choreoathetosis Tetraparesis Aciduria Coma Metabolic acidosis Stage 5 chronic kidney disease Parietal cortical atrophy Lethargy Stroke Abnormality of the kidney Acidosis Diabetes mellitus Dystonia Cardiomyopathy Respiratory distress Fatigue Fever Spinal cord posterior columns myelin loss Limb hypertonia Postnatal microcephaly Tachypnea Slender finger Eyelid coloboma Chronic constipation Retinal dysplasia Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Partial agenesis of the corpus callosum Ectopic anus Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hammertoe Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Duodenal atresia Mitral stenosis Muscular hypotonia of the trunk Macular hypoplasia Hypertonia Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Clitoral hypoplasia Broad hallux phalanx Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Decreased number of small peripheral myelinated nerve fibers


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