Immunodeficiency, and Abnormality of the cerebral white matter

Diseases related with Immunodeficiency and Abnormality of the cerebral white matter

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

Top matches:

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

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

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

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME Is also known as vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Low match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Abnormality of the cerebral white matter

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Abnormality of the cerebral white matter. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Pneumonia Recurrent infections Generalized hypotonia Hearing impairment Failure to thrive Growth delay Short stature Visual impairment Spasticity Anemia Abnormal facial shape Ataxia Absent speech Diarrhea Combined immunodeficiency

Rare Symptoms - Less than 30% cases

Recurrent bacterial infections Cerebral cortical atrophy Severe combined immunodeficiency Sensorineural hearing impairment Hepatomegaly Arthritis Restrictive ventilatory defect Blindness EEG abnormality Low-set ears Muscular hypotonia of the trunk Recurrent sinusitis Tetraplegia Cerebral visual impairment CNS hypomyelination Abnormal lung morphology Leukopenia Intrauterine growth retardation Abnormality of the skeletal system Emotional lability Cortical gyral simplification Cerebellar atrophy Spastic tetraplegia Intellectual disability, mild Lymphopenia Decreased antibody level in blood Absence seizures Neoplasm Peripheral neuropathy Ventriculomegaly Intellectual disability, severe IgA deficiency Behavioral abnormality Hyperactivity Polyneuropathy Encephalopathy Gait ataxia Paraparesis Psychosis Abnormality of color vision Hyperpigmentation of the skin Impotence Adrenal insufficiency Limb ataxia Neurodegeneration Hemiparesis Abnormal cerebellum morphology Leukodystrophy Personality changes Urinary incontinence Spastic paraparesis Hypotension Abnormality of mitochondrial metabolism Peripheral demyelination Incoordination Slurred speech Truncal ataxia Type II transferrin isoform profile Retinal dystrophy Proximal tubulopathy Abnormal bleeding Focal-onset seizure Hip dysplasia Decreased fetal movement Pancytopenia Cholestasis Chronic diarrhea Hypohidrosis Hyperbilirubinemia Abnormal intestine morphology Inflammation of the large intestine Loss of consciousness Neurodevelopmental delay Abnormal cortical gyration Impaired T cell function Paraplegia Dementia Spastic paraplegia Attention deficit hyperactivity disorder Paralysis Mental deterioration Reduced visual acuity Hypogonadism Visual loss Micronodular cirrhosis Edema Ventricular septal defect Cognitive impairment Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Bowel incontinence Cone monochromacy Axonal degeneration Autoimmune hemolytic anemia Lumbar hyperlordosis Recurrent otitis media Rhizomelia Purpura Encephalitis Systemic lupus erythematosus Nephritis Rheumatoid arthritis Metaphyseal irregularity Spastic diplegia Hypermelanotic macule Scleroderma Basal ganglia calcification Autoimmune thrombocytopenia Cerebral calcification Vitiligo Irregular vertebral endplates Narrow nose Barrel-shaped chest Juvenile rheumatoid arthritis Immune dysregulation Spondylometaphyseal dysplasia Cellular immunodeficiency Tubulointerstitial fibrosis Decrease in T cell count Madelung deformity Progressive spastic quadriplegia Metaphyseal sclerosis Arthralgia/arthritis Hepatitis Hemolytic anemia Bulbar palsy Psychotic episodes Primary adrenal insufficiency Loss of speech Urinary bladder sphincter dysfunction Adrenal hypoplasia Dyschromatopsia Tubular atrophy Achalasia Spinocerebellar tract degeneration Cerebral edema Vegetative state Myelopathy Decreased circulating aldosterone level Progressive spastic paraparesis Mania Monochromacy Lymphadenopathy Blue cone monochromacy Elevated long chain fatty acids Postaxial polydactyly Recurrent respiratory infections Severe short stature Hypothyroidism Kyphoscoliosis Skeletal dysplasia Arthralgia Hyperlordosis Respiratory tract infection Autoimmunity Platyspondyly Micromelia Hepatic steatosis Recurrent viral infections Cirrhosis Increased body weight Cerebellar vermis hypoplasia Pachygyria Short chin Severe vision loss Recurrent lower respiratory tract infections Overlapping fingers Recurrent aphthous stomatitis Splenomegaly Abnormality of the nervous system Autistic behavior Neutropenia Increased bone mineral density Increased antibody level in blood Sepsis Enlarged kidney Anisocytosis Poikilocytosis Extramedullary hematopoiesis Giant platelets Congenital neutropenia Myelofibrosis Hypertelorism Micrognathia Abnormality of the dentition Hernia Agenesis of corpus callosum Posteriorly rotated ears Brain atrophy Deeply set eye Narrow mouth Epileptic encephalopathy Delayed speech and language development Tremor Cardiomyopathy Atrial septal defect Abnormal heart morphology Hoarse voice Leukoencephalopathy Bicuspid aortic valve Recurrent skin infections Motor delay Skeletal muscle atrophy Hyporeflexia Febrile seizures Progressive microcephaly Thin upper lip vermilion Scoliosis Nystagmus Strabismus Feeding difficulties Hypertonia Postnatal microcephaly Limb hypertonia Congenital microcephaly Abnormal muscle tone Wide nasal bridge Long philtrum Prominent forehead Micropenis Upslanted palpebral fissure Umbilical hernia Malabsorption Talipes equinovarus Demyelinating peripheral neuropathy IgM deficiency Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Increased sensitivity to ionizing radiation Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Epicanthus Vomiting Chronic sinusitis Cerebral atrophy Hyperhidrosis Polydactyly Hyperkeratosis Polyhydramnios Retrognathia Hepatosplenomegaly Elevated hepatic transaminase Neonatal hypotonia Aggressive behavior Abnormality of the liver Abnormal cardiac septum morphology Arthrogryposis multiplex congenita Mild global developmental delay IgG deficiency Short philtrum Headache Severe global developmental delay Hirsutism Prominent nose Narrow forehead Short palpebral fissure Inflammatory abnormality of the skin Wormian bones Eosinophilia Psoriasiform dermatitis Myopathic facies Natal tooth Pulmonary artery stenosis Gait disturbance Abdominal pain Episodic fever Respiratory failure Weight loss Erythema Dry skin Otitis media Specific learning disability Clumsiness Telangiectasia Recurrent pneumonia Scaling skin Pulmonary fibrosis Interstitial pulmonary abnormality Bronchitis Hypopigmented skin patches on arms


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