Immunodeficiency, and Cerebral cortical atrophy

Diseases related with Immunodeficiency and Cerebral cortical atrophy

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

Top matches:

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

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

Medium 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

Other less relevant matches:

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

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

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Cerebral cortical atrophy

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

Other less frequent symptoms

Patients with Immunodeficiency and Cerebral cortical atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia of the trunk

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Thrombocytopenia Ventriculomegaly Feeding difficulties Sensorineural hearing impairment Hypoplasia of the corpus callosum Short stature Anemia Decreased antibody level in blood Optic atrophy Cerebral atrophy Cerebellar hypoplasia Ataxia Pancytopenia Abnormal facial shape Respiratory distress Hypospadias Hepatomegaly Intrauterine growth retardation Cerebellar atrophy Hyperhidrosis Hepatosplenomegaly Low-set ears Cryptorchidism Abnormal intestine morphology Lymphopenia Neutropenia Pneumonia Hypertonia Cardiomyopathy Scoliosis Strabismus Muscular hypotonia Recurrent respiratory infections Visual impairment EEG abnormality Absent speech

Rare Symptoms - Less than 30% cases

Macrotia Developmental regression Inguinal hernia Respiratory tract infection Hernia Long philtrum Feeding difficulties in infancy Flexion contracture Agenesis of corpus callosum Pulmonary hypoplasia Ptosis Hypertelorism Lactic acidosis Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Eczema Hydronephrosis Camptodactyly Dilatation Postnatal growth retardation Leukopenia Conjunctivitis Rod-cone dystrophy Delayed myelination Hypotelorism Congestive heart failure Oligohydramnios Sepsis Hypopigmentation of the skin Nail dystrophy Osteoporosis Acidosis Alopecia Cataract Blepharitis Albinism Abnormality of immune system physiology Unilateral renal agenesis Ocular albinism Progressive microcephaly Narrow forehead Smooth philtrum Cleft palate Hypohidrosis Recurrent bacterial infections Decreased fetal movement Abnormal cardiac septum morphology Hyporeflexia Aggressive behavior Hyperreflexia Peripheral neuropathy Motor delay Limb hypertonia Epicanthus Vomiting Polydactyly Hyperkeratosis Retrognathia Intellectual disability, severe Neonatal hypotonia Abnormal bleeding Spasticity Dystonia Postaxial polydactyly Cirrhosis Bifid scrotum Micrognathia Plagiocephaly Anteverted nares Depressed nasal bridge High palate Muscle weakness Ichthyosis follicularis Unilateral chest hypoplasia Opacification of the corneal stroma Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Myopathy Methylmalonic aciduria Episodic vomiting Cleft upper lip Abnormality of dental enamel Sleep disturbance High, narrow palate Ketoacidosis Thick vermilion border Ketonuria Wide nose Polymicrogyria Congenital cataract Respiratory failure Dilated cardiomyopathy Severe global developmental delay Joint stiffness Organic aciduria Cleft lip Hypertrophic cardiomyopathy Coarse facial features Abnormal nasolacrimal system morphology Abnormality of temperature regulation Abnormality of the upper urinary tract Subcortical cerebral atrophy Atonic seizures Abnormal eyelash morphology Alopecia of scalp Scaling skin Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Congenital ichthyosiform erythroderma Intolerance to protein Abnormality of the vertebral column Absent septum pellucidum Psoriasiform dermatitis Erythroderma Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Absent eyelashes Propionyl-CoA carboxylase deficiency Corneal scarring Hyperglycinuria Intestinal obstruction Hyperglycinemia Cheilitis Acute encephalopathy Alopecia universalis Oxycephaly Thin eyebrow Triangular face Olivopontocerebellar atrophy Abnormal eyelid morphology Abnormality of the hand Cerebellar hemorrhage Recurrent corneal erosions Hypoplastic fingernail Increased level of hippuric acid in urine Heat intolerance Follicular hyperkeratosis Corneal erosion Urticaria Alopecia totalis Open mouth Ketosis Abnormality of the thymus Fever Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Encephalopathy Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the optic disc Aplasia/Hypoplasia of the macula Arrhythmia Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Hemivertebrae Recurrent fungal infections Hypopigmentation of the fundus Decreased T cell activation Ureteral atresia Hypoplasia of the thymus Abnormal cerebellum morphology Sideroblastic anemia Splenomegaly Hypochromic microcytic anemia Anemia of inadequate production Microcytic anemia Abnormality of the nervous system Brittle hair Aminoaciduria Nephrocalcinosis Neurodegeneration Pierre-Robin sequence Generalized tonic-clonic seizures Acute bronchitis Generalized myoclonic seizures Interstitial pulmonary abnormality Arachnoid cyst White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Cellular immunodeficiency Recurrent viral infections Poor appetite Tachypnea Aplasia/Hypoplasia of the corpus callosum Coma Increased body weight Aciduria Overgrowth Aspiration Dehydration Pancreatitis Decreased liver function Abnormality of retinal pigmentation Adducted thumb Decreased body weight Hyperammonemia Left ventricular hypertrophy Heterotopia Ischemic stroke Schistocytosis Progressive neurologic deterioration Cerebellar vermis hypoplasia Ventricular hypertrophy Infantile muscular hypotonia Poor suck Constipation Stroke Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Hypoglycemia Renal tubular dysfunction Apnea Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Congenital sensorineural hearing impairment Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Lethargy Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Metabolic acidosis Abnormal posturing Pterygium of nails Multicystic kidney dysplasia Upslanted palpebral fissure Retinal detachment Downturned corners of mouth Bulbous nose Pulmonic stenosis Synophrys Short philtrum Wide mouth Thin upper lip vermilion Reduced visual acuity Prominent forehead Tapered finger Posteriorly rotated ears Patent ductus arteriosus Clinodactyly Midface retrusion Behavioral abnormality Abnormality of the skeletal system Downslanted palpebral fissures Wide nasal bridge Type II transferrin isoform profile Highly arched eyebrow Ascites Gastrointestinal inflammation Proximal placement of thumb Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Sparse eyebrow Nevus Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Lymphedema Exotropia Bilateral sensorineural hearing impairment Dandy-Walker malformation Renal agenesis Webbed neck Dental malocclusion Abnormal T cell morphology Macrovesicular hepatic steatosis Increased mean platelet volume Areflexia Decreased nerve conduction velocity Recurrent upper respiratory tract infections Drooling Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Babinski sign Elevated serum creatine phosphokinase Visual loss Gout Intellectual disability, mild Respiratory insufficiency Dysphagia Cognitive impairment Abnormal muscle tone Congenital microcephaly CNS hypomyelination Absence seizures Cerebral visual impairment Postnatal microcephaly Arnold-Chiari type I malformation Low frustration tolerance Micronodular cirrhosis Hepatic steatosis Impaired T cell function Proximal tubulopathy Loss of consciousness Inflammation of the large intestine Hyperbilirubinemia Chronic diarrhea Cholestasis Hip dysplasia Focal-onset seizure Malabsorption Pancreatic fibrosis Arthrogryposis multiplex congenita Abnormality of the liver Elevated hepatic transaminase Polyhydramnios Diarrhea Talipes equinovarus Spinal cord posterior columns myelin loss Parietal cortical atrophy Increased urinary hypoxanthine Muscle mounding Total anomalous pulmonary venous return Macrothrombocytopenia Abnormality of the nail Microphthalmia Scarring Erythema Abnormality of the kidney Mental deterioration Photophobia Umbilical hernia Dementia Severe short stature Delayed skeletal maturation Kyphosis Corneal opacity Frontal bossing Myopia Anal mucosal leukoplakia Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Camptodactyly of finger Hip dislocation Reticular hyperpigmentation Postaxial hand polydactyly Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Epidermal acanthosis Abnormality of the ribs Specific learning disability Papule Nail dysplasia Ectodermal dysplasia Brain atrophy Palmoplantar keratoderma Ichthyosis Dry skin Astigmatism Talipes Hypotrichosis Platyspondyly Pancreatic adenocarcinoma Urethral stenosis Intestinal lymphangiectasia Decreased testicular size Anosmia Sparse eyelashes Horseshoe kidney Bone marrow hypocellularity Truncal ataxia Hyperpigmentation of the skin Telangiectasia Sparse scalp hair Cerebral calcification Gastrointestinal hemorrhage Pterygium Gliosis Abnormality of skin pigmentation Carious teeth Small for gestational age Leukemia Carcinoma Abnormality of the dentition Neoplasm Eversion of lateral third of lower eyelids Flared nostrils Dermal atrophy Myelodysplasia Lacrimal duct stenosis Hodgkin lymphoma Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Aplastic anemia Oral leukoplakia Chromosome breakage Premature loss of teeth Generalized hyperpigmentation Neonatal respiratory distress Acute myeloid leukemia Myeloid leukemia Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Epiphora Propionicacidemia


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