Autoimmunity, and Heterotopia

Diseases related with Autoimmunity and Heterotopia

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


Top matches:

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM


PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Low match LISSENCEPHALY 1; LIS1


Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Low match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Heterotopia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Heterotopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Thrombocytopenia Recurrent infections Immunodeficiency Diarrhea Strabismus Short neck Abnormal facial shape Anemia Posteriorly rotated ears Cleft palate Abnormality of the kidney Muscular hypotonia Abnormality of neuronal migration Hemolytic anemia Micrognathia Failure to thrive Hypospadias Hypothyroidism Hydronephrosis Depressed nasal bridge Purpura Growth delay Scoliosis Autoimmune hemolytic anemia Hypoplasia of the corpus callosum Pachygyria Autoimmune thrombocytopenia Patent ductus arteriosus Intellectual disability, moderate Astigmatism Atrial septal defect Pneumonia

Rare Symptoms - Less than 30% cases


Brachydactyly Abnormality of the middle ear Anal stenosis Microdontia Neoplasm Anorectal anomaly Cafe-au-lait spot Lymphoma Ventricular septal defect Intellectual disability, mild Feeding difficulties Attention deficit hyperactivity disorder Lymphopenia Amenorrhea Vitiligo Combined immunodeficiency Acidosis Primary amenorrhea Poor suck Hearing impairment Renal dysplasia High palate Polymicrogyria B-cell lymphoma Recurrent urinary tract infections Retrognathia Ptosis Behavioral abnormality Abnormal cerebellum morphology Platyspondyly Obesity Myopia Abnormality of the dentition Vomiting Otitis media Cardiomyopathy Intrauterine growth retardation Bulbous nose Hypoglycemia Renal insufficiency Cognitive impairment Hypocalcemia Prominent nose Lissencephaly Abnormality of the pinna Anal atresia Bruising susceptibility Kyphosis Fever Macrotia Coarctation of aorta Malabsorption Febrile seizures Abnormal heart morphology Talipes equinovarus Respiratory insufficiency Low-set ears Cerebellar hypoplasia Respiratory failure Hypertelorism Agenesis of corpus callosum Penoscrotal hypospadias Recurrent bronchitis Abnormality of the musculature Neuroblastoma Acute lymphoblastic leukemia B lymphocytopenia Hearing abnormality Acute leukemia Abnormal eyelid morphology Pollakisuria Hypsarrhythmia Intellectual disability, severe Progressive vitiligo Decrease in T cell count Recurrent sinopulmonary infections Abnormal hair quantity Medulloblastoma Abnormality of chromosome stability Rhabdomyosarcoma Recurrent infection of the gastrointestinal tract Glioma Mastoiditis Malar prominence Dysgammaglobulinemia T-cell lymphoma Prominent nasal bridge Freckling Coronal cleft vertebrae Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Porencephalic cyst Irregular tarsal bones Metaphyseal cupping Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Widened sacrosciatic notch Horizontal inferior border of scapula Long nose Cutaneous photosensitivity Non-midline cleft lip Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Abnormality of the hair Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Abnormality of the face Choanal atresia Sloping forehead 11 thoracic vertebrae Convex nasal ridge Neurodegeneration Cleft upper lip Leukemia Small for gestational age Mental deterioration Abnormality of the nervous system Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Skeletal muscle atrophy Muscle weakness Ataxia Tetraparesis Agyria Progressive microcephaly Posterior embryotoxon Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Bipolar affective disorder Inflammation of the large intestine Interrupted aortic arch Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Spina bifida Exotropia Amblyopia Graves disease Perimembranous ventricular septal defect Short palpebral fissure Accommodative esotropia Hepatocellular carcinoma Aciduria Asthma Carcinoma Abnormality of metabolism/homeostasis Tremor Hyperreflexia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Esophoria Femoral hernia Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Broad thumb Low posterior hairline Infantile spasms Absence seizures Hypertrophic cardiomyopathy Abdominal pain Constipation Pain Type I lissencephaly Perivascular spaces Metaphyseal dysplasia Mild global developmental delay Progressive spasticity Hypoplasia of the brainstem Focal impaired awareness seizure Spastic tetraparesis Postnatal microcephaly Metabolic acidosis Cerebellar vermis hypoplasia Focal-onset seizure Sepsis Tetraplegia Abnormality of the cerebral white matter Muscular hypotonia of the trunk Myoclonus Ventriculomegaly Spasticity Periventricular gray matter heterotopia Epileptic spasms Poor eye contact Lactic acidosis Hyperammonemia Tetralogy of Fallot Telecanthus Specific learning disability Renal agenesis Chorea Bifid uvula High, narrow palate Iris coloboma Generalized tonic-clonic seizures Microtia Short philtrum Blepharophimosis Craniosynostosis Cleft lip Arthritis Poor appetite Umbilical hernia Narrow mouth Inguinal hernia Abnormality of cardiovascular system morphology Microphthalmia Hypertonia Hydrocephalus Delayed speech and language development Flexion contracture Episodic vomiting Chronic constipation Ketosis Turricephaly Crossed fused renal ectopia Disproportionate short stature Multiple cafe-au-lait spots Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Steatorrhea Subvalvular aortic stenosis Hypermelanotic macule High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Precocious atherosclerosis Dentinogenesis imperfecta Coarse hair Premature arteriosclerosis Clinodactyly Depressivity Hernia Dilatation Abnormality of the skeletal system Wide nasal bridge Epicanthus Cryptorchidism Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Moyamoya phenomenon Cellular immunodeficiency Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Chronic kidney disease Reduced bone mineral density Severe short stature Abnormal platelet function Thin upper lip vermilion Osteopenia Dementia Headache Congestive heart failure Cerebellar atrophy Hypertension Motor delay Reduced prothrombin consumption Absence of alpha granules Abnormal platelet aggregation Anisopoikilocytosis Developmental regression Myelofibrosis Increased mean platelet volume Abnormal thrombocyte morphology Ecchymosis Anisocytosis Prolonged bleeding time Petechiae Menorrhagia Epistaxis Gastrointestinal hemorrhage Abnormal bleeding Proteinuria Hyperlordosis Azoospermia Decreased testicular size Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Waddling gait Scarring Premature birth Migraine Brain atrophy Gliosis Neutropenia Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Hip dislocation Corneal opacity Stroke Visual loss Micropenis Short finger Bronchomalacia Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Diaphragmatic eventration Short nasal septum Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Eversion of lateral third of lower eyelids Pilonidal sinus Short columella Rhizomelia Cortical gyral simplification Thoracic hypoplasia Metaphyseal irregularity Cone-shaped epiphysis Redundant skin Systemic lupus erythematosus Atrioventricular block Short long bone Accelerated skeletal maturation Short ribs Short toe Short phalanx of finger Vertical orbital dystopia Abnormality of the ribs Limb undergrowth Short metacarpal Short palm Narrow chest Apnea Delayed skeletal maturation Arrhythmia Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Depressed nasal tip Patellar dislocation Pes planus Hirsutism Recurrent otitis media Small nail Blue sclerae Congenital diaphragmatic hernia Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Wide nose Abnormal vertebral morphology Joint hypermobility Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Joint laxity Anxiety Jaundice Long eyelashes Sparse and thin eyebrow Scaphocephaly Bundle branch block Overweight Hashimoto thyroiditis IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Hydroureter Increased body weight Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Poor coordination



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