Autoimmunity, and Cerebellar vermis hypoplasia

Diseases related with Autoimmunity and Cerebellar vermis hypoplasia

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


Top matches:

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 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

Low match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

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Other less relevant matches:

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 1


Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Low match JOUBERT SYNDROME 13; JBTS13


Related symptoms:

  • Cerebellar vermis hypoplasia
  • Pachygyria
  • Molar tooth sign on MRI
  • Abnormal cortical gyration


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 13; JBTS13

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY


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

Low match SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD


SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Low match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Molar tooth sign on MRI Ptosis Recurrent infections Feeding difficulties Epicanthus Wide nasal bridge Growth delay Short stature Apraxia Microcephaly Abnormal facial shape Immunodeficiency Oculomotor apraxia Micropenis Pachygyria

Rare Symptoms - Less than 30% cases


Gait ataxia Polymicrogyria Motor delay Rod-cone dystrophy Feeding difficulties in infancy Ventricular septal defect Abnormality of the kidney Decreased antibody level in blood Abnormality of the dentition Hydronephrosis Dystonia Nystagmus Prominent forehead Hypothyroidism Renal insufficiency Deeply set eye Hirsutism Frontal bossing Hypertelorism Cone/cone-rod dystrophy Downslanted palpebral fissures Highly arched eyebrow Growth hormone deficiency Abnormal cerebellum morphology Hearing impairment Myoclonus Cerebellar hypoplasia Hypoplasia of the corpus callosum Anteverted nares Sepsis Heterotopia Scaphocephaly Visual impairment Failure to thrive Strabismus Micrognathia Depressed nasal bridge Cleft palate Crossed fused renal ectopia Single ventricle Progressive cerebellar ataxia Chorea Frequent falls Lower limb spasticity Telangiectasia Blindness Dysdiadochokinesis Gaze-evoked nystagmus Nephronophthisis Impaired smooth pursuit Hypometric saccades Distal amyotrophy Medial flaring of the eyebrow Abnormal cortical gyration Anorectal anomaly Common atrium Sensorineural hearing impairment Increased sensitivity to ionizing radiation Cerebellar atrophy Dysmetria Short nasal septum Telecanthus Scarring Progressive visual loss Recurrent urinary tract infections Congenital mitral stenosis Anoperineal fistula Multicystic kidney dysplasia Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Eversion of lateral third of lower eyelids Abnormality of the nervous system Premature thelarche Neoplasm Peripheral neuropathy Dysarthria Tremor Gait disturbance Prominent eyelashes Liver abscess Hyporeflexia Sclerosing cholangitis Nyctalopia Delayed eruption of teeth Intrauterine growth retardation Enlarged cisterna magna Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Macrocephaly Absent speech Polydactyly EEG abnormality Postaxial polydactyly Thick vermilion border Intellectual disability, profound Encephalocele Deep philtrum Infra-orbital crease Recurrent upper respiratory tract infections Cognitive impairment Proteinuria Craniosynostosis Sparse hair Hematuria Ectodermal dysplasia Dandy-Walker malformation Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Hypoplastic toenails Tubulointerstitial nephritis Bilateral ptosis Tachypnea Long philtrum Epibulbar dermoid Thin upper lip vermilion Brain atrophy Short chin CNS hypomyelination Combined immunodeficiency Cortical gyral simplification Severe vision loss Severe combined immunodeficiency Recurrent lower respiratory tract infections Overlapping fingers Recurrent aphthous stomatitis Hypertonia Irritability Eczema Cleft lip Fine hair Choreoathetosis Aspiration Infantile muscular hypotonia Hemiplegia Ectopia lentis Agitation Basal ganglia calcification Restlessness Generalized dystonia Molybdenum cofactor deficiency Sulfite oxidase deficiency Decreased urinary sulfate Increased urinary sulfite Vertebral clefting Vitiligo Abnormality of the middle ear Hypoglycemia Obesity Depressivity Hypospadias Clinodactyly Patent ductus arteriosus Visual loss Abnormal heart morphology Pneumonia Severe short stature Posteriorly rotated ears Macrotia Pes planus Jaundice Anxiety Dilatation Joint laxity Intellectual disability, moderate Postnatal growth retardation Abnormality of the pinna Respiratory tract infection Protruding ear Paralysis Coloboma Abnormal cardiac septum morphology Malabsorption Anal atresia Astigmatism Joint hypermobility Hernia Kyphosis Hemolytic anemia Abnormality of neuronal migration Spasticity Ventriculomegaly Muscular hypotonia of the trunk Abnormality of the cerebral white matter Tetraplegia Focal-onset seizure Febrile seizures Postnatal microcephaly Absence seizures Spastic tetraparesis Lissencephaly Focal impaired awareness seizure Hypoplasia of the brainstem Progressive spasticity Intellectual disability, mild Mild global developmental delay Agyria Perivascular spaces Type I lissencephaly Scoliosis Muscular hypotonia Cryptorchidism Anemia High palate Brachydactyly Myopia Abnormality of the skeletal system Atrial septal defect Diarrhea Wide nose Single transverse palmar crease Recurrent aspiration pneumonia Depressed nasal tip Severe hearing impairment Transposition of the great arteries Cerebellar vermis atrophy Autoimmune hemolytic anemia Congenital hypothyroidism Thyroiditis IgA deficiency Autoimmune thrombocytopenia Anal stenosis Hashimoto thyroiditis Overweight Patellar dislocation Short columella Short 5th finger Celiac disease Retinal coloboma Mitral stenosis Optic nerve coloboma Cholangitis Small face Broad philtrum Trichorrhexis nodosa Anterior plagiocephaly Recurrent ear infections Ureteropelvic junction obstruction Diaphragmatic eventration Bronchomalacia Biliary atresia Prominent fingertip pads Long palpebral fissure Right bundle branch block Hypodontia Sparse and thin eyebrow Intestinal malrotation Prominent nose Dental malocclusion Otitis media Microdontia Congenital diaphragmatic hernia Coarctation of aorta Blue sclerae Small nail Recurrent otitis media Renal dysplasia Long eyelashes Cafe-au-lait spot Abnormal vertebral morphology Increased body weight Bundle branch block Congenital hip dislocation Horseshoe kidney Hyperbilirubinemia Purpura Abnormal dermatoglyphics Abnormality of the urinary system Poor suck Failure to thrive in infancy Brittle hair Precocious puberty Cupped ear Bilateral cryptorchidism Preauricular pit Hydroureter Posterior fossa cyst



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