Autoimmunity, and Encephalocele

Diseases related with Autoimmunity and Encephalocele

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


Top matches:

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match MECKEL SYNDROME, TYPE 11; MKS11


Related symptoms:

  • Polydactyly
  • Oligohydramnios
  • Encephalocele
  • Polycystic kidney dysplasia
  • Occipital encephalocele


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 11; MKS11

Low match MECKEL SYNDROME, TYPE 9; MKS9


Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Talipes equinovarus
  • Polydactyly
  • Renal cyst
  • Limb undergrowth
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 9; MKS9

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Other less relevant matches:

Low match LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Related symptoms:

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

Low match CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS


Related symptoms:

  • Hypertelorism
  • Hydrocephalus
  • Encephalocele
  • Abnormality of the outer ear
  • Abnormal electroretinogram


SOURCES: OMIM MENDELIAN

More info about CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

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 JOUBERT SYNDROME 16; JBTS16


Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (OMIM ) (summary by Lee et al., 2012).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Polydactyly
  • Coloboma
  • Retinal dystrophy
  • Renal cyst
  • Dandy-Walker malformation


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 16; JBTS16

Low match MECKEL SYNDROME, TYPE 3; MKS3


Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Low match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Encephalocele

Symptoms // Phenotype % cases
Polydactyly Uncommon - Between 30% and 50% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Molar tooth sign on MRI Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Recurrent infections Dandy-Walker malformation Postaxial polydactyly Seizures Hydrocephalus Cleft palate Multicystic kidney dysplasia Calvarial skull defect Deep philtrum Cerebellar vermis hypoplasia Enlarged cisterna magna Intellectual disability, profound Feeding difficulties in infancy Thick vermilion border Hirsutism Polymicrogyria Deeply set eye EEG abnormality Rod-cone dystrophy Absent speech Frontal bossing Downslanted palpebral fissures Wide nasal bridge Infra-orbital crease Anemia Coloboma Pain Relative macrocephaly Meningitis Bone pain Telangiectasia Broad forehead High forehead Recurrent respiratory infections Immunodeficiency Malar flattening Abnormal facial shape Retinal dystrophy Short stature Cystic renal dysplasia Bile duct proliferation Hepatic fibrosis Postaxial hand polydactyly Nephronophthisis Oculomotor apraxia Apraxia Motor delay Epicanthus Global developmental delay Feeding difficulties Renal dysplasia Limited elbow extension Arachnodactyly Craniosynostosis Brachycephaly Abnormality of the skeletal system Aplasia/hypoplasia of the extremities Abnormality of the posterior cranial fossa Bilateral talipes equinovarus Ambiguous genitalia Humeroradial synostosis Limb undergrowth Talipes equinovarus Polycystic kidney dysplasia Oligohydramnios Abnormal erythrocyte morphology Leukopenia Hemolytic anemia Leukemia Oligodactyly Multiple skeletal anomalies Low-set ears Spina bifida occulta Growth delay Ataxia Generalized hypotonia Thrombocytopenia Intellectual disability Symmetrical, oval parietal bone defects Parietal foramina Aplasia cutis congenita of scalp Spina bifida Hypertelorism Cleft upper lip Confusion Headache Abnormal corneal endothelium morphology Anterior encephalocele Posterior fossa cyst Anterior segment developmental abnormality Abnormal electroretinogram Abnormality of the outer ear Telangiectases of the cheeks



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Abnormal blistering of the skin, related diseases and genetic alterations

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