Autoimmunity, and Spina bifida

Diseases related with Autoimmunity and Spina bifida

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


Top matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS


Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (OMIM ) (Detrait et al., 2005).Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS Is also known as ntd, folate-sensitive

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology
  • Spina bifida
  • Anencephaly
  • Myelomeningocele


SOURCES: OMIM MENDELIAN

More info about NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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 NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Spina bifida

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Arthritis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Acne Intellectual disability Hypocalcemia Seizures Hypothyroidism Short neck Anemia Cleft palate Cataract Abnormal facial shape Microcephaly Immunodeficiency Neoplasm Hemolytic anemia Specific learning disability Amenorrhea Hypertelorism Tetralogy of Fallot Bulbous nose Nasal speech Primary amenorrhea Purpura Impaired T cell function Schizophrenia Cholelithiasis Rheumatoid arthritis Seborrheic dermatitis Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Bipolar affective disorder Umbilical hernia Posterior embryotoxon Recurrent infections Depressivity Atrial septal defect Hydrocephalus Obesity Behavioral abnormality Abnormal heart morphology Inguinal hernia Ventricular septal defect Fever Delayed speech and language development Abnormality of cardiovascular system morphology Muscular hypotonia Global developmental delay Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Abnormality of the tonsils Right aortic arch Platybasia Sensorineural hearing impairment Duodenal stenosis Retinal vascular tortuosity Malar flattening Perimembranous ventricular septal defect Pain Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Vomiting Congestive heart failure Nevus Vitiligo Interrupted aortic arch Arteria lusoria Conotruncal defect Attention deficit hyperactivity disorder Talipes equinovarus Abnormal lung morphology Myelopathy Failure to thrive Hypoplasia of the thymus Tetany Autoimmune thrombocytopenia Hypopigmented skin patches Short philtrum Telecanthus Aplasia of the thymus Narrow mouth Microphthalmia Low-set ears Strabismus Micrognathia Chronic otitis media Hyperthyroidism Sacral meningocele Right aortic arch with mirror image branching Glaucoma Alopecia Ptosis Hypospadias Hypoplasia of the corpus callosum Anxiety Arnold-Chiari malformation Abnormality of the pinna Bicuspid aortic valve Dementia Bifid uvula Chorea Psoriasiform dermatitis High palate Vesicoureteral reflux Renal dysplasia Renal agenesis Hernia Peripheral demyelination Low posterior hairline Cognitive impairment Retrognathia Hyperactivity Unilateral renal agenesis Anal atresia Posteriorly rotated ears Inflammation of the large intestine Generalized hypotonia Autoimmune hemolytic anemia Conductive hearing impairment Blepharophimosis Platyspondyly Polydactyly Skeletal dysplasia Pectus carinatum Hip dislocation Apnea Broad forehead Hyperlordosis Respiratory tract infection Narrow chest Recurrent cutaneous abscess formation Pustule High myopia Sleep apnea Coxa vara Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Lumbar hyperlordosis Limb undergrowth Genu valgum Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Midface retrusion Flat face Retinal degeneration Paresthesia Micromelia Severe short stature Epidermal nevus Kyphosis Freckling Osteosarcoma Pituitary adenoma Prolactin excess Increased circulating cortisol level Syringomyelia Growth hormone excess Osteomalacia Hyperparathyroidism Abnormality of the thyroid gland Intestinal polyposis Pathologic fracture Neurofibromas Hypophosphatemia Adrenal insufficiency Hyperostosis Rickets Hypercalcemia Precocious puberty Pituitary hypothyroidism Craniofacial hyperostosis Respiratory distress Monostotic fibrous dysplasia Gait disturbance Myopia Hypertension Muscle weakness Nevus flammeus Nystagmus Genu varum Growth delay Large cafe-au-lait macules with irregular margins Ovarian cyst Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Growth abnormality Hypoplasia of the odontoid process Back pain Ichthyosis Toe syndactyly Conjunctivitis Abnormality of the foot Recurrent bacterial infections Recurrent pneumonia Meningitis Lymphopenia Skin ulcer Encephalitis Sinusitis Epidermal acanthosis Hypercalciuria Telangiectasia Chronic diarrhea Abnormal vertebral morphology Recurrent urinary tract infections Hepatitis Recurrent skin infections Papule Decreased antibody level in blood Agammaglobulinemia Septic arthritis Epididymitis Prostatitis Thymoma Lymph node hypoplasia Abnormality of the lymphatic system Cor pulmonale Enteroviral dermatomyositis syndrome Glossoptosis Osteomyelitis Bronchitis Enteroviral hepatitis Leukemia Leukopenia Abnormal erythrocyte morphology Cellulitis Scarring Finger syndactyly Otitis media Abnormality of the hair Spondyloepiphyseal dysplasia Ovoid vertebral bodies Sciatica Delayed pubic bone ossification Retinoschisis Hamartoma Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Barrel-shaped chest Limitation of knee mobility Vitreoretinopathy Pyoderma Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Neonatal short-trunk short stature Delayed calcaneal ossification Spina bifida occulta Encephalopathy Sepsis Neutropenia Malabsorption Skin rash Retinopathy Weight loss Rod-cone dystrophy Pneumonia Dilatation Abnormality of metabolism/homeostasis Diarrhea Myopathy Preaxial polydactyly Fatigue Ataxia Neural tube defect Spinal dysraphism Anencephaly Elevated alkaline phosphatase Patellar dislocation Goiter Polymicrogyria Exotropia Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Iris coloboma Astigmatism Anterior segment developmental abnormality Generalized tonic-clonic seizures Microtia Craniosynostosis Abnormality of the kidney Cleft lip Hydronephrosis Hypertonia Flexion contracture Sclerocornea Femoral hernia Unilateral lung agenesis Type I truncus arteriosus Abnormality of the dentition Downslanted palpebral fissures Optic atrophy Intrauterine growth retardation Wide nasal bridge Epicanthus Cryptorchidism Parathyroid agenesis Alcoholism Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Unilateral primary pulmonary dysgenesis Congenital conductive hearing impairment Splenomegaly Psychosis Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Underdeveloped nasal alae Obsessive-compulsive behavior Dysmetria Pulmonic stenosis Congenital cataract Mental deterioration Aggressive behavior Absent speech Cerebellar atrophy Intellectual disability, severe Apathy Hypoplasia of the brainstem Perineal fistula Abnormality of the endocrine system Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Pulmonary artery atresia Echolalia Myopathic facies Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Intellectual disability, mild Long philtrum Neoplasm of the skin Paralysis Ocular pain Autoimmune antibody positivity Hyperkinesis Neuronal loss in central nervous system Sensory impairment Nausea Paraplegia Respiratory failure Abnormality of brain morphology Visual loss Respiratory insufficiency Occipital myelomeningocele Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Neuritis Optic neuritis Abnormal pulmonary valve morphology Hirsutism Nephrocalcinosis Aspiration Gynecomastia Decreased liver function Cafe-au-lait spot Tall stature Nephrolithiasis Abdominal distention Infertility CSF pleocytosis Facial asymmetry Synophrys Hypogonadism Blindness Depressed nasal bridge Myelitis Recurrent singultus Functional abnormality of the bladder Anorectal anomaly Arrhinencephaly Constipation Arachnodactyly Aganglionic megacolon Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Intestinal malrotation Asthma Long face Joint hyperflexibility Laryngomalacia Carious teeth Prominent nasal bridge Feeding difficulties in infancy Myalgia Gastroesophageal reflux Polyhydramnios Autism Upslanted palpebral fissure Abnormality of dental enamel Polycystic kidney dysplasia Small earlobe Abnormal eyelid morphology Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Hand polydactyly Multiple renal cysts Turricephaly Abnormal lung lobation Foot polydactyly Bowel incontinence Dysphasia Overfolded helix Abnormality of the thorax Comedo



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 Dolichocephaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more