High palate, and Autoimmunity

Diseases related with High palate and Autoimmunity

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

Top matches:

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Other less relevant matches:

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

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

Top 5 symptoms//phenotypes associated to High palate and Autoimmunity

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Abnormal facial shape Delayed speech and language development Hypertelorism Global developmental delay Recurrent infections Intellectual disability, mild Cataract Amenorrhea Anemia Cognitive impairment Ptosis Retrognathia Nasal speech Psoriasiform dermatitis Immunodeficiency Low-set ears Hemolytic anemia Short stature Narrow mouth Abnormality of metabolism/homeostasis Low posterior hairline Recurrent respiratory infections Cleft palate Obesity Thrombocytopenia Primary amenorrhea Downslanted palpebral fissures Renal agenesis Purpura Autoimmune thrombocytopenia Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Malar flattening Acne Intellectual disability, severe Prominent forehead Proptosis Unilateral renal agenesis Short philtrum Prominent nasal bridge Congenital cataract Protruding ear Bipolar affective disorder Short nose Seborrheic dermatitis Congenital hip dislocation Duodenal stenosis Impaired T cell function Right aortic arch Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Frontal bossing Myelomeningocele Truncus arteriosus Hypoparathyroidism Vitiligo Posterior embryotoxon Autoimmune hemolytic anemia Inflammation of the large intestine Depressed nasal bridge Rheumatoid arthritis Spina bifida High, narrow palate Hypoplasia of the corpus callosum Diarrhea Abnormality of cardiovascular system morphology Behavioral abnormality High forehead Mental deterioration Atrial septal defect Hydrocephalus Short neck Abnormal heart morphology Ventricular septal defect Fever Microcephaly Dehydration Psychosis Abnormality of the middle ear Hallucinations Patent ductus arteriosus Inguinal hernia Cholelithiasis Tetralogy of Fallot Convex nasal ridge Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Hypocalcemia Renal dysplasia Conotruncal defect Specific learning disability Posteriorly rotated ears Systemic lupus erythematosus Chorea Bifid uvula Bulbous nose Blepharophimosis Abnormality of the pinna Arthritis Umbilical hernia Retinal vascular tortuosity Meningocele Progressive macrocephaly Breast carcinoma Nystagmus Hashimoto thyroiditis Dysarthria Thyroiditis Hyperthyroidism Goiter Hyporeflexia Palmoplantar hyperkeratosis Gastroesophageal reflux Conductive hearing impairment Kyphosis Gynecomastia Intention tremor Erythema Abnormality of the cardiovascular system Hypoplasia of the maxilla Asthma Subcutaneous lipoma Narrow palpebral fissure Pectus excavatum Myopia Fatigable weakness Skin tags Inflammatory abnormality of the skin Premature ovarian insufficiency Colonic diverticula Aplasia of the thymus Angioid streaks of the fundus Arteria lusoria Hamartomatous polyposis Arthrogryposis multiplex congenita Sparse hair Ovarian cyst Thyroid adenoma Varicocele Right aortic arch with mirror image branching Ataxia Sacral meningocele Furrowed tongue Hydrocele testis Meningioma Transitional cell carcinoma of the bladder Fibroadenoma of the breast Generalized hypotonia Cerebellar atrophy Depressivity Hypospadias Muscular hypotonia Hernia Absent speech Abnormality of the thymus Recurrent cystitis Parathyroid hypoplasia Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Reduced bone mineral density Thin skin Parathyroid agenesis Depressed nasal ridge Cutaneous photosensitivity Hepatitis Palmoplantar keratoderma Hirsutism Abnormality of the fingernails Osteomyelitis Diffuse telangiectasia Accommodative esotropia Crusting erythematous dermatitis Facial hirsutism Poliosis Vascular tortuosity Esophoria White forelock Concave nasal ridge Chronic lung disease Increased antibody level in blood Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Decreased circulating parathyroid hormone level Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Dementia Psychotic episodes Hyperactivity Pierre-Robin sequence Cleft lip Myopathic facies Abnormality of the ear Basal ganglia calcification Telecanthus Axonal loss Submucous cleft hard palate Anal stenosis Hydronephrosis Microphthalmia Hypertonia Hearing abnormality Arachnodactyly Delusions Flexion contracture Abnormality of the kidney Perineal fistula Giant platelets Paranoia Central nervous system degeneration Vascular ring Mood swings Platybasia Congenital conductive hearing impairment Strabismus Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Neoplasm Pulmonary artery atresia Abnormality of the endocrine system Echolalia Hypoplasia of the brainstem Craniosynostosis Anxiety Peripheral demyelination Holoprosencephaly Multicystic kidney dysplasia Femoral hernia Alcoholism Open mouth Perisylvian polymicrogyria Underdeveloped nasal alae Abnormality of the hand Vesicoureteral reflux Velopharyngeal insufficiency Dysmetria Anal atresia Pulmonic stenosis Aggressive behavior Hypoplasia of the thymus Anterior segment developmental abnormality Attention deficit hyperactivity disorder Short palpebral fissure Microtia Generalized tonic-clonic seizures Astigmatism Polymicrogyria Iris coloboma Coarctation of aorta Broad thumb Tetany Amblyopia Exotropia Obsessive-compulsive behavior Apathy Sclerocornea Dysdiadochokinesis Dry skin Prominent nose Genu valgum Easy fatigability Neck muscle weakness Weak cry Spinal rigidity Bulbar palsy Toe walking Stridor Poor suck Dysphonia Poor head control Obstructive sleep apnea EMG: myopathic abnormalities Microretrognathia Diplopia Decreased fetal movement Cyanosis Waddling gait Esotropia Generalized muscle weakness Central hypotonia Limb-girdle muscle weakness Long face Apneic episodes precipitated by illness, fatigue, stress Syndactyly Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Nasal regurgitation Distal lower limb muscle weakness Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Distal amyotrophy Ophthalmoplegia Finger syndactyly Abnormality of the skeletal system Bronchiectasis Eczema Lymphoma Sensory impairment Neutropenia Respiratory tract infection Abnormality of the nervous system Myoclonus Brachydactyly Vasculitis Failure to thrive Hypergalactosemia Menstrual irregularities Increased circulating gonadotropin level Primary adrenal insufficiency Gonadal dysgenesis Secondary amenorrhea Webbed neck Lymphopenia Leukopenia Pectus carinatum Motor delay Joint laxity Proximal muscle weakness Difficulty walking Kyphoscoliosis Polyhydramnios Pes cavus Areflexia Dysphagia Feeding difficulties Recurrent skin infections Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Deeply set eye Hip dislocation Carious teeth Sparse scalp hair Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Hyperlipidemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Choreoathetosis Myocardial infarction Heart block Fine hair Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Decreased testicular size Dental malocclusion Triangular face Polyneuropathy Sensory neuropathy Insulin-resistant diabetes mellitus Anodontia Delayed puberty Hepatomegaly Pruritus Papule Skin rash Elevated hepatic transaminase Hepatosplenomegaly Hyperkeratosis Splenomegaly Vomiting Visual impairment Decreased serum testosterone level Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Abnormality of movement Hypotrichosis Toe syndactyly Abnormality of dental enamel Elbow dislocation Radioulnar synostosis Deep philtrum Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Narrow palate Hypoplasia of the ulna Hemivertebrae Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Hypodontia Micromelia Ectropion Mixed hearing impairment Camptodactyly Peripheral neuropathy Micropenis Diabetes mellitus Hypogonadism Alopecia Babinski sign Dystonia Gait disturbance Hyperreflexia Synostosis of joints Absent thumb Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Type I truncus arteriosus


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