High palate, and Systemic lupus erythematosus

Diseases related with High palate and Systemic lupus erythematosus

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

Top matches:

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

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

Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Other less relevant 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

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

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

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

Top 5 symptoms//phenotypes associated to High palate and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypothyroidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Systemic lupus erythematosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Abnormal facial shape Cataract Abnormality of metabolism/homeostasis Intellectual disability, mild Amenorrhea Ovarian cyst Autoimmunity Anemia Erythema Sensorineural hearing impairment Cognitive impairment Global developmental delay Delayed speech and language development Recurrent respiratory infections Diarrhea Recurrent infections Downslanted palpebral fissures Hypertelorism Ptosis

Rare Symptoms - Less than 30% cases

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


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