Immunodeficiency, and Astigmatism

Diseases related with Immunodeficiency and Astigmatism

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


Top matches:

Low match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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Other less relevant matches:

Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER


Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

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 IMMUNODEFICIENCY 47; IMD47


Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Top 5 symptoms//phenotypes associated to Immunodeficiency and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Astigmatism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Myopia Hypermetropia Feeding difficulties Scoliosis Renal dysplasia Abnormality of the kidney Strabismus Abnormality of the dentition Abnormal facial shape Hydronephrosis Growth delay Anemia Autoimmunity Macrotia Cryptorchidism Bulbous nose Micrognathia Umbilical hernia Corneal opacity Malabsorption Recurrent bacterial infections Abnormality of dental enamel Microdontia Long eyelashes Cleft palate Failure to thrive Intrauterine growth retardation Obesity Hypoplasia of the corpus callosum Kyphosis Microphthalmia Delayed speech and language development Renal insufficiency Severe short stature Posteriorly rotated ears Ptosis Generalized hypotonia Hypothyroidism Thin upper lip vermilion Epicanthus

Rare Symptoms - Less than 30% cases


Anxiety Hypodontia Muscular hypotonia Platyspondyly Prominent nose Dental malocclusion Decreased antibody level in blood Heterotopia Brain atrophy Hip dislocation Developmental regression Dementia Pneumonia Thrombocytopenia Diarrhea Short neck Fever Scarring Specific learning disability Flexion contracture Autoimmune hemolytic anemia Abnormal heart morphology Patent ductus arteriosus Abnormality of the pinna Atrial septal defect Ventricular septal defect High palate Attention deficit hyperactivity disorder Hypertelorism Polymicrogyria Hemolytic anemia Coarctation of aorta Short palpebral fissure Thin eyebrow Purpura Autoimmune thrombocytopenia Jaundice Vitiligo Hydroureter Unilateral renal agenesis Psoriasiform dermatitis Abnormality of the middle ear Abnormal vertebral morphology Hypohidrosis Spasticity Wide nasal bridge Respiratory tract infection Agenesis of corpus callosum Inguinal hernia Hernia Dilatation Cognitive impairment Opacification of the corneal stroma Narrow mouth Abnormality of the hair Nystagmus Inflammation of the large intestine Hypocalcemia Melanocytic nevus Hypoparathyroidism Intestinal obstruction Amblyopia Deeply set eye Hypopigmentation of the skin Growth hormone deficiency Postnatal growth retardation Abnormal lung morphology Hyperactivity Photophobia Epidermal acanthosis Tetany Neutropenia Cellular immunodeficiency Recurrent respiratory infections Low-set ears Depressed nasal bridge Frontal bossing Ventriculomegaly Long philtrum Delayed skeletal maturation Cardiomyopathy Hyperkeratosis Bifid uvula Micropenis Perisylvian polymicrogyria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Retinal vascular tortuosity Duodenal stenosis Accommodative esotropia Conotruncal defect Alcoholism Abnormality of the thymus Right aortic arch Vascular tortuosity Impaired T cell function Lymphedema Dental crowding Esophoria Full cheeks Vesicoureteral reflux Abnormality of the skeletal system Neonatal hypotonia Pes planus Visual loss Autistic behavior Clinodactyly Hypospadias Depressivity Dolichocephaly Intellectual disability, mild Nausea and vomiting Sacral meningocele Thick eyebrow Brachydactyly Chromosomal breakage induced by ionizing radiation Telangiectasia Sleep disturbance Ataxia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Femoral hernia Seborrheic dermatitis Perimembranous ventricular septal defect High, narrow palate Broad thumb Primary amenorrhea Impaired pain sensation Low posterior hairline Palpebral edema Tetralogy of Fallot Amenorrhea Renal agenesis Chorea Iris coloboma Spina bifida Arachnoid cyst Generalized tonic-clonic seizures Microtia Short philtrum Bruxism Cerebellar cortical atrophy Blepharophimosis Hair-pulling Craniosynostosis Cleft lip Exotropia Hypoplastic toenails Pointed chin Meningocele Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Accelerated skeletal maturation Juvenile rheumatoid arthritis Myelomeningocele Truncus arteriosus Sclerocornea Sacral dimple Bicuspid aortic valve Bipolar affective disorder Posterior embryotoxon Recurrent skin infections Large hands Acne Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Gastroesophageal reflux Elevated hepatic transaminase Clinodactyly of the 5th finger Anterior plagiocephaly Prominent fingertip pads Biliary atresia Prolonged neonatal jaundice Micronodular cirrhosis Bronchomalacia Diaphragmatic eventration Unsteady gait Ureteropelvic junction obstruction Recurrent ear infections Asthma Trichorrhexis nodosa Decreased liver function Broad philtrum Hypsarrhythmia Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Leukopenia Recurrent aspiration pneumonia Overweight Prominent eyelashes Splenomegaly Hepatomegaly Sensorineural hearing impairment Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Liver abscess Epibulbar dermoid Sclerosing cholangitis Single ventricle Abnormality of the nervous system Abnormality of the liver Cirrhosis Crossed fused renal ectopia Anorectal anomaly Hepatic failure Hepatic steatosis Common atrium Vertebral clefting Scaphocephaly Hashimoto thyroiditis Hypoglycemia Joint hypermobility Blue sclerae Congenital diaphragmatic hernia Otitis media Narrow palpebral fissure Oligodontia Intestinal malrotation Eosinophilia Single transverse palmar crease Highly arched eyebrow Hirsutism Wide nose Anal atresia Recurrent otitis media Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Myopathic facies Hepatosplenomegaly Macrocephaly Malar flattening Small nail Cafe-au-lait spot Anal stenosis Preauricular pit Telecanthus IgA deficiency Thyroiditis Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Bilateral cryptorchidism Sparse and thin eyebrow Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Delayed ability to walk Abnormality of the vertebral column Arthritis Hyperlordosis Decreased testicular size Waddling gait Lymphoma Premature birth Migraine Gliosis Abnormal cerebellum morphology Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Stroke Proteinuria Lumbar hyperlordosis Osteopenia Headache Congestive heart failure Vomiting Cerebellar atrophy Hypertension Motor delay Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Nephrotic syndrome Intellectual disability, profound Abnormal thrombocyte morphology Glomerulonephritis Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Epiphyseal dysplasia Fine hair Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Impaired platelet aggregation Ulcerative colitis Transient ischemic attack Convex nasal ridge Cataract Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Aplasia/Hypoplasia affecting the eye Decreased circulating cortisol level Hyperphosphatemia Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Hypoplasia of penis Delayed myelination Fatigue Short foot Small hand Short palm Thin vermilion border Small for gestational age Low-set, posteriorly rotated ears Muscular hypotonia of the trunk High forehead Hypogonadism Prominent forehead Myopathy Visual impairment Blindness Abnormality of the optic nerve Basal cell carcinoma Hematochezia Ocular albinism Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Iris hypopigmentation Hypopigmentation of hair Freckling Colitis Prolonged bleeding time Restrictive ventilatory defect Pulmonary fibrosis Abdominal pain Albinism Melanoma Acanthosis nigricans Anorexia Thickened skin Epistaxis Gastrointestinal hemorrhage Nevus Abnormal bleeding Bruising susceptibility Dyspnea Weight loss Abnormality of the vasculature Thoracic kyphosis Retrognathia Atonic seizures Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Congenital ichthyosiform erythroderma Heat intolerance Absent septum pellucidum Mixed hearing impairment Absent eyebrow Keratitis Bifid scrotum Erythroderma Scaling skin Urticaria Abnormality of the hand Plagiocephaly Conjunctivitis Follicular hyperkeratosis Hypoplastic fingernail Multicystic kidney dysplasia Cerebral cortical hemiatrophy Abnormality of cardiovascular system morphology Behavioral abnormality Hypertonia Hydrocephalus Neoplasm Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Paronychia Recurrent corneal erosions Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Alopecia totalis Olivopontocerebellar atrophy Hemivertebrae Abnormality of the nail Ovoid vertebral bodies Multiple lentigines Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Intellectual disability, severe Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Respiratory distress Alopecia Hypoplasia of dental enamel Pulmonary hypoplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Eczema Postaxial hand polydactyly Nail dysplasia Ectodermal dysplasia Palmoplantar keratoderma Postaxial polydactyly Ichthyosis Cerebellar hypoplasia Dry skin Talipes Hypotrichosis Nail dystrophy Papule Camptodactyly of finger Erythema Camptodactyly Mental deterioration Polydactyly Cerebral cortical atrophy Hyperhidrosis Recurrent pyelonephritis



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