Immunodeficiency, and Congenital cataract

Diseases related with Immunodeficiency and Congenital cataract

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

Top matches:

High match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI 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

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Other less relevant matches:

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C 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

Low match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Top 5 symptoms//phenotypes associated to Immunodeficiency and Congenital cataract

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Scoliosis Cleft palate Abnormal facial shape Global developmental delay Hypertelorism Micrognathia Short neck Hearing impairment Autoimmunity Microcephaly Cleft lip Pneumonia Seizures Arthritis Hemolytic anemia Abnormality of the hand Postnatal growth retardation Low posterior hairline Bifid uvula Renal agenesis Tetralogy of Fallot High, narrow palate Bipolar affective disorder Posterior embryotoxon Autoimmune hemolytic anemia Acne Unilateral renal agenesis Dilatation Hypospadias Inguinal hernia Abnormality of cardiovascular system morphology Growth delay Anemia Delayed speech and language development Fever Ventricular septal defect Low-set ears High palate Hydrocephalus Abnormality of the kidney Atrial septal defect High forehead Depressed nasal bridge Obesity Abnormal heart morphology Patent ductus arteriosus Myopathy Kyphosis Thrombocytopenia

Rare Symptoms - Less than 30% cases

Abnormality of the pinna Arnold-Chiari malformation Bicuspid aortic valve Purpura Hypocalcemia Spina bifida Depressivity Renal dysplasia Primary amenorrhea Hypoplasia of the corpus callosum Psychosis Blepharophimosis Hypothyroidism Retrognathia Amenorrhea Specific learning disability Chorea Posteriorly rotated ears Anxiety Bulbous nose Behavioral abnormality Anal atresia Iris coloboma Pulmonic stenosis Mental deterioration Schizophrenia Pierre-Robin sequence Nasal speech Glaucoma Abnormality of the skeletal system Right aortic arch with mirror image branching Sacral meningocele Nail dysplasia Brachydactyly Intrauterine growth retardation Macrocephaly Short nose Osteoporosis Narrow mouth Aplasia of the thymus Kyphoscoliosis Skeletal dysplasia Micromelia Erythema Arthralgia Round face Broad thumb Horseshoe kidney Congenital glaucoma Arteria lusoria Conotruncal defect Cholelithiasis Truncus arteriosus Rheumatoid arthritis Psoriasiform dermatitis Hydronephrosis Inflammation of the large intestine Autoimmune thrombocytopenia Vitiligo Hypoparathyroidism Flexion contracture Meningocele Myelomeningocele Oral cleft Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Cognitive impairment Umbilical hernia Polymicrogyria Cerebellar atrophy Feeding difficulties Motor delay Epicanthus Optic atrophy Ventriculomegaly Anteverted nares Respiratory distress Cardiomyopathy Cleft upper lip Hypertonia Hypoplasia of the thymus Recurrent bacterial infections Cerebellar hypoplasia Open mouth Cerebellar vermis hypoplasia Recurrent respiratory infections Respiratory failure Decreased antibody level in blood Feeding difficulties in infancy Sleep disturbance Joint stiffness Ptosis Failure to thrive Sensorineural hearing impairment Abnormality of the thymus Radioulnar dislocation Dystonia Blindness Premature ovarian insufficiency Flattened epiphysis Hypoplastic vertebral bodies Menorrhagia Vertebral clefting Dysphagia Long upper lip Decreased serum complement factor I Loss of eyelashes Discoid lupus rash Macroscopic hematuria Truncal obesity IgA deposition in the glomerulus Membranoproliferative glomerulonephritis Facial erythema Intellectual disability, mild Lipodystrophy Glomerulopathy Onychomycosis Bruising susceptibility Recurrent fractures Generalized osteoporosis Thin skin Mild global developmental delay Generalized dystonia Coronal cleft vertebrae Nephrolithiasis Open angle glaucoma Generalized hirsutism Macroglossia Venous thrombosis Neurodegeneration Recurrent skin infections Hypokalemia Broad femoral neck Small for gestational age Microscopic hematuria Glomerulonephritis Keratitis Cellulitis Aseptic necrosis Immune dysregulation Phalangeal dislocation Ulcerative colitis Corneal erosion Supernumerary metacarpal bones IgA deficiency Colitis Recurrent sinopulmonary infections Abnormal blistering of the skin Multiple carpal ossification centers Proximal fibular overgrowth Adrenal hyperplasia Splayed fingers Broad first metatarsal Medial deviation of the foot Generalized hyperpigmentation Partial duplication of the distal phalanx of the hallux Pituitary adenoma Multiple joint dislocation Advanced ossification of carpal bones Systemic lupus erythematosus Meningitis Hepatitis Hematuria Nephropathy Skin rash Proteinuria IgM deficiency Telangiectasia of the skin Large joint dislocations Renal insufficiency Bifid distal phalanx of the thumb Advanced tarsal ossification Interstitial pneumonitis Bronchiolitis Enterocolitis Pain Abnormality of the hip bone Hypoplastic scapulae Contractures of the large joints Abnormal mitral valve morphology Aplasia/Hypoplasia of the nipples Complete atrioventricular canal defect Lethal skeletal dysplasia Abnormal tricuspid valve morphology Growth hormone deficiency Abnormality of the fontanelles or cranial sutures Intestinal malrotation Posterior fossa cyst Generalized joint laxity Limb undergrowth Postural instability Facial hemangioma Humoral immunodeficiency Cerebellar malformation Primum atrial septal defect Neoplasm Strabismus Microphthalmia Telecanthus Craniosynostosis Dandy-Walker malformation Hypoplastic fingernail Attention deficit hyperactivity disorder Preauricular skin tag Prominent occiput Hypoplastic left heart Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Narrow palate Wormian bones Hemivertebrae Aortic valve stenosis Large fontanelles Mitral stenosis Atrioventricular canal defect Narrow nasal bridge Adrenal hypoplasia Double outlet right ventricle Missing ribs Single umbilical artery Ectopic anus Enlarged cisterna magna Communicating hydrocephalus Hypoplasia of penis Toe syndactyly Short philtrum Bulbar signs Hypertension Gastroesophageal reflux Parathyroid agenesis Type I truncus arteriosus Brachycephaly Visual impairment Prominent forehead Alopecia Syndactyly Frontal bossing Downslanted palpebral fissures Wide nasal bridge Camptodactyly Fatigue Headache Visual loss Diabetes mellitus Abdominal pain Externally rotated hips Lethargy Infertility Mesomelia Achalasia Parathyroid hypoplasia Decreased circulating parathyroid hormone level Microtia Tetany Generalized tonic-clonic seizures Finger syndactyly Neurological speech impairment Astigmatism Coarctation of aorta Short palpebral fissure Broad forehead Amblyopia Exotropia Sclerocornea Prominent nasal bridge Accommodative esotropia Anterior segment developmental abnormality Femoral hernia Abnormal cardiac septum morphology Coloboma Alcoholism Sparse hair Perisylvian polymicrogyria Abnormality of the middle ear Vascular tortuosity Esophoria Short 1st metacarpal Unilateral primary pulmonary dysgenesis Flat acetabular roof Severe failure to thrive Cellular immunodeficiency Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Aspiration pneumonia Recurrent fungal infections IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Hypopigmentation of the fundus Abnormal posturing Combined immunodeficiency Abnormal immunoglobulin level Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Frontoparietal polymicrogyria Granulocytopenia Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Neurodevelopmental delay Albinism Absent speech Acidosis Wide nose Pulmonary hypoplasia Dilated cardiomyopathy Severe global developmental delay Respiratory tract infection Muscular hypotonia of the trunk Hypertrophic cardiomyopathy EEG abnormality Coarse facial features Cerebral cortical atrophy Neutropenia Rod-cone dystrophy Agenesis of corpus callosum Long philtrum Congestive heart failure Hyperreflexia Peripheral neuropathy Spasticity Muscle weakness Nystagmus Thick vermilion border Hypopigmentation of the skin Congenital sensorineural hearing impairment Decreased liver function Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Increased body weight Aspiration Lymphopenia Progressive microcephaly Abnormality of retinal pigmentation Triangular face Decreased body weight Left ventricular hypertrophy Heterotopia Progressive neurologic deterioration Ventricular hypertrophy Hypotelorism Narrow forehead Delayed myelination Sepsis Intellectual disability, severe Hernia Irregular vertebral endplates Clinodactyly Smooth philtrum Narrow chest Platyspondyly Hyperlordosis Joint laxity Pes planus Osteopenia Proptosis Severe short stature Midface retrusion Short distal phalanx of finger Malar flattening Edema Talipes equinovarus Myopia Intermittent diarrhea Recurrent lower respiratory tract infections Amelogenesis imperfecta Hypoplasia of the iris Episodic fever Flat face Renal cyst Sarcoma Microretrognathia Protuberant abdomen Cystic hygroma Thoracic hypoplasia Short femoral neck Metaphyseal widening Short metatarsal Genu varum Disproportionate short-limb short stature Sandal gap Coxa vara Abdominal distention Joint dislocation Coxa valga Rhizomelia Bowing of the long bones Osteoarthritis Depressed nasal ridge Wide intermamillary distance Waddling gait Short metacarpal Anhidrosis Abnormality of dental enamel Dementia Holoprosencephaly Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Narrow palpebral fissure Hearing abnormality Multicystic kidney dysplasia Hallucinations Peripheral demyelination Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Aggressive behavior Conductive hearing impairment Hyperactivity Anal stenosis Delusions Recurrent pneumonia Congenital conductive hearing impairment Hypohidrosis Hypoplasia of dental enamel Nephrotic syndrome Eczema Asthma Lymphadenopathy Hepatosplenomegaly Diarrhea Unilateral lung agenesis Perineal fistula Echolalia Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Metrorrhagia


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