Immunodeficiency, and Cone/cone-rod dystrophy

Diseases related with Immunodeficiency and Cone/cone-rod dystrophy

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Cone/cone-rod dystrophy that can help you solving undiagnosed cases.

Top matches:

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

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

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low 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

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Related symptoms:

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD

Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Abnormality of skin pigmentation
  • Cone/cone-rod dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 35; RP35

Top 5 symptoms//phenotypes associated to Immunodeficiency and Cone/cone-rod dystrophy

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Cone/cone-rod dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Microcephaly Retinal dystrophy Postnatal growth retardation Agenesis of corpus callosum EEG abnormality Failure to thrive Ventricular septal defect Respiratory tract infection Hypospadias Recurrent infections Epicanthus Low-set ears Blindness Lymphopenia Sensorineural hearing impairment Muscular hypotonia Ataxia

Rare Symptoms - Less than 30% cases

Congestive heart failure Dementia Hypogonadism Hyperactivity Recurrent pneumonia Meningitis Sinusitis Feeding difficulties in infancy Fatigue Myopathy Thin upper lip vermilion Clinodactyly of the 5th finger Delayed speech and language development Cardiomyopathy Lymphadenopathy Otitis media Sepsis Neutropenia Micrognathia Single transverse palmar crease Respiratory distress Dilatation Abnormality of color vision Hyperreflexia Cataract Anemia Neurodegeneration Encephalopathy Ptosis Thrombocytopenia Bronchitis Scoliosis Hypertelorism Strabismus Cryptorchidism Myelopathy Intrauterine growth retardation Downslanted palpebral fissures Nyctalopia Polydactyly Anteverted nares Recurrent upper respiratory tract infections Visual impairment Behavioral abnormality Edema Abnormal cerebellum morphology Recurrent bacterial infections Peripheral neuropathy High palate Long philtrum Spasticity Neoplasm Agammaglobulinemia White matter neuronal heterotopia Severe T-cell immunodeficiency Acute bronchitis Penile hypospadias Flexion contracture Immunoglobulin IgG2 deficiency Delayed skeletal maturation Hypertension Aplasia/Hypoplasia of the macula Glaucoma Narrow mouth Autism Abnormal heart morphology Arrhythmia Patent ductus arteriosus Pectus excavatum Wide nasal bridge Constipation Proptosis Syndactyly Abnormality of the dentition Atrial septal defect Dysphagia Frontal bossing Ureteral atresia Recurrent viral infections Decreased T cell activation Combined immunodeficiency Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Neurodevelopmental delay Albinism Depressed nasal tip Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Increased body weight Aspiration Progressive microcephaly Decreased liver function Severe failure to thrive Ocular albinism Cutaneous anergy Abnormality of the mandible Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Pontocerebellar atrophy Renal tubular dysfunction Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Gastroesophageal reflux Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Polyhydramnios Aganglionic megacolon Retrognathia Pheochromocytoma Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Short upper lip Abnormality of refraction Flared iliac wings Dyslexia Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Obstructive sleep apnea Parietal foramina Bimanual synkinesia Patellar dislocation Premature thelarche Scotoma Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Narrow maxilla Frontal upsweep of hair Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Self-mutilation Poor coordination Pes planus Thick eyebrow Coarctation of aorta Convex nasal ridge Prominent nose Dental malocclusion Hypoplasia of the maxilla Recurrent fractures Highly arched eyebrow Iris coloboma Hirsutism Joint hypermobility Mitral regurgitation Unsteady gait Pulmonic stenosis Leukemia Coloboma Abnormality of the pinna Abnormality of the kidney Intellectual disability, moderate Joint laxity Deeply set eye Low posterior hairline Decreased body weight Overweight Laryngomalacia Shawl scrotum Neuroblastoma Dislocated radial head Neurofibromas Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Bicuspid aortic valve Broad thumb Spina bifida occulta Narrow palate Low anterior hairline Wide anterior fontanel Cafe-au-lait spot Exotropia Stereotypy Dental crowding Long eyelashes Hypoplasia of dental enamel Abnormality of retinal pigmentation Feeding difficulties Left ventricular hypertrophy Achalasia Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Vegetative state Cerebral edema Spinocerebellar tract degeneration Tubular atrophy Elevated long chain fatty acids Dyschromatopsia Adrenal hypoplasia Urinary bladder sphincter dysfunction Loss of speech Primary adrenal insufficiency Bulbar palsy Axonal degeneration Bowel incontinence Blue cone monochromacy Cone monochromacy Adrenal insufficiency Abnormal lung morphology Recurrent skin infections Hypopigmented skin patches Conjunctivitis Hypocalcemia Skin ulcer Telangiectasia Chronic diarrhea Recurrent urinary tract infections Hepatitis Fever Malabsorption Skin rash Retinopathy Autoimmunity Arthritis Weight loss Alopecia Depressivity Diarrhea Impotence Emotional lability Rheumatoid arthritis Schistocytosis Visual loss Abnormality of the skeletal system Cognitive impairment Hypoplastic ischia Tapetoretinal degeneration Flat face Conductive hearing impairment Short nose Sideroblastic anemia Reduced visual acuity Hypochromic microcytic anemia Anemia of inadequate production Microcytic anemia Brittle hair Aminoaciduria Nephrocalcinosis Lactic acidosis Cerebral atrophy Gait ataxia Mental deterioration Personality changes Limb ataxia Abnormality of mitochondrial metabolism Incoordination Slurred speech Spastic paraparesis Paraparesis Truncal ataxia Leukodystrophy Hyperpigmentation of the skin Hemiparesis Paralysis Psychosis Peripheral demyelination Hypotension Urinary incontinence Polyneuropathy Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Attention deficit hyperactivity disorder Encephalitis Chronic otitis media Heterotopia Ventriculomegaly Coarse facial features Acidosis Respiratory failure Cerebral cortical atrophy Recurrent respiratory infections Cerebellar hypoplasia Hypertonia Cerebellar atrophy Optic atrophy Muscular hypotonia of the trunk Depressed nasal bridge Motor delay Cleft palate Muscle weakness Nystagmus Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Hypertrophic cardiomyopathy Cleft lip Humoral immunodeficiency Hypopigmentation of the skin Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Ventricular hypertrophy Hypotelorism Narrow forehead Delayed myelination Triangular face Sleep disturbance Joint stiffness High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Polymicrogyria Cleft upper lip Congenital cataract Dilated cardiomyopathy Severe global developmental delay Prominent eyelashes Short digit Osteomyelitis Epididymitis Intellectual disability, mild Vomiting Brachydactyly Hepatomegaly Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Abnormality of the tonsils Clinodactyly Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Glossoptosis Cellulitis Splenomegaly Hepatosplenomegaly Pulmonary edema Tachypnea Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Eosinophilia Narrow palpebral fissure Tachycardia Finger clinodactyly Short toe Recurrent otitis media Cardiomegaly Eczema Underdeveloped nasal alae Short metacarpal Premature birth Downturned corners of mouth Abnormality of skin pigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Arthritis, related diseases and genetic alterations Ptosis and Epileptic encephalopathy, related diseases and genetic alterations Obesity and Depressed nasal bridge, related diseases and genetic alterations