Immunodeficiency, and Pheochromocytoma

Diseases related with Immunodeficiency and Pheochromocytoma

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

Top matches:

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

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

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

Other less relevant matches:

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

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Pheochromocytoma

Symptoms // Phenotype % cases
Cataract Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Recurrent fractures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Round face Generalized hirsutism Splenomegaly Hypertension Respiratory tract infection Recurrent respiratory infections Venous thrombosis Abdominal pain Visual loss Osteoporosis Lipodystrophy Generalized hyperpigmentation Headache Recurrent infections Scoliosis Growth delay Lymphadenopathy Neurofibromas Truncal obesity Telangiectasia of the skin Aseptic necrosis Decreased antibody level in blood

Rare Symptoms - Less than 30% cases

Kyphosis Intellectual disability, moderate Fever Anemia Meningioma Capillary hemangioma Abnormal intestine morphology Fatigue Leukemia Lymphopenia Seizures Interstitial pneumonitis Thrombocytopenia Hirsutism Abnormality of skin pigmentation Pancytopenia Hypoplasia of the maxilla Otitis media Recurrent upper respiratory tract infections Cardiomyopathy Hyperkeratosis Keloids Carious teeth Lymphoma Intellectual disability Visual impairment Myopathy Depressivity Ptosis Respiratory distress Hypokalemia Premature ovarian insufficiency Downslanted palpebral fissures Acne Menorrhagia Syndactyly Strabismus Bipolar affective disorder Adrenal hyperplasia Abnormal facial shape Metrorrhagia Pituitary adenoma Onychomycosis Abnormality of the dentition Recurrent skin infections Nephrolithiasis Hearing impairment Proptosis Anxiety Lethargy Glaucoma Short stature Infertility Microcephaly Bruising susceptibility Constipation Clinodactyly of the 5th finger Sleep disturbance Psychosis Thin skin Low-set ears Autoimmune hemolytic anemia Combined immunodeficiency Recurrent sinusitis Interstitial pulmonary abnormality IgA deficiency Colitis Fatigable weakness Cor pulmonale Autoimmune thrombocytopenia Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Villous atrophy Brain neoplasm Verrucae Immune dysregulation IgM deficiency Gastritis Generalized lymphadenopathy Follicular hyperplasia Burkitt lymphoma Hypertelorism Inflammation of the large intestine Increased circulating cortisol level Clubbing Striae distensae Moon facies Mood changes Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Pain Subarachnoid hemorrhage Orthostatic hypotension Macronodular adrenal hyperplasia Agitation Increased body weight Memory impairment Hypotension Mental deterioration Osteopenia Obesity Dorsocervical fat pad Primary hypercortisolism Purpura Asthma Conjunctivitis Type I diabetes mellitus Chronic diarrhea Bronchiectasis Abnormal lung morphology Recurrent otitis media Inflammatory abnormality of the skin Neutropenia Diarrhea Hemolytic anemia Autoimmunity Arthritis Hepatosplenomegaly Hypothyroidism Respiratory failure Pneumonia Congestive heart failure Nystagmus Confusion Depressed nasal bridge Hemihypertrophy Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Abnormality of the neck Thrombophlebitis Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Papilledema Exostoses Lipoma Neoplasm of the lung Vascular skin abnormality Generalized hyperkeratosis Irregular hyperpigmentation Facial hyperostosis Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Nevus sebaceous Narrow internal auditory canal Neoplasm of the central nervous system Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Testicular neoplasm Upper limb asymmetry Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Abnormal lung lobation Spinal canal stenosis Myopia Facial asymmetry Epidermal acanthosis High myopia Overgrowth Nevus Gliosis Sudden cardiac death Abdominal distention Renal cyst Polymicrogyria Long face Skeletal muscle atrophy Dolichocephaly Abnormal form of the vertebral bodies Hip dislocation Finger syndactyly Craniosynostosis Joint stiffness Carcinoma Skeletal dysplasia Kyphoscoliosis Macrotia Abnormality of cardiovascular system morphology Anteverted nares Optic atrophy Macrocephaly Open mouth Heterotopia Pulmonary embolism Cachexia Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Melanocytic nevus Chorioretinal coloboma Growth abnormality Subcutaneous nodule Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Abnormality of dental enamel Abnormality of the nail Abnormal vertebral morphology Sinusitis Lymphedema Abnormality of retinal pigmentation Thickened skin Edema Nail pits Muscle weakness Stereotypy Laryngomalacia Bicuspid aortic valve Spina bifida occulta Narrow palate Low anterior hairline Wide anterior fontanel Cafe-au-lait spot Exotropia Dental crowding Broad hallux Long eyelashes Hypoplasia of dental enamel Broad thumb Aganglionic megacolon Mitral regurgitation Low posterior hairline Coarctation of aorta Convex nasal ridge Prominent nose Impulsivity Delayed cranial suture closure Single transverse palmar crease Short attention span Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Hypoplastic iliac wing Congenital glaucoma Low hanging columella Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Neuroblastoma Dislocated radial head Dental malocclusion Highly arched eyebrow Broad distal phalanx of finger Frontal bossing Arrhythmia Patent ductus arteriosus Pectus excavatum Hypospadias Behavioral abnormality Atrial septal defect Ventricular septal defect Dysphagia Wide nasal bridge Delayed skeletal maturation Hyperreflexia Epicanthus Delayed speech and language development High palate Flexion contracture Cryptorchidism Muscular hypotonia Micrognathia Generalized hypotonia Abnormal heart morphology Agenesis of corpus callosum Iris coloboma Joint laxity Thick eyebrow Joint hypermobility Unsteady gait Pulmonic stenosis Coloboma Postnatal growth retardation Abnormality of the pinna Feeding difficulties in infancy Abnormality of the kidney Deeply set eye Hyperactivity EEG abnormality Thin upper lip vermilion Pes planus Retrognathia Gastroesophageal reflux Polyhydramnios Autism Narrow mouth Polydactyly Rhabdomyosarcoma Phonophobia Recurrent bacterial infections Hypermelanotic macule Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Aplasia/Hypoplasia of the skin Skin vesicle Macule Abnormality of coagulation Periodontitis Premature graying of hair Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Hypopigmented skin patches Neoplasm of the skin Abnormality of the fingernails Taurodontia White hair Skin ulcer Aplastic/hypoplastic toenail Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Rough bone trabeculation Porokeratosis Abnormality of neutrophils Abnormality of the testis Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Ridged nail Aplastic anemia Oral leukoplakia Bone marrow hypocellularity Hepatic fibrosis Tethered cord Duplication of phalanx of hallux Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Dyscalculia Papillary cystadenoma of the epididymis Chorioretinal dystrophy Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Enlarged tonsils High axial triradius Hyperpigmentation of the skin Nail dystrophy Cerebral calcification Specific learning disability Abnormal blistering of the skin Nail dysplasia Hypodontia Palmoplantar keratoderma Hepatic failure Cirrhosis Malabsorption Sparse hair Abnormal number of teeth Hyperhidrosis Cerebellar hypoplasia Alopecia Intrauterine growth retardation Hepatomegaly Ataxia Global developmental delay Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormality of immune system physiology


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