Immunodeficiency, and Hypotension

Diseases related with Immunodeficiency and Hypotension

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

Top matches:

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

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

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Other less relevant matches:

Low match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

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 Hypotension

Symptoms // Phenotype % cases
Hypertension Very Common - Between 80% and 100% cases
Pneumonia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Leukopenia Fatigue Myopathy Headache Diabetes mellitus Abdominal pain Thin skin Intellectual disability Premature ovarian insufficiency Venous thrombosis Lipodystrophy Pancytopenia Psychosis Arthritis Autoimmunity Skin rash Anemia Decreased antibody level in blood Seizures Generalized hirsutism Visual loss Edema Visual impairment

Rare Symptoms - Less than 30% cases

Generalized hyperpigmentation Round face Recurrent fractures Sleep disturbance Hirsutism Bruising susceptibility Infertility Lethargy Abnormality of the liver Anxiety Osteoporosis Depressivity Papule Lymphadenopathy Cardiomyopathy Mental deterioration Cataract Lymphedema Nephrolithiasis Recurrent skin infections Neoplasm Glomerulonephritis Metrorrhagia Onychomycosis Leukemia Vasculitis Purpura Pituitary adenoma Adrenal hyperplasia Bipolar affective disorder Aseptic necrosis Hypokalemia Telangiectasia of the skin Antinuclear antibody positivity Truncal obesity Menorrhagia Agitation Acne Membranoproliferative glomerulonephritis Encephalopathy Failure to thrive Pulmonary arterial hypertension Arthralgia Sensorineural hearing impairment Paraplegia Panniculitis Hemiparesis Combined immunodeficiency Thrombocytosis Ataxia Lymphopenia Nephrotic syndrome Peripheral neuropathy Loss of truncal subcutaneous adipose tissue Bilateral sensorineural hearing impairment Megaloblastic anemia Severe combined immunodeficiency Decreased serum complement C3 Macrocytic anemia Lipoatrophy Intellectual disability, severe Abnormality of the dentition Recurrent urinary tract infections Short nose Anisocytosis Metabolic acidosis Glomerulopathy Retinopathy Abnormality of lipid metabolism Pallor Antiphospholipid antibody positivity Acidosis Intellectual disability, mild Lymphocytosis Erythema nodosum Granulocytopenia Hemolytic-uremic syndrome Progressive loss of facial adipose tissue Insulin resistance Hypertrichosis Hypertriglyceridemia Nephropathy Hematuria Hepatic steatosis Loss of subcutaneous adipose tissue from upper limbs Feeding difficulties Proteinuria Alopecia Thiamine-responsive megaloblastic anemia Decreased methylcobalamin Polycystic ovaries Septic arthritis Lupus anticoagulant Asthenia Pure red cell aplasia Depressed nasal bridge Progeroid facial appearance Frontal bossing Respiratory distress Retinal arterial occlusion Folate deficiency Microscopic hematuria Ischemic stroke Recurrent respiratory infections Taurodontia Absent nipple Concave nail Anterior hypopituitarism Conical tooth Heat intolerance Anodontia Soft skin Hypohidrotic ectodermal dysplasia Absent eyelashes Rhinitis Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Anhidrotic ectodermal dysplasia Abnormal oral mucosa morphology Absent eyebrow Hemiplegia Ophthalmoplegia Stroke Myalgia Elevated hepatic transaminase Hepatosplenomegaly Dilatation Splenomegaly Everted upper lip vermilion Optic atrophy Hepatomegaly Pain Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Anhidrosis Brittle hair Prominent forehead Everted lower lip vermilion Hypercoagulability Immune dysregulation Hypodontia Hypoplasia of the maxilla Foot dorsiflexor weakness Delayed eruption of teeth Thick vermilion border Raynaud phenomenon Short distal phalanx of finger Dry skin Hypotrichosis Sparse hair Respiratory tract infection Hyperhidrosis Ectodermal dysplasia Underdeveloped nasal alae Prominent supraorbital ridges Hypohidrosis Dysphonia Sparse eyelashes Short chin Type I diabetes mellitus Hoarse voice Sparse and thin eyebrow Cutis marmorata Microdontia Depressed nasal ridge Cerebral hemorrhage Sparse scalp hair Leukocytosis Eczema Aphasia Elevated erythrocyte sedimentation rate Vomiting Macule Abnormal natural killer cell morphology Tubular atrophy Personality changes Emotional lability Adrenal insufficiency Impotence Abnormality of color vision Bowel incontinence Axonal degeneration Bulbar palsy Primary adrenal insufficiency Loss of speech Urinary bladder sphincter dysfunction Adrenal hypoplasia Dyschromatopsia Achalasia Incoordination Spinocerebellar tract degeneration Cerebral edema Vegetative state Myelopathy Decreased circulating aldosterone level Progressive spastic paraparesis Mania Psychotic episodes Monochromacy Blue cone monochromacy Elevated long chain fatty acids Cone monochromacy Muscle weakness Abnormality of mitochondrial metabolism Slurred speech Kyphosis Paralysis Spasticity Cognitive impairment Abnormality of the skeletal system Ventricular septal defect Blindness Behavioral abnormality Thrombocytopenia Dementia Hypogonadism Hyperactivity Gait ataxia Reduced visual acuity EEG abnormality Attention deficit hyperactivity disorder Spastic paraparesis Spastic paraplegia Abnormality of the cerebral white matter Retinal dystrophy Neurodegeneration Polyneuropathy Abnormal cerebellum morphology Urinary incontinence Peripheral demyelination Limb ataxia Hyperpigmentation of the skin Leukodystrophy Truncal ataxia Paraparesis Skeletal muscle atrophy Obesity Recurrent mycobacterium avium complex infections Bone marrow hypocellularity Lymphoproliferative disorder Abnormality of the spleen Cellular immunodeficiency Skin nodule Venous insufficiency Generalized lymphadenopathy Skin plaque Susceptibility to herpesvirus Neoplasm by anatomical site Hypothyroidism Neutropenia Otitis media Recurrent otitis media Spontaneous abortion Abnormality of the gastrointestinal tract Myelodysplasia Myeloid leukemia Acute myeloid leukemia Severe sensorineural hearing impairment Aplastic anemia Recurrent viral infections Verrucae B lymphocytopenia Recurrent fungal infections Alveolar proteinosis Severe viral infections Chronic myelomonocytic leukemia Monocytopenia Abnormality of the lower limb Abnormal retinal morphology Osteopenia Primary hypercortisolism Memory impairment Increased body weight Orthostatic hypotension Striae distensae Subarachnoid hemorrhage Increased circulating cortisol level Neoplasm of the endocrine system Abdominal obesity Decreased circulating ACTH level Mood changes Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Renal insufficiency Hypermelanotic macule Systemic lupus erythematosus Rheumatoid arthritis Fatigable weakness Angioedema Discoid lupus rash Vasculitis in the skin Diarrhea Weight loss Lymphoma Gastrointestinal hemorrhage Abnormal lung morphology Neoplasm of the skin Hemangioma Sarcoma Central retinal artery occlusion


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