Immunodeficiency, and Lymphedema

Diseases related with Immunodeficiency and Lymphedema

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

Top matches:

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Medium 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

Other less relevant matches:

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

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Medium match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Medium 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

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Lymphedema

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ectodermal dysplasia Bone marrow hypocellularity Intellectual disability Anemia Sensorineural hearing impairment Osteopetrosis Macrocephaly Global developmental delay Pancytopenia Optic atrophy Pneumonia Visual loss Neoplasm Thrombocytopenia Edema

Rare Symptoms - Less than 30% cases

Verrucae Hypertelorism Retinal detachment Scoliosis Nevus Myelodysplasia Myeloid leukemia Growth delay Increased bone mineral density Leukopenia Tapered finger Nystagmus Failure to thrive Increased susceptibility to fractures Feeding difficulties Abnormality of the skeletal system Webbed neck Abnormality of the dentition Pallor Visual impairment Malabsorption Cerebellar atrophy Microcephaly Recurrent fractures Short stature Nausea and vomiting Epicanthus Hyperpigmentation of the skin Scarring Acute myeloid leukemia Ptosis Hydronephrosis Pulmonary arterial hypertension Lymphadenopathy Hyperostosis Papule Skin rash Bulbous nose Wide nasal bridge Weight loss Abnormality of the gastrointestinal tract Dental malocclusion Generalized osteosclerosis Hypertension Delayed eruption of teeth Recurrent bacterial infections Leukemia Fatigue Conical tooth Hypohidrotic ectodermal dysplasia Deeply set eye Umbilical hernia Joint dislocation Mandibular prognathia Hypocalcemia Hepatosplenomegaly Arthritis Facial palsy Abnormality of epiphysis morphology Paralysis Carious teeth Genu valgum Short distal phalanx of finger Bone pain Neurodegeneration Osteoarthritis Abnormality of the metaphysis Neonatal hypotonia Recurrent urinary tract infections Hypoplastic toenails Proptosis Autistic behavior Hair-pulling Impaired pain sensation Palpebral edema Large hands Recurrent skin infections Sacral dimple Accelerated skeletal maturation Pointed chin Abnormality of the metacarpal bones Arachnoid cyst Bruxism Cerebellar cortical atrophy Hypohidrosis Dental crowding Recurrent pyelonephritis Dilatation Long eyelashes Renal dysplasia Micrognathia Muscle weakness Vesicoureteral reflux Full cheeks Frontal bossing Sleep disturbance Thick eyebrow Hydrocephalus Blindness Hypermetropia Dolichocephaly Cranial nerve paralysis Abnormality of the vertebral endplates Abnormality of pelvic girdle bone morphology Ascites Abnormal intestine morphology Progressive microcephaly Exotropia Bilateral sensorineural hearing impairment Narrow forehead Dandy-Walker malformation Renal agenesis Highly arched eyebrow Tented upper lip vermilion Downturned corners of mouth Smooth philtrum Pulmonic stenosis Synophrys Short philtrum Abnormal cardiac septum morphology Wide mouth Widely spaced teeth Hypoalbuminemia Thin upper lip vermilion Mild microcephaly Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Retinal dysplasia Sparse eyebrow Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Unilateral renal agenesis Proximal placement of thumb Camptodactyly Reduced visual acuity Osteomyelitis Lumbar scoliosis Ataxia Generalized hypotonia Gastroesophageal reflux Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Cranial hyperostosis Cryptorchidism Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Facial paralysis Abnormal cranial nerve morphology Aseptic necrosis Rhinitis Abnormal facial shape Low-set ears Cerebral cortical atrophy Hypospadias Upslanted palpebral fissure Prominent forehead Posteriorly rotated ears Cerebellar hypoplasia Inguinal hernia Patent ductus arteriosus Clinodactyly Hernia Flexion contracture Absent speech Midface retrusion Long philtrum Behavioral abnormality Hypoplasia of the corpus callosum Ventriculomegaly Downslanted palpebral fissures Macrotia Hemivertebrae Hyperactivity Osteopenia B lymphocytopenia Recurrent fungal infections Panniculitis Alveolar proteinosis Severe viral infections Chronic myelomonocytic leukemia Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Muscular hypotonia Brachydactyly Short neck Severe short stature Osteoporosis Coarse facial features Aplastic anemia Skin ulcer Abnormality of the musculature Telangiectasia of the skin Steatorrhea Abnormality of dental morphology Urticaria Polycystic ovaries Gingival overgrowth Joint stiffness Chronic diarrhea Thickened skin Subcutaneous nodule Short palm Micromelia Camptodactyly of finger Recurrent viral infections Severe sensorineural hearing impairment Abnormality of the adrenal glands Lymphoproliferative disorder Anhidrotic ectodermal dysplasia Diarrhea Encephalopathy Abnormality of the liver Lymphoma Gastrointestinal hemorrhage Abnormal lung morphology Neoplasm of the skin Hemangioma Sarcoma Hypermelanotic macule Abnormal retinal morphology Macule Abnormality of the lower limb Abnormality of the spleen Venous thrombosis Neutropenia Spontaneous abortion Lymphopenia Recurrent otitis media Nephrotic syndrome Otitis media Decreased antibody level in blood Hypothyroidism Cellular immunodeficiency Neoplasm by anatomical site Susceptibility to herpesvirus Skin plaque Generalized lymphadenopathy Venous insufficiency Skin nodule Osteomalacia Aplasia/Hypoplasia of the thymus Agenesis of corpus callosum Hypoplasia of the fovea Hypopigmentation of the skin Hypodontia Tetraplegia Nail dysplasia Abnormal blistering of the skin Fine hair Eosinophilia Coarse hair Keratitis Supernumerary nipple Hypoplastic nipples Uveitis Pustule Abnormality of the vasculature Anodontia Nail dystrophy Hyperpigmented streaks Clinodactyly of the 5th finger Obesity Malar flattening Delayed speech and language development Atrophic, patchy alopecia Retinal vascular proliferation Nail pits Ridged nail Retinal hemorrhage Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Thick nail Abnormality of skin pigmentation Sparse hair Hepatomegaly Cirrhosis Intracranial hemorrhage Hypotelorism Migraine Hematuria Hemolytic anemia Bruising susceptibility Vertigo Leukocytosis Neurological speech impairment Respiratory failure Recurrent respiratory infections Syndactyly Splenomegaly Respiratory insufficiency Chronic otitis media Prolonged bleeding time Erythema Abnormal neutrophil count Kyphoscoliosis Hyperkeratosis Alopecia Microphthalmia Spasticity Cataract Macronodular cirrhosis Cellulitis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Acute leukemia Eversion of lateral third of lower eyelids


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