Anemia, and Lymphedema

Diseases related with Anemia and Lymphedema

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


Top matches:

Low match HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD


HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Related symptoms:

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


SOURCES: OMIM MENDELIAN

More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

Low match MPI-CDG


MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Low match MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS


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

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Other less relevant matches:

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


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

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


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

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Top 5 symptoms//phenotypes associated to Anemia and Lymphedema

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Global developmental delay Splenomegaly Recurrent infections Seizures Vomiting Immunodeficiency Short stature Scoliosis Protein-losing enteropathy Micrognathia Hypoalbuminemia Hypothyroidism Cirrhosis Pancytopenia Abnormal intestine morphology Bone marrow hypocellularity Failure to thrive Intellectual disability Ascites

Rare Symptoms - Less than 30% cases


Acute myeloid leukemia Obesity Weight loss Abdominal pain Alopecia Intellectual disability, mild Short nose Fatigue Genu valgum Macrocephaly Verrucae Myeloid leukemia Hypocalcemia Cataract Pain Muscle weakness Neoplasm Carious teeth Proptosis Tapered finger Cryptorchidism Abnormality of the fingernails Cellulitis Brachydactyly Growth delay Osteomyelitis Strabismus Recurrent respiratory infections Visual loss Ventricular septal defect Syndactyly Myelodysplasia Abnormal facial shape Webbed neck Hemolytic anemia Pectus excavatum Fever Epicanthus Short neck Camptodactyly Ptosis Visual impairment Downslanted palpebral fissures Hepatosplenomegaly Leukopenia Nonimmune hydrops fetalis Generalized edema Hepatic failure Malabsorption Intestinal lymphangiectasia Peripheral edema Facial edema Sensorineural hearing impairment Hypertension Pneumonia Leukemia Generalized hypotonia Varicose veins Atrial septal defect Pericardial effusion Hernia Hydrops fetalis Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Elevated erythrocyte sedimentation rate Hypoplasia of the zygomatic bone Petechiae Increased antibody level in blood Chronic lung disease Concave nasal ridge White forelock Abnormality of the middle ear Prolonged neonatal jaundice Hirsutism Poliosis Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Papule Nystagmus Volvulus Large earlobe Widow's peak Short 5th finger Genu recurvatum Optic atrophy Frontal bossing Abnormality of the skeletal system Hydrocephalus Facial hirsutism Reduced bone mineral density Psoriasiform dermatitis Thin skin Palmoplantar keratoderma Asthma Prominent umbilicus Convex nasal ridge Dehydration Hepatitis Low posterior hairline Dry skin Increased upper to lower segment ratio Arachnodactyly Cutaneous photosensitivity Depressed nasal ridge Inflammatory abnormality of the skin Abnormal lung morphology Systemic lupus erythematosus Abnormality of retinal pigmentation Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Curved linear dimple below the lower lip Recurrent pneumonia Abnormality of the dentition Generalized hirsutism Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Broad philtrum Pruritus Blindness Facial palsy Dilatation Abnormality of the vertebral endplates Single transverse palmar crease Hypodontia Hypoplasia of the maxilla Round face Flexion contracture Cleft palate Mandibular osteomyelitis Short palm Generalized-onset seizure Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Abnormality of the genital system Lumbar scoliosis Short foot Polymicrogyria Skin rash Joint hypermobility Pulmonic stenosis Delayed puberty Cleft upper lip Attention deficit hyperactivity disorder Joint laxity Pes planus Umbilical hernia Wide nasal bridge Hyperactivity Inguinal hernia Abnormal heart morphology Clinodactyly Depressivity Behavioral abnormality Anteverted nares Cranial hyperostosis Fractures of the long bones Mandibular prognathia Recurrent fractures Increased intracranial pressure Radial deviation of finger Mild short stature Interstitial pulmonary abnormality Broad palm Macrocytic anemia Neurodegeneration Osteoarthritis Shawl scrotum Hypoplasia of the odontoid process Short distal phalanx of finger Broad foot Paralysis Hypermetropia Arthritis Ectodermal dysplasia Abnormality of the metaphysis Extramedullary hematopoiesis Hyperostosis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Rhinitis Increased susceptibility to fractures Recurrent urinary tract infections Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Joint dislocation Increased bone mineral density Bone pain Abnormality of epiphysis morphology Hip osteoarthritis Abnormal neutrophil count Erythema Abnormality of skin pigmentation Aplastic anemia Recurrent viral infections 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 Autoimmunity Nail dystrophy Paresthesia Nail dysplasia Venous thrombosis Sparse body hair Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Colon cancer Anorexia Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypokalemia Cachexia Hyperpigmentation of the skin Severe sensorineural hearing impairment Spontaneous abortion Clubbing of fingers Hepatic steatosis Abnormality of the coagulation cascade Hepatic fibrosis Chronic diarrhea Gastrointestinal hemorrhage Abnormal bleeding Coma Abnormality of the liver Hypoproteinemia Apnea Hypoglycemia Muscular hypotonia Pulmonary edema Cystic hygroma Congenital diaphragmatic hernia Hyperinsulinemic hypoglycemia Villous atrophy Lymphopenia Lymphangiectasis Recurrent otitis media Pulmonary arterial hypertension Nephrotic syndrome Otitis media Decreased antibody level in blood Neutropenia Reduced factor XI activity Congenital hepatic fibrosis Reduced antithrombin III activity Secretory diarrhea Microvesicular hepatic steatosis Type I transferrin isoform profile Enterocolitis Abnormal thrombosis Dystrophic toenail Furrowed tongue Elevated hepatic transaminase Respiratory distress Abnormal cardiac septum morphology Dyspnea Patent ductus arteriosus Long philtrum Talipes equinovarus Intrauterine growth retardation Macronodular cirrhosis Decreased fetal movement Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Acute leukemia Pulmonary hypoplasia Cholestasis Leukocytosis Depressed nasal bridge High forehead Hyperkeratosis Prominent forehead Abnormality of metabolism/homeostasis Malar flattening Intellectual disability, severe Delayed speech and language development Large fontanelles High palate Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Tachypnea Decreased liver function Prolonged bleeding time Chronic otitis media Dystrophic fingernails Polyhydramnios Periorbital edema Spherocytosis Hydrocele testis Deep venous thrombosis Cupped ear Gastroesophageal reflux Decreased taste sensation Stomatocytosis Gastrointestinal carcinoma Glossitis Patchy alopecia Hamartomatous polyposis Stomach cancer Intestinal polyposis Chylothorax Prune belly Intracranial hemorrhage Nausea and vomiting Hypotelorism Migraine Hematuria Bruising susceptibility Lymphadenopathy Vertigo Neurological speech impairment Pulmonary lymphangiectasia Scarring Pallor Respiratory failure Cerebellar atrophy Respiratory insufficiency Genital edema Cervical spine hypermobility



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Neutropenia, related diseases and genetic alterations Melanoma and Syncope, related diseases and genetic alterations Edema and Congenital diaphragmatic hernia, related diseases and genetic alterations Visual impairment and Sleep disturbance, related diseases and genetic alterations Micrognathia and Delayed puberty, related diseases and genetic alterations

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