Anemia, and Umbilical hernia

Diseases related with Anemia and Umbilical hernia

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


Top matches:

Medium match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Medium match PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

Medium match LYSOSOMAL ACID LIPASE DEFICIENCY


Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

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Other less relevant matches:

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Medium 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

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Medium match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Top 5 symptoms//phenotypes associated to Anemia and Umbilical hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abdominal pain Macrocephaly Hypertelorism Inguinal hernia Low-set ears Depressed nasal bridge Short nose Macroglossia Shawl scrotum Pain Hypertension Failure to thrive Abnormal facial shape Seizures Hypospadias Proptosis Pectus excavatum Diarrhea Short neck Malar flattening Hepatomegaly Clinodactyly Protruding tongue Brachydactyly Wide nasal bridge Ventricular septal defect Flat face Pulmonic stenosis Increased intracranial pressure Radial deviation of finger Hepatosplenomegaly

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Hyperactivity Epicanthus Downslanted palpebral fissures Ambiguous genitalia Flexion contracture Postnatal growth retardation Dental malocclusion Hemivertebrae Cyanosis Triangular mouth Dyspnea Strabismus Congestive heart failure Respiratory distress Scoliosis Behavioral abnormality Micropenis Pneumonia Ileus Abnormality of the genital system Abnormality of the face Recurrent urinary tract infections Volvulus Joint laxity Delayed cranial suture closure Short palm Ptosis Frontal bossing Recurrent respiratory infections Microcephaly Hearing impairment Growth delay Communicating hydrocephalus Midface retrusion Posteriorly rotated ears Hypodontia Hydronephrosis Sensorineural hearing impairment Micrognathia Generalized hypotonia Pulmonary arterial hypertension Cirrhosis Developmental regression Jaundice Ascites Epistaxis Protuberant abdomen Malnutrition Vomiting Portal hypertension Malabsorption Polymicrogyria Normocytic anemia Short foot Joint hypermobility Single transverse palmar crease Short middle phalanx of the 5th finger Cleft upper lip Vaginal atresia Hypoplasia of the maxilla Delayed puberty Round face Generalized-onset seizure Rib fusion Hypermetropia Broad foot Nevus flammeus Double outlet right ventricle Thoracolumbar scoliosis Large earlobe Widow's peak Short 5th finger Genu recurvatum Hypoplasia of the odontoid process Lymphedema Macrocytic anemia Broad palm Interstitial pulmonary abnormality Mild short stature Missing ribs Hypoplastic labia majora Bifid tongue Delayed eruption of permanent teeth Pes planus Attention deficit hyperactivity disorder Short digit Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Anisopoikilocytosis Right ventricular outlet obstruction Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hyperplasia of the maxilla Right atrial isomerism Bifid distal phalanx of toe Camptodactyly Renal duplication Hyperextensibility of the finger joints Alopecia Abnormal heart morphology Clitoral hypoplasia Depressivity Obesity Syndactyly Intellectual disability, mild Cleft palate Mesomelic short stature Broad toe Forearm undergrowth Aplasia/Hypoplasia involving the metacarpal bones Thoracic hemivertebrae Hypoplastic sacrum Absent uvula Duplication of the distal phalanx of hand Broad philtrum Endometriosis Osteochondritis Dissecans Coxa valga Hydroureter Spastic diplegia Tented upper lip vermilion Infantile muscular hypotonia Drooling Thin upper lip vermilion Aspiration Male pseudohermaphroditism Aganglionic megacolon Thick lower lip vermilion Wide mouth Renal agenesis Tapered finger Everted lower lip vermilion Thick vermilion border Microcytic anemia Facial hypotonia Abnormal cardiac septum morphology Severe short stature Hypoganglionosis Reduced alpha/beta synthesis ratio Intrauterine growth retardation Long philtrum Widely-spaced maxillary central incisors Delayed skeletal maturation Retrognathia Chronic constipation Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Perimembranous ventricular septal defect Hypochromic microcytic anemia Skeletal dysplasia Decreased serum testosterone level Microtia Inspiratory stridor Increased number of teeth Cervical spine hypermobility Talipes equinovarus Disproportionate short-limb short stature Dysphagia Feeding difficulties Spasticity Mesomelia Curved linear dimple below the lower lip Hypertonia Increased upper to lower segment ratio External genital hypoplasia Vertebral fusion Hemoglobin H Prominent umbilicus Long palpebral fissure Frontoparietal polymicrogyria Intellectual disability, severe Cerebral atrophy Confusion Irritability Wide nose Small hand Nail dysplasia Limb undergrowth Broad thumb Dental crowding Intellectual disability, moderate Abnormality of metabolism/homeostasis Long eyelashes Telecanthus Gingival overgrowth Gastroesophageal reflux Wide anterior fontanel Abnormal vertebral morphology Constipation Hypochromic anemia Renal diverticulum Thoracolumbar kyphosis Neoplasm Chest pain Vertigo Cough Stroke Carcinoma Headache Fatigue Adrenal calcification Telangiectasia Bone-marrow foam cells Periportal fibrosis Low-grade fever Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Esophageal varix Acute hepatic failure Gastrointestinal hemorrhage Diplopia Steatorrhea Rectal prolapse Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Hamartomatous polyposis Stomach cancer Intestinal polyposis Hypokalemia Clubbing of fingers Hematochezia Hemoptysis Polycythemia Hamartoma Colon cancer Clubbing Hypoalbuminemia Abnormality of lipid metabolism Cachexia Immunodeficiency Neuroblastoma Facial asymmetry Visual loss Refractory anemia Impaired platelet aggregation Acute monocytic leukemia Acute leukemia Acute lymphoblastic leukemia Acute myeloid leukemia Hemangioma Prolonged bleeding time Myelodysplasia Purpura Lymphoma Abnormal bleeding Neutropenia Bruising susceptibility Leukemia Paraplegia Elevated alkaline phosphatase Hypercholesterolemia Hepatic failure Hyperlipidemia Atherosclerosis Increased body weight Leukodystrophy Hepatic fibrosis Hypertriglyceridemia Abdominal distention Hepatic steatosis Scarring Precocious puberty Weight loss Splenomegaly Fever Facial hyperostosis Diastasis recti Spinal cord compression Hiatus hernia Gingival bleeding Hepatic vascular malformations Recurrent infections Increased mean corpuscular volume Supravalvular aortic stenosis Kyphosis Edema Abnormality of the skeletal system Optic atrophy Thrombocytopenia Bowel diverticulosis Arterial fibromuscular dysplasia Congenital hemolytic anemia Mandibular prognathia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Prominent forehead Coarse facial features Prematurely aged appearance Tachypnea Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Distal arthrogryposis Pericardial effusion Heart murmur Recurrent upper respiratory tract infections Progressive hearing impairment Aggressive behavior Thickened skin Mitral regurgitation Recurrent otitis media Mitral valve prolapse Abnormality of the cardiovascular system Limitation of joint mobility Tachycardia Joint stiffness Pulmonary artery stenosis Progressive sensorineural hearing impairment High forehead Combined immunodeficiency Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Agammaglobulinemia Bronchitis Recurrent pneumonia Arrhythmia Lymphopenia Sinusitis Bronchiectasis Otitis media Decreased antibody level in blood Sepsis Neurodegeneration Respiratory tract infection Dilatation Osteoporosis Emphysema Oligohydramnios Epiphyseal dysplasia Aortic aneurysm Redundant skin Shock Cutis laxa Wormian bones Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Overgrowth Hypothyroidism Vesicoureteral reflux Full cheeks Recurrent fractures Hemolytic anemia Arachnodactyly Joint hyperflexibility Hip dislocation Arthralgia Cervical agenesis



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