Anemia, and Inguinal hernia

Diseases related with Anemia and Inguinal hernia

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


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Medium match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

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Other less relevant matches:

Medium match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Medium match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Medium match TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME


Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC 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 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hernia Seizures Short stature Ascites Tachypnea Hypospadias Behavioral abnormality Arthralgia Micrognathia Low-set ears Sensorineural hearing impairment Edema Hypochromic anemia Intrauterine growth retardation Generalized hypotonia Gastroesophageal reflux Recurrent infections Hypertension Feeding difficulties

Rare Symptoms - Less than 30% cases


Hepatosplenomegaly Syndactyly Developmental regression Clinodactyly Pectus excavatum Anteverted nares Long philtrum Tapered finger Diarrhea Myopia Wide nasal bridge Narrow mouth Ptosis Smooth philtrum Hip dislocation Osteoporosis Abnormality of the vertebral column Coarse facial features Abnormality of the kidney Depressed nasal bridge Ataxia Abnormal vertebral morphology Spondyloepiphyseal dysplasia Umbilical hernia Abnormality of the face Mitral regurgitation Mandibular prognathia Polyhydramnios High myopia Hip dysplasia Hypothyroidism Microcephaly Abnormal facial shape Macrocephaly Portal hypertension Cerebral atrophy Vomiting Respiratory insufficiency Cholestasis Hypertelorism Respiratory distress Atrial septal defect Thrombocytopenia Osteopenia Joint laxity Pulmonary arterial hypertension Oligohydramnios High palate Vasculitis Wormian bones Muscle stiffness Conjunctivitis Cutis laxa Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Shock Redundant skin Aortic aneurysm Meningitis Prematurely aged appearance Epiphyseal dysplasia Bladder diverticulum Vascular tortuosity Peripheral demyelination Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Ileus Cor pulmonale Emphysema Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Cranial nerve paralysis Progressive sensorineural hearing impairment Delayed cranial suture closure Overgrowth Optic neuritis Intestinal obstruction Lymphocytosis Peritonitis Dilatation Congestive heart failure Recurrent pharyngitis Elevated C-reactive protein level Periorbital edema Chills Recurrent respiratory infections Pleuritis Neuritis Fasciitis Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Conjunctival hyperemia Arrhythmia Abnormal myocardium morphology Leukocytosis Joint hyperflexibility Hypermelanotic macule Elevated erythrocyte sedimentation rate Erysipelas Full cheeks Recurrent fractures Hemolytic anemia Arachnodactyly Macule Myositis Pulmonic stenosis Cellulitis Amyloidosis Pericarditis Episodic fever Uveitis Reticulocytosis Vesicoureteral reflux Decreased testicular size Congenital hemolytic anemia Recurrent upper respiratory tract infections Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Protruding tongue Pericardial effusion Heart murmur Increased intracranial pressure Beaking of vertebral bodies Progressive hearing impairment Thickened skin Recurrent otitis media Mitral valve prolapse Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Macroglossia Edema of the lower limbs Communicating hydrocephalus Joint stiffness Anisopoikilocytosis Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Urinary glycosaminoglycan excretion Increased mean corpuscular volume 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 Inspiratory stridor Thoracolumbar kyphosis Tachycardia Postnatal growth retardation Supravalvular aortic stenosis Rod-cone dystrophy Dolichocephaly Abnormal cardiac septum morphology Protruding ear Camptodactyly Neonatal hypotonia Thin upper lip vermilion Gait ataxia Cerebellar hypoplasia Toe syndactyly Absent speech Brachydactyly Epicanthus Delayed speech and language development Scoliosis Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Hypermetropia Single transverse palmar crease Aggressive behavior Frontal bossing Kyphoscoliosis Dyspnea Proptosis Hyperactivity Prominent forehead Kyphosis Short neck Abnormality of the skeletal system Optic atrophy Febrile seizures Hepatomegaly Central hypothyroidism Mild microcephaly Cutaneous syndactyly Microretrognathia Progressive microcephaly Dental crowding Chest pain Migraine Anophthalmia Bruising susceptibility Hypoparathyroidism Severe short stature Visual loss Short 2nd finger Long toe Moderate global developmental delay Sparse lateral eyebrow Down-sloping shoulders Microcytic anemia Skeletal dysplasia Preauricular skin tag Hypoplasia of dental enamel Low posterior hairline Webbed neck Dental malocclusion Hypodontia Craniosynostosis Myoclonus Abnormality of the nervous system Brachycephaly Dysostosis multiplex Mucopolysacchariduria Vacuolated lymphocytes Conjunctival telangiectasia Hemophagocytosis Visceromegaly Foam cells Nonimmune hydrops fetalis Hemangioma Mental deterioration Aortic regurgitation Opacification of the corneal stroma Hydrops fetalis Telangiectasia Progressive neurologic deterioration Cardiomegaly Inability to walk Corneal opacity Wide mouth Upslanted palpebral fissure Arthralgia of the hip Cirrhosis Rickets Hypoalbuminemia Hypocalcemia Decreased liver function Abnormal lung morphology Pancytopenia Hepatic steatosis Abnormality of eye movement Bile duct proliferation Cough Abnormality of the liver Abnormality of the eye Elevated hepatic transaminase Deeply set eye Hypoglycemia Failure to thrive Interstitial pulmonary abnormality Vitamin D deficiency Dysphagia Homocystinuria Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Horizontal ribs Abnormal posturing Methylmalonic aciduria Anasarca Bell-shaped thorax Coarctation of aorta Wide intermamillary distance Aciduria Neutropenia Lethargy Small scrotum Vitamin A deficiency Angiokeratoma Cherry red spot of the macula Hepatic failure Absent thumb Femoral hernia Anotia Aqueductal stenosis Abnormality of the optic nerve Single umbilical artery Esophageal atresia Occipital encephalocele Tracheoesophageal fistula Radial club hand Hypoplasia of the radius Renal hypoplasia/aplasia Abnormality of the outer ear Hemivertebrae Spina bifida Encephalocele Abnormal form of the vertebral bodies Arrhinencephaly Absence of the sacrum Renal agenesis Arthritis Nausea Vertigo Lymphadenopathy Paresthesia Papule Skin rash Erythema Myalgia Abnormality of the fallopian tube Abdominal pain Constipation Headache Splenomegaly Fever Pain Neoplasm Microtia, third degree Renal hypoplasia Microcornea Decreased beta-galactosidase activity Hypotelorism Shallow orbits Steatorrhea Hyperglycemia Adducted thumb Arnold-Chiari malformation Chronic diarrhea Large fontanelles Hepatitis Diastasis recti Short foot Arthrogryposis multiplex congenita Prominent nasal bridge High forehead Immunodeficiency Renal insufficiency Ventriculomegaly Flexion contracture Severe postnatal growth retardation Breech presentation Pulmonary hypoplasia Cleft palate Anal atresia Retrognathia Respiratory failure Abnormal heart morphology Abnormality of cardiovascular system morphology Microphthalmia Hydrocephalus Increased urinary sedoheptulose Recurrent hypoglycemia Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Postprandial hyperglycemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Abnormality of nasopharyngeal adenoids



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