Hepatomegaly, and Inguinal hernia

Diseases related with Hepatomegaly and Inguinal hernia

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


Top matches:

High match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

High match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

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Other less relevant matches:

High match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

High match MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A


Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008).McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.

MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A Is also known as galactosamine-6-sulfatase deficiency|mps iva|galns deficiency|morquio a disease|morquio syndrome a

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hepatomegaly
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A

High match MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B


Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b|mps ivb

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B

High match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

High match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

High match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

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

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Corneal opacity Global developmental delay Widely spaced teeth Macroglossia Wide nasal bridge Pectus carinatum Hepatosplenomegaly Dysostosis multiplex Mandibular prognathia Joint laxity Skeletal dysplasia Visceromegaly Generalized hypotonia Intellectual disability Hypertelorism Kyphosis Hearing impairment High palate Cleft palate Epicanthus Abnormality of the dentition Ascites Frontal bossing Premature birth Hydrops fetalis Carious teeth Hernia

Rare Symptoms - Less than 30% cases


Coxa valga Genu valgum Platyspondyly Osteoporosis Wide mouth Hyperlordosis Expressive language delay Beaking of vertebral bodies Abnormal vertebral morphology Gingival overgrowth Opacification of the corneal stroma Abnormal heart valve morphology Recurrent upper respiratory tract infections Thoracolumbar kyphosis Sensorineural hearing impairment Full cheeks Proteinuria Short neck Vacuolated lymphocytes Cardiomegaly Osteopenia Congestive heart failure Anteverted nares Abnormality of the skeletal system Muscular hypotonia Failure to thrive Nystagmus Ataxia Abnormality of the nervous system Metaphyseal widening Prominent sternum Spondyloepiphyseal dysplasia Restrictive ventilatory defect Hoarse voice Hypoplasia of the odontoid process Ovoid vertebral bodies Disproportionate short-trunk short stature Cervical myelopathy Constricted iliac wings Ulnar deviation of the wrist Cervical subluxation Flaring of rib cage Grayish enamel Keratan sulfate excretion in urine Pointed proximal second through fifth metacarpals Protuberant abdomen Epiphyseal deformities of tubular bones Smooth philtrum Diastasis recti Low-set ears Pain Abnormal facial shape Syringomyelia Renal cyst Apnea Delayed speech and language development Patent ductus arteriosus Auricular pit Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Muscle weakness Hemihypertrophy Nevus flammeus Intellectual disability, mild Neonatal hypoglycemia Enlarged kidney Large for gestational age Abnormality of the outer ear Abnormality of the face Omphalocele Overgrowth Abnormality of the kidney Hypoglycemia Polyhydramnios Abnormal heart morphology Clinodactyly Cryptorchidism Ventricular septal defect Macrocephaly Polydactyly Elevated hepatic transaminase Functional motor deficit Tonsillitis Patent foramen ovale Preaxial polydactyly Dermatan sulfate excretion in urine Sparse eyebrow Mesomelia Nephronophthisis Cystic hygroma Cutaneous finger syndactyly Polysplenia Abnormality of mucopolysaccharide metabolism Postnatal growth retardation Chronic kidney disease Heparan sulfate excretion in urine Obstructive lung disease High anterior hairline Biliary cirrhosis Cholangitis Broad philtrum Cloverleaf skull Thenar muscle atrophy Bile duct proliferation Portal fibrosis Horizontal ribs Recurrent upper and lower respiratory tract infections Cutis laxa Flared nostrils Microdontia Abnormality of the pinna Craniosynostosis Sparse hair Blepharophimosis Dolichocephaly Narrow chest Stage 5 chronic kidney disease Abnormality of the Eustachian tube Everted lower lip vermilion Abnormality of nasopharyngeal adenoids Ectodermal dysplasia Limb undergrowth Plagiocephaly Postaxial hand polydactyly Restricted chest movement Narrow forehead Cholestasis Left ventricular hypertrophy Rhizomelia Hepatic fibrosis Short ribs Incisional hernia Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Metopic synostosis Mucopolysacchariduria Fused teeth Urinary incontinence Neurodegeneration Otitis media Abnormality of the skin Prominent nose Progressive cerebellar ataxia Waddling gait Progressive visual loss Choreoathetosis Laryngomalacia Slurred speech Hyperactive deep tendon reflexes Epiphyseal stippling Dysmetria Hand tremor Thoracic kyphosis Barrel-shaped chest Hirsutism Foam cells Facial edema Cherry red spot of the macula Bone-marrow foam cells Increased urinary O-linked sialopeptides Urinary excretion of sialylated oligosaccharides Gait disturbance Falls Abnormality of movement Conductive hearing impairment Bowel incontinence Wrist flexion contracture Clubbing of fingers Abnormality of the skull Papilledema Cataract Rhinitis Flexion contracture Visual impairment Short finger Peripheral neuropathy Hyperreflexia Skeletal muscle atrophy Mental deterioration Tremor Multiple joint contractures Prominent supraorbital ridges Cardiomyopathy Thickened skin Osteoarthritis Blindness Visual loss Dementia Abnormality of the cardiovascular system Myoclonus Dyspnea Telecanthus J-shaped sella turcica Retrognathia Chronic otitis media Arthritis Joint stiffness Prominent forehead Microtia Neurological speech impairment Abnormality of metabolism/homeostasis Malabsorption Thick vermilion border Dyskinesia Sleep disturbance Long philtrum Thickened calvaria Abdominal pain Abnormality of the ulna Macroorchidism Abnormal cortical bone morphology Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Cognitive impairment Postauricular pit Prune belly Tethered cord Pes planus Recurrent respiratory infections Skin tags Attention deficit hyperactivity disorder High, narrow palate Memory impairment Low posterior hairline Synophrys Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Episodic abdominal pain Delayed skeletal maturation Developmental regression Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Thin upper lip vermilion Hyperactivity Behavioral abnormality Short nose Abnormality of earlobe Abnormality of the vasculature High forehead Conjugated hyperbilirubinemia Respiratory tract infection Severe global developmental delay Abnormality of the foot Hypopigmentation of the skin Nephrotic syndrome Micropenis Aspiration Abnormality of the thorax Metaphyseal irregularity Esophageal atresia Fair hair Joint hypermobility Cerebral atrophy Fetal ascites Micrognathia Depressed nasal bridge Hypertension Brachydactyly Renal insufficiency Syndactyly Midface retrusion Pectus excavatum Rod-cone dystrophy Upslanted palpebral fissure Acidosis Dilatation Cerebellar atrophy Central hypotonia Neoplasm Neuroblastoma Supernumerary nipple Psoriasiform dermatitis Epiphyseal dysplasia Hypospadias Strabismus Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Corneal crystals Atlantoaxial dislocation Rhabdomyosarcoma Cervical cord compression Abnormality of the ureter Edema Chondroitin sulfate excretion in urine Large elbow Severe short stature Aortic valve stenosis Nephroblastoma Hip pain Decreased beta-galactosidase activity Intimal thickening in the coronary arteries Ptosis Facial asymmetry Autistic behavior Hydrocephalus Ridged cranial sutures



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