Hepatomegaly, and Wide mouth

Diseases related with Hepatomegaly and Wide mouth

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

Top matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Other less relevant matches:

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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

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 OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Wide mouth

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Wide mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Skeletal dysplasia Joint stiffness Flexion contracture Generalized hypotonia Coarse facial features Muscular hypotonia Anteverted nares Frontal bossing Splenomegaly Failure to thrive Dysostosis multiplex Aortic valve stenosis Respiratory insufficiency Long philtrum Corneal opacity Inguinal hernia Hearing impairment Kyphosis Ovoid vertebral bodies Short neck Congestive heart failure Mandibular prognathia Platyspondyly Genu valgum Growth delay Coxa valga Severe short stature Recurrent upper respiratory tract infections Microcephaly Oligohydramnios Short philtrum Hepatosplenomegaly Short nose Edema Hypertelorism Delayed skeletal maturation Abnormal facial shape

Rare Symptoms - Less than 30% cases

Mitral stenosis Hyperlordosis Hypertension Carious teeth Cryptorchidism Camptodactyly of finger Ascites Ataxia Hypospadias Joint laxity Acidosis 3-Methylglutaconic aciduria Aciduria Opacification of the corneal stroma Respiratory failure Hyperammonemia Flat occiput Lactic acidosis Scoliosis Increased serum lactate Encephalopathy Cerebellar atrophy Hypertrophic cardiomyopathy Intellectual disability Cervical cord compression Retrognathia Osteoporosis Cardiomegaly Restrictive ventilatory defect Widely spaced teeth Short foot Pointed proximal second through fifth metacarpals Constricted iliac wings Broad thumb Aortic regurgitation Situs inversus totalis Hydrops fetalis Wide anterior fontanel Limb undergrowth Asthma Keratan sulfate excretion in urine Small hand Short palm Synophrys Small for gestational age Abnormality of the kidney Atrial septal defect Pectus excavatum Intrauterine growth retardation Epiphyseal deformities of tubular bones Cardiomyopathy Grayish enamel Apnea Cervical subluxation Metaphyseal widening Ulnar deviation of the wrist Flaring of rib cage Cervical myelopathy Spondyloepiphyseal dysplasia Disproportionate short-trunk short stature Full cheeks Prominent sternum Short long bone Hypoplasia of the odontoid process Vertebral hypoplasia Disproportionate short-limb short stature Micromelia Hypoplastic vertebral bodies Narrow chest Relative macrocephaly Recurrent pneumonia Rhizomelia Hypoplastic ischia Tapered finger Short metacarpal Renal phosphate wasting Metaphyseal cupping Abnormality of epiphysis morphology Large fontanelles Blue sclerae Flat acetabular roof Abnormality of the metaphysis Delayed epiphyseal ossification Bell-shaped thorax Prominent supraorbital ridges Hypophosphatemia Metaphyseal irregularity Protuberant abdomen Esotropia Anterior rib cupping Wrist flexion contracture Cataract Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis J-shaped sella turcica Tip-toe gait Hypoplasia of the capital femoral epiphysis Tremor Thickened helices Lack of skin elasticity Tracheal stenosis Right ventricular hypertrophy High pitched voice Bilateral talipes equinovarus Toe walking Wide nasal bridge Arrhythmia Bicuspid aortic valve Microretrognathia Gastroparesis Hyperalaninemia Moderate global developmental delay Abnormal aortic valve morphology Encephalitis Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Intention tremor Cerebral cortical atrophy Pulmonary arterial hypertension Interphalangeal joint contracture of finger Premature birth Flat face Intellectual disability, moderate Neonatal hypotonia Umbilical hernia Cone-shaped epiphysis Joint contracture of the hand Hypoplastic pubic bone Hip dislocation Decreased fetal movement Epileptic encephalopathy Wide intermamillary distance Delayed myelination Brain atrophy Hepatic failure Poor speech Abnormal cardiac septum morphology Tricuspid regurgitation Brachycephaly Hyperreflexia Cognitive impairment Posterior rib cupping Severe platyspondyly Squared iliac bones Abnormally ossified vertebrae Lipodystrophy Cutis marmorata Thickened skin Upslanted palpebral fissure Small nail Ventricular hypertrophy Round face Smooth philtrum Talipes Thin upper lip vermilion Osteopenia Dilatation Global brain atrophy Talipes equinovarus Delayed CNS myelination Nonimmune hydrops fetalis Central hypotonia Inverted nipples Aplasia cutis congenita Pericardial effusion Respiratory tract infection Pectus carinatum Polyhydramnios Cerebral palsy Visual impairment Abnormality of the skeletal system Pes cavus Glaucoma Retinal degeneration Wide nose Thick vermilion border Everted lower lip vermilion Syncope Limitation of joint mobility Spastic paraparesis Sleep apnea Abnormality of glutamine metabolism Stridor Rhinitis Obstructive sleep apnea Spinal cord compression Broad face Spondylolisthesis Constrictive median neuropathy Abnormality of peripheral nerve conduction Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Tricuspid atresia Sensorineural hearing impairment Increased serum bile acid concentration Dysphagia Telangiectasia Anemia Ventricular septal defect Thrombocytopenia Patent ductus arteriosus Hydronephrosis Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Coarctation of aorta Pancytopenia Hepatic fibrosis Abnormality of the clitoris Decreased liver function Cutis laxa Deep philtrum Poor suck Patent foramen ovale Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Dysarthria Diarrhea Recurrent respiratory infections Avascular necrosis of the capital femoral epiphysis Cardiac arrest Spontaneous abortion Severe muscular hypotonia Rocker bottom foot Severe failure to thrive Severe lactic acidosis Abnormality of the dentition Epiphyseal dysplasia Abnormal heart valve morphology Beaking of vertebral bodies Multiple epiphyseal dysplasia Corneal crystals Metabolic acidosis Atlantoaxial dislocation Chondroitin sulfate excretion in urine Large elbow Pain Abnormality of the nervous system Abnormal vertebral morphology Thoracolumbar kyphosis Hip pain Decreased beta-galactosidase activity Intimal thickening in the coronary arteries Brachydactyly Macrocephaly Renal hypoplasia Pulmonic stenosis Behavioral abnormality Progressive hearing impairment Absent speech Prominent forehead Hyperactivity Difficulty walking Aggressive behavior Thick eyebrow Hirsutism Sleep disturbance Thick lower lip vermilion Hypertrichosis Chronic diarrhea Drooling Prominent nasal bridge Coarse hair Growth abnormality Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Micrognathia Feeding difficulties Abnormality of cardiovascular system morphology Abnormal heart morphology Camptodactyly Abnormal pulmonary valve morphology


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