Hepatomegaly, and Thick vermilion border

Diseases related with Hepatomegaly and Thick vermilion border

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

Top matches:

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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

Other less relevant matches:

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

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 COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

High match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Thick vermilion border

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Joint stiffness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Thick vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Thrombocytopenia Macroglossia Wide nasal bridge Short neck Hepatosplenomegaly Skeletal dysplasia Fever Congestive heart failure Muscular hypotonia Anemia Failure to thrive Generalized hypotonia Cardiomegaly Abnormal facial shape Elevated hepatic transaminase Thick lower lip vermilion Full cheeks Depressed nasal bridge Anteverted nares Dysostosis multiplex Behavioral abnormality Apnea Abnormality of the skeletal system Hearing impairment Flexion contracture Abnormality of the liver Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Synophrys Prominent forehead Diarrhea Hirsutism Sleep disturbance Coarse hair Growth abnormality Scoliosis Wide nose Short nose Recurrent respiratory infections Short stature Arthritis Cholestasis Cerebral calcification Epicanthus Osteopenia Myoclonus Optic atrophy Hyperreflexia Spasticity Cataract Delayed myelination Pectus carinatum Proteinuria Recurrent infections Cerebral atrophy Growth delay Microcephaly Vascular skin abnormality Beaking of vertebral bodies Gingival overgrowth Micrognathia Abnormal heart morphology Wide mouth Intellectual disability, mild Thickened skin Sleep apnea Microcytic anemia Elevated erythrocyte sedimentation rate Muscle weakness Increased antibody level in blood Skeletal muscle atrophy Respiratory insufficiency Arrhythmia Erythema nodosum Hyperhidrosis Macrotia Arthralgia Abnormal pyramidal sign Skin rash Lipodystrophy Arthrogryposis multiplex congenita Prominent nose Lymphadenopathy Clubbing of fingers Long philtrum Bulbous nose Mandibular prognathia Lymphopenia Psychomotor deterioration Increased urinary O-linked sialopeptides Oligosacchariduria Long-tract signs Elbow flexion contracture Babinski sign Angiokeratoma corporis diffusum Progressive psychomotor deterioration Angiokeratoma Diffuse white matter abnormalities Vegetative state Bone pain Generalized amyotrophy Edema Erythema Scarring Camptodactyly of finger Recurrent pneumonia Inability to walk Hypertriglyceridemia Clonus Hyperpigmentation of the skin Telecanthus Hypoplastic acetabulae Pain Barrel-shaped chest Hip dislocation Abnormality of the foot Hepatic steatosis Brain atrophy Brachydactyly Abnormal lung morphology Long eyelashes Joint contracture of the hand Bone marrow hypocellularity Glomerulosclerosis Focal segmental glomerulosclerosis Tubular atrophy Respiratory tract infection Patent ductus arteriosus Pectus excavatum Large forehead Flared iliac wings Atrial septal defect Acetabular dysplasia Macrovesicular hepatic steatosis J-shaped sella turcica Cardiomyopathy Respiratory distress Obstructive lung disease Conjunctivitis Rimmed vacuoles Glucose intolerance Intrahepatic cholestasis Hypoplasia of penis Horseshoe kidney Hyperbilirubinemia Opacification of the corneal stroma Arnold-Chiari malformation Elevated alkaline phosphatase Portal hypertension Bilateral talipes equinovarus Pathologic fracture Biparietal narrowing Prominent metopic ridge Postaxial foot polydactyly Meningocele Myelomeningocele Thick upper lip vermilion Narrow forehead Abnormal platelet morphology Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Cerebellar cortical atrophy Acanthocytosis Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Sloping forehead Postaxial hand polydactyly Long fingers Ptosis Hypermelanotic macule Basal ganglia calcification Lymphedema Myositis Abnormally large globe Immune dysregulation Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Panniculitis Episcleritis Stiff skin Finger swelling Adipose tissue loss High palate Specific learning disability Toe syndactyly Microcornea Downturned corners of mouth Postaxial polydactyly Hepatic failure Thin vermilion border Talipes Conductive hearing impairment Hypertension Polydactyly Osteoporosis Syndactyly Talipes equinovarus Downslanted palpebral fissures Intrauterine growth retardation Cerebral visual impairment Respiratory failure Generalized-onset seizure Drooling Frontal bossing Dysphagia Absent speech Episodic fever Hyperactivity Difficulty walking Aggressive behavior Lipoatrophy Thick eyebrow Hypertrichosis Chronic diarrhea Progressive hearing impairment Recurrent upper respiratory tract infections Clubbing of toes Right bundle branch block Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Hyperostosis Hypertelorism Delayed speech and language development Abnormality of the dentition Inguinal hernia Delayed skeletal maturation Subcutaneous nodule Dysarthria Low-set ears Pes planus Spinal cord compression Genu valgum Retinal degeneration Everted lower lip vermilion Syncope Limitation of joint mobility Aortic valve stenosis Situs inversus totalis Spastic paraparesis Aortic regurgitation Cerebral palsy Stridor Rhinitis Obstructive sleep apnea Glaucoma Abnormality of the Leydig cells Mitral stenosis Broad face Spondylolisthesis Constrictive median neuropathy Abnormality of peripheral nerve conduction Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Tricuspid atresia Pes cavus Visual impairment Sensorineural hearing impairment Umbilical hernia Abnormality of the face Generalized myoclonic seizures Intellectual disability, severe Distal arthrogryposis Premature skin wrinkling Areflexia of lower limbs Abnormal glycosylation Mild proteinuria Nystagmus Strabismus Round face Small hand Cognitive impairment Peripheral neuropathy Dyspnea Blindness Protruding tongue Constipation Cerebellar hypoplasia Corneal opacity Cerebral cortical atrophy Autism Gastroesophageal reflux Pneumonia Developmental regression Severe global developmental delay Abnormality of the cerebral white matter Congenital cataract Vertigo Tetraplegia Inverted nipples Abnormality of immune system physiology Microtia Abnormality of amino acid metabolism Neurological speech impairment Carious teeth Malabsorption Dyskinesia Abnormal vertebral morphology Chronic otitis media Thickened calvaria Abnormality of the ulna Macroorchidism Arachnodactyly Abnormal cortical bone morphology Large face Anterior beaking of lumbar vertebrae Aspartylglucosaminuria Adducted thumb Feeding difficulties Areflexia Subglottic stenosis Jaundice Pulmonary artery stenosis Epiphyseal dysplasia Hoarse voice Abnormality of the pinna Flat face Polyneuropathy Mitral regurgitation Dehydration Limb undergrowth Abnormality of the thoracic spine


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