Hepatomegaly, and Genu valgum

Diseases related with Hepatomegaly and Genu valgum

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


Top matches:

High match OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS


Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

High match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

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

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Other less relevant matches:

High match CLASSIC HOMOCYSTINURIA


Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

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 BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

High match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

High match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

High match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Top 5 symptoms//phenotypes associated to Hepatomegaly and Genu valgum

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Corneal opacity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Metaphyseal widening Osteoporosis Kyphosis Depressed nasal bridge Skeletal dysplasia Visual impairment Coarse facial features Mandibular prognathia Carious teeth Scoliosis Cervical myelopathy Elevated hepatic transaminase Dysostosis multiplex Hypothyroidism Aortic valve stenosis Ovoid vertebral bodies Hypoplasia of the odontoid process Recurrent upper respiratory tract infections Cervical cord compression Glaucoma Prominent sternum Apnea Joint stiffness Wide mouth Disproportionate short-trunk short stature Abnormality of the skeletal system Opacification of the corneal stroma Anemia Inguinal hernia

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Cerebral calcification Nephrolithiasis Vomiting Abnormality of the dentition Reduced bone mineral density Constricted iliac wings Joint laxity Rickets Global developmental delay Hyperlordosis Abnormal heart valve morphology Recurrent fractures Epiphyseal deformities of tubular bones Pointed proximal second through fifth metacarpals Widely spaced teeth Keratan sulfate excretion in urine Grayish enamel Thrombocytopenia Flaring of rib cage Cervical subluxation Ulnar deviation of the wrist Optic atrophy Sleep apnea Progressive neurologic deterioration Retinopathy Obstructive sleep apnea Corneal crystals Venous thrombosis Cataract High palate Abnormal facial shape Skin ulcer Hepatosplenomegaly Respiratory distress Hydrocephalus Blindness Renal insufficiency Obesity Coxa valga Arachnodactyly Nyctalopia Retinal degeneration Delayed puberty Stage 5 chronic kidney disease Pectus carinatum Hirsutism Constrictive median neuropathy Platyspondyly Muscle weakness Restrictive ventilatory defect Fever Chronic kidney disease Cardiomyopathy Spondyloepiphyseal dysplasia Aseptic necrosis Dehydration Diabetes mellitus Abnormality of retinal pigmentation Hernia Epiphyseal dysplasia Osteomyelitis Petechiae Increased antibody level in blood Low anterior hairline Psoriasiform dermatitis Recurrent respiratory infections Skin rash Erythema High forehead Proptosis Hyperkeratosis Prominent forehead Abnormality of metabolism/homeostasis Pruritus Recurrent infections Malar flattening Short nose Intellectual disability, mild Diarrhea Downslanted palpebral fissures Delayed speech and language development Papule Dry skin Systemic lupus erythematosus Abnormal lung morphology Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Abnormality of the hip bone Lymphedema Thin skin Palmoplantar keratoderma Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Hepatitis Convex nasal ridge Asthma Elevated erythrocyte sedimentation rate Cerebral atrophy Aplasia/Hypoplasia of the skin Elevated intracellular cystine Macroglossia Tetraplegia Dolichocephaly Umbilical hernia Edema Macrocephaly Flexion contracture Oral motor hypotonia Hip dysplasia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Recurrent corneal erosions Waddling gait Spastic tetraplegia Male hypogonadism Hypoplastic iliac wing Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical instability Retinal fold Myelopathy Flared iliac wings Broad ribs Thoracic kyphosis Lumbar hyperlordosis Spinal canal stenosis Metaphyseal irregularity Spastic tetraparesis Accelerated skeletal maturation Thickened skin Decreased body weight Split hand Tetraparesis Decreased plasma carnitine Heat intolerance Abnormality of the immune system Diffuse telangiectasia Myopathy Dysphagia Frontal bossing Skeletal muscle atrophy Cognitive impairment Growth delay Recurrent cystitis Crusting erythematous dermatitis Hypogonadism Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Delayed skeletal maturation Photophobia Preeclampsia Hyponatremia Flushing Microscopic hematuria Exocrine pancreatic insufficiency Hypopigmentation of hair Male infertility Glycosuria Polyuria Oral-pharyngeal dysphagia Polydipsia Proteinuria Failure to thrive in infancy Hypohidrosis Pigmentary retinopathy Memory impairment Generalized muscle weakness Hypopigmentation of the skin Abnormality of skin pigmentation Confusion Ptosis Severe short stature Micrognathia Full cheeks Glucose intolerance Thoracic hypoplasia Visual field defect Nephronophthisis Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Sensorineural hearing impairment Short neck Pes cavus Wide nose Thick vermilion border Everted lower lip vermilion Syncope Short long bone Limitation of joint mobility Situs inversus totalis Spastic paraparesis Aortic regurgitation Cerebral palsy Stridor Rhinitis Spinal cord compression Mitral stenosis Broad face Spondylolisthesis Abnormality of peripheral nerve conduction Mucopolysacchariduria Abnormal nerve conduction velocity Cone-shaped epiphysis Oculomotor apraxia Tricuspid atresia Ventricular septal defect Failure to thrive Peripheral neuropathy Dental malocclusion Abnormality of epiphysis morphology Bone pain Nephrocalcinosis Hypokalemia Abnormality of dental morphology Osteomalacia Osteopetrosis Abnormality of the renal tubule Periodic paralysis Bicarbonate-wasting renal tubular acidosis Brachydactyly Ventriculomegaly Short ribs Respiratory insufficiency Visual loss Polydactyly Cleft lip Oral cleft Hepatic failure Postaxial polydactyly Retinal dystrophy Postaxial hand polydactyly Cerebellar vermis hypoplasia Cholestasis Short phalanx of finger Rhizomelia Hepatic fibrosis Urinary glycosaminoglycan excretion Seizures Hypertelorism Neutropenia Decreased beta-galactosidase activity Intimal thickening in the coronary arteries Feeding difficulties Depressivity Arrhythmia Upslanted palpebral fissure Dyspnea Arthralgia Jaundice Anxiety Pallor Malabsorption Paresthesia Cirrhosis Pulmonary arterial hypertension Thoracolumbar kyphosis Cholelithiasis Abnormality of the thorax Adrenal insufficiency Microcytic anemia Hypoparathyroidism Increased serum ferritin Abnormality of the skull Cardiorespiratory arrest Neoplasm of the liver Abnormality of the hypothalamus-pituitary axis Abnormal hemoglobin Hypersplenism Monochromacy Malar prominence Hip pain Abnormal vertebral morphology Hypertension Disproportionate tall stature Myopia Behavioral abnormality Pectus excavatum Retinal detachment Gastrointestinal hemorrhage Psychosis Sparse scalp hair Dental crowding Amblyopia Anorexia Urticaria Intracranial hemorrhage Ectopia lentis Hemiplegia/hemiparesis Pulmonary embolism Abnormality of the nervous system Arteriovenous malformation Esophageal varix Cerebral ischemia Arterial thrombosis Subcutaneous hemorrhage Abnormality of amino acid metabolism Ascites Beaking of vertebral bodies Multiple epiphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Atlantoaxial dislocation Chondroitin sulfate excretion in urine Large elbow Pain Anterior wedging of L2



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