Hepatomegaly, and Recurrent fractures

Diseases related with Hepatomegaly and Recurrent fractures

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

Top matches:

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Other less relevant matches:

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 MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

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

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Recurrent fractures

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Recurrent fractures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Generalized hypotonia Optic atrophy Bone pain Pain Osteopetrosis Muscular hypotonia Narrow chest Intellectual disability Thrombocytopenia Abnormality of epiphysis morphology Hepatosplenomegaly Constipation Seizures Scoliosis

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Apnea Abnormal blistering of the skin Hypophosphatemia Bone marrow hypocellularity Osteolysis Leukopenia Abnormality of the metaphysis Aminoaciduria Cirrhosis Urticaria Edema Abnormality of metabolism/homeostasis Diarrhea Hypertension Gastrointestinal hemorrhage Lymphadenopathy Nausea Craniosynostosis Increased bone mineral density Feeding difficulties Global developmental delay Visual impairment High palate Prominent occiput Hydrocephalus Nausea and vomiting Carious teeth Feeding difficulties in infancy Malabsorption Reduced bone mineral density Abnormality of dental morphology Genu valgum Macrocephaly Wormian bones Agenesis of permanent teeth Hepatic failure Blue sclerae Kyphosis Elevated hepatic transaminase Skeletal dysplasia Osteopenia Cognitive impairment Neoplasm Peripheral neuropathy Muscle weakness Postural instability Sensorineural hearing impairment Bruising susceptibility Esophageal varix Hemiplegia/hemiparesis Arteriovenous malformation Pulmonary embolism Hyperlysinuria Micronodular cirrhosis Disproportionate tall stature Cerebral ischemia Increased serum lactate Psychotic episodes Increased serum ferritin Ectopia lentis Intracranial hemorrhage Alveolar proteinosis Oroticaciduria Venous thrombosis Abnormality of retinal pigmentation Pulmonary hemorrhage Protein avoidance Anorexia Ornithinuria Argininuria Hemophagocytosis Truncal obesity Arterial thrombosis Hyperextensible skin Brain atrophy Abnormal bleeding Aciduria Asterixis Coma Metabolic acidosis Pancreatitis Stage 5 chronic kidney disease Sparse hair Cutis laxa Jaundice Hyperammonemia Systemic lupus erythematosus Glomerulopathy Glomerulonephritis Abnormality of the coagulation cascade Acidosis Delayed skeletal maturation Renal insufficiency Vomiting Intellectual disability, severe Respiratory insufficiency Skeletal muscle atrophy Malnutrition Abnormality of amino acid metabolism Subcutaneous hemorrhage Fine hair Hypodontia Micrognathia Abnormal pelvis bone ossification Facial palsy Respiratory failure Recurrent respiratory infections Tremor Nystagmus Growth delay Persistent open anterior fontanelle Abnormality of movement Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Pallor Sepsis Abnormal pattern of respiration Pulmonary artery stenosis Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Abnormality of hair texture Chronic rhinitis Premature loss of primary teeth Abnormality of visual evoked potentials Otitis media Reticulocytosis Cranial nerve paralysis Hypocalcemia Bowing of the long bones Pulmonary arterial hypertension Pancytopenia Abnormality of the ribs Persistence of primary teeth Low back pain Brachydactyly High forehead Growth hormone deficiency Prominent nose Hypoplasia of the maxilla Dental crowding Short distal phalanx of finger Hyperlordosis Proptosis Small nail Brachycephaly Prominent forehead Midface retrusion Malar flattening Abnormality of the dentition Abnormality of the skeletal system Frontal bossing Abnormality of the skin Abnormality of the face Small face Abnormality of the thorax Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Osteomyelitis Back pain Abnormal vertebral morphology Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Abnormality of the fingernails Narrow palate Abnormality of the nail Short toe Amblyopia Acute leukemia Sparse scalp hair Parathyroid adenoma Hypercalciuria Hypercalcemia Polydipsia Metaphyseal irregularity Polyuria Abnormality of the thyroid gland Hyperparathyroidism Thyroiditis Hashimoto thyroiditis Calcinosis Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Hyperphosphaturia Primary hyperparathyroidism Parathyroid hyperplasia Cyanosis Abnormality of calcium-phosphate metabolism Mandibular prognathia Dental malocclusion Cerebral calcification Nephrolithiasis Nephrocalcinosis Hypokalemia Rickets Osteomalacia Aseptic necrosis Abnormality of the renal tubule Periodic paralysis Bicarbonate-wasting renal tubular acidosis Abnormal facial shape Tachypnea Dyspnea Cerebral atrophy Recurrent corneal erosions Fever Intellectual disability, mild Areflexia Hyporeflexia Hyperhidrosis Urinary incontinence Hypohidrosis Abnormal autonomic nervous system physiology Anosmia Steppage gait Anhidrosis Bowel incontinence Decreased number of peripheral myelinated nerve fibers Hyposmia Pain insensitivity Beaded ribs Reduced number of teeth Fractures of the long bones Dentinogenesis imperfecta Vertebral compression fractures Soft skin Thin ribs Prolonged bleeding time Spontaneous abortion Acetabular dysplasia Joint hypermobility Micromelia Small for gestational age Conductive hearing impairment Congestive heart failure Painless fractures due to injury Hypoplasia of the corpus callosum Recurrent infections Psychosis Abnormality of the gastric mucosa Loss of consciousness Hypermelanotic macule Abnormality of blood and blood-forming tissues Flushing Allergy Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Mastocytosis Sarcoma Hernia Retinal detachment Arachnodactyly Pectus carinatum Joint stiffness Glaucoma Pectus excavatum Behavioral abnormality Dermatographic urticaria Myopia Cataract Telangiectasia macularis eruptiva perstans Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Portal hypertension Shock Alopecia Arrhythmia Retrognathia Blepharophimosis Wide nose Decreased antibody level in blood Short palpebral fissure Long eyelashes Thoracic scoliosis Hypoventilation Chronic constipation Overlapping fingers Generalized edema Hand clenching Fatigue Headache Abdominal pain Telangiectasia Pruritus Hypotension Asthma Sudden cardiac death Ascites Tachycardia Ichthyosis Papule Weight loss Leukemia Skin rash Erythema Myalgia Arthralgia Gastroesophageal reflux Opsoclonus


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