Hepatomegaly, and Abnormality of the dentition

Diseases related with Hepatomegaly and Abnormality of the dentition

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


Top matches:

Low match PACHYONYCHIA CONGENITA

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET UMLS

More info about PACHYONYCHIA CONGENITA

Low match ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC

Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC Is also known as ichthyosis-sclerosing cholangitis syndrome, neonatal ichthyosis-sclerosing cholangitis syndrome, nisch syndrome;ihsc; ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; nisch syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice


SOURCES: MESH OMIM ORPHANET SCTID UMLS MONDO GARD

More info about ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC

Low match EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: SCTID OMIM UMLS MONDO ORPHANET MESH

More info about EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS

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Low match FRUCTOSE INTOLERANCE, HEREDITARY

Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance.

FRUCTOSE INTOLERANCE, HEREDITARY Is also known as fructosemia, fructose-1-phosphate aldolase deficiency, fructose-1,6-bisphosphate aldolase b deficiency, aldolase b deficiency, aldob deficiency;hereditary fructose-1-phosphate aldolase deficiency; hereditary fructosemia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Hepatomegaly


SOURCES: ICD10 ORPHANET OMIM GARD UMLS MONDO NCIT DOID SCTID

More info about FRUCTOSE INTOLERANCE, HEREDITARY

Low match RENAL TUBULAR ACIDOSIS III

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.

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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia


SOURCES: SCTID ORPHANET OMIM UMLS

More info about RENAL TUBULAR ACIDOSIS III

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22.1. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the gene encoding carbonic anhydrase II (OMIM ) on chromosome 8q22.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).Osteosclerosis also occurs in pycnodysostosis (OMIM ), in van Buchem disease (OMIM ), and in sclerosteosis (OMIM ).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as osteopetrosis, infantile malignant 1, marble bones, autosomal recessive, albers-schonberg disease, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: UMLS GARD MESH DOID OMIM MONDO

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Low match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET SCTID

More info about RETT SYNDROME

Low match HERMANSKY-PUDLAK SYNDROME 2; HPS2

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia (Jung et al., 2006).

HERMANSKY-PUDLAK SYNDROME 2; HPS2 Is also known as ;hps2; hermansky-pudlak syndrome type 2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: UMLS ORPHANET GARD MESH MONDO DOID OMIM NCIT

More info about HERMANSKY-PUDLAK SYNDROME 2; HPS2

Low match MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).

MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL Is also known as ;mdp syndrome; mandibular hypoplasia-hearing loss-progeroid syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Micrognathia


SOURCES: UMLS MONDO OMIM GARD ORPHANET

More info about MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL

Low match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Related symptoms:

  • Micrognathia
  • Myopathy
  • Hepatomegaly
  • Splenomegaly
  • Congestive heart failure


SOURCES: ORPHANET

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of the dentition

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Carious teeth Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Abnormality of the dentition. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Global developmental delay Hyperbilirubinemia Anemia Seizures Hearing impairment Hepatic steatosis Intellectual disability

Rare Symptoms - Less than 30% cases


Scaling skin Osteopetrosis Osteolytic defects of the phalanges of the hand Nystagmus Cataract Lipodystrophy Acanthosis nigricans Malnutrition Insulin resistance Optic atrophy Hypertriglyceridemia Visual impairment Diabetes mellitus Elevated hepatic transaminase Micrognathia Thrombocytopenia Hypokalemia Respiratory insufficiency Ichthyosis Alopecia Abnormality of the nail Microcephaly Scoliosis Ranula Depressivity Reduced visual acuity Decreased muscle mass Retrognathia Coarse facial features Posteriorly rotated ears Cerebral cortical atrophy Macrotia Autism Clinodactyly of the 5th finger Thin upper lip vermilion Photophobia Conductive hearing impairment Recurrent infections Respiratory tract infection Smooth philtrum Neutropenia Hip dysplasia Recurrent bacterial infections Albinism Pulmonary fibrosis Ocular albinism Fair hair Periodontitis Upslanted palpebral fissure Immunodeficiency Dysphasia Motor delay Self-injurious behavior Abnormality of the antihelix Abnormality of the skull Acrocyanosis Hemiplegia/hemiparesis Narrow foot Arnold-Chiari malformation Abnormality of the metacarpal bones Stereotypy Thin fingernail Pica Strabismus Apraxia Histiocytosis Recurrent respiratory infections Milia Low-set ears Epicanthus Wide nasal bridge Tetraplegia Intellectual disability, mild Abnormality of movement Arthrogryposis multiplex congenita Developmental regression Long philtrum Pneumonia Congenital onset Joint stiffness EEG abnormality Abnormal facial shape Abnormality of the skeletal system Acetabular dysplasia Decreased HDL cholesterol concentration Pancreatitis Atherosclerosis Polycystic ovaries Skeletal muscle hypertrophy Premature graying of hair Reduced subcutaneous adipose tissue Aplasia/Hypoplasia of the skin Coronary artery atherosclerosis Lipoatrophy Ventricular arrhythmia Secondary amenorrhea Progeroid facial appearance Xanthomatosis Precocious atherosclerosis Advanced eruption of teeth Thin skin Narrow nasal ridge Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Supraventricular arrhythmia Decreased serum leptin Accelerated atherosclerosis Increased intraabdominal fat Minimal subcutaneous fat Increased adipose tissue around the neck Abnormal atrioventricular conduction Increased facial adipose tissue Decreased adiponectin level Acroosteolysis of distal phalanges (feet) Muscle hypertrophy of the lower extremities Generalized hirsutism Round face Interstitial pneumonitis Proptosis Granulocytopenia Intermittent thrombocytopenia Cutaneous abscess Aberrant melanosome maturation Autosomal dominant inheritance Growth delay Sensorineural hearing impairment Cryptorchidism Flexion contracture Arrhythmia Kyphosis Osteoporosis Narrow mouth Hypogonadism Sparse hair Hypertrophic cardiomyopathy Convex nasal ridge Dental crowding Long eyelashes Telangiectasia Osteolysis Short metatarsal Dermal atrophy High pitched voice Short clavicles Scleroderma Lack of skin elasticity Myopathy Congestive heart failure Myalgia Behavioral abnormality Retinal atrophy Dystonia Steatorrhea Scarring alopecia of scalp Hypotrichosis of the scalp Sclerosing cholangitis Absent hair Acute hepatitis Infantile onset Fatigue Delayed skeletal maturation Osteopenia Skin rash Asthma Abnormality of the coagulation cascade Hyperostosis Exocrine pancreatic insufficiency Cholangitis Rhinitis Conjugated hyperbilirubinemia Anemia of inadequate production Allergic rhinitis Calvarial hyperostosis Erythroid hyperplasia Pain Coma Vomiting Acidosis Abdominal pain Hypoglycemia Lactic acidosis Lethargy Orthokeratosis Concave nail Metabolic acidosis Dry skin Hyperhidrosis Nail dystrophy Palmoplantar keratoderma Abnormal blistering of the skin Abnormality of the hair Abnormality of the fingernails Laryngomalacia Corneal dystrophy Anonychia Oral leukoplakia Thick nail Epidermoid cyst Skin plaque Abnormality of nail color Hypodontia Parakeratosis Scarring Epidermal acanthosis Hepatitis Hypotrichosis Hypoplasia of dental enamel Cholestasis Sparse and thin eyebrow Abnormality of dental enamel Sparse eyelashes Oligodontia Portal hypertension Erythroderma Abnormality of blood and blood-forming tissues Sparse body hair Cirrhosis Aciduria Intellectual disability, severe Aganglionic megacolon Rickets Osteomalacia Aseptic necrosis Abnormality of the renal tubule Periodic paralysis Bicarbonate-wasting renal tubular acidosis Macrocephaly Frontal bossing Hydrocephalus Blindness Heterogeneous Oxycephaly Facial palsy Pancytopenia Coxa vara Reduced bone mineral density Elevated alkaline phosphatase Cognitive impairment Ophthalmoparesis Osteomyelitis Flared metaphysis Pathologic fracture Tetany Facial paralysis Extramedullary hematopoiesis Sandwich appearance of vertebral bodies Short stature Ataxia Muscle weakness Spasticity Abnormality of dental morphology Nephrocalcinosis Nephropathy Proximal tubulopathy Gastrointestinal hemorrhage Meningitis Nausea Decreased liver function Hypophosphatemia Shock Glycosuria Hyperuricemia Intestinal bleeding Renal tubular acidosis Ketosis Neonatal hypoglycemia Recurrent hypoglycemia Hyperphosphaturia Hemophagocytosis Bone pain Disseminated intravascular coagulation Proximal renal tubular acidosis Hyperuricosuria Fructose intolerance Bicarbonaturia Transient aminoaciduria Peripheral neuropathy Mandibular prognathia Genu valgum Recurrent fractures Cerebral calcification Dental malocclusion Abnormality of epiphysis morphology Nephrolithiasis Proximal upper limb muscle hypertrophy



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