Hepatomegaly, and Nephrolithiasis

Diseases related with Hepatomegaly and Nephrolithiasis

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


Top matches:

Medium 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

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

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Other less relevant matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Medium match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Medium 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

Medium match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Nephrolithiasis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Mandibular prognathia Short stature Proteinuria Cognitive impairment Cardiomyopathy Umbilical hernia Osteoporosis Cirrhosis Accelerated skeletal maturation Hypertrophic cardiomyopathy Hepatosplenomegaly Nephropathy Tall stature Hypertrichosis Hypertriglyceridemia Delayed puberty Generalized hypotonia Hypercalciuria Hyperlipidemia Hepatocellular carcinoma Enlarged kidney Neoplasm Hepatic steatosis Muscular hypotonia Hernia Hypoglycemia Hirsutism Macrotia Pancreatitis Acidosis Failure to thrive Nephrocalcinosis Global developmental delay Peripheral neuropathy Anemia

Rare Symptoms - Less than 30% cases


Labial hypertrophy Coarse facial features Congenital generalized lipodystrophy Decreased serum leptin Hypothyroidism Congenital cataract Cerebral atrophy Polyhydramnios Vomiting Large fontanelles Prominent umbilicus Cystic angiomatosis of bone Wide mouth Dysphagia Confusion Insulin-resistant diabetes mellitus at puberty Diabetes mellitus Poor speech Dilatation Congestive heart failure Generalized muscular appearance from birth Retinopathy Jaundice Joint hypermobility Neoplasm of the liver Abnormal facial shape Cataract Oral-pharyngeal dysphagia Hearing impairment Spasticity Glycosuria Metaphyseal widening Generalized lipodystrophy Exocrine pancreatic insufficiency Hepatoblastoma High palate Sensorineural hearing impairment Wide nasal bridge Skeletal muscle atrophy Chronic kidney disease Hepatitis Macrocephaly Hepatic failure Arthritis Renal insufficiency Myopathy Progressive neurologic deterioration Midface retrusion Decreased fertility in females Reduced intrathoracic adipose tissue Acute pancreatitis Gout Lipemia retinalis Visual impairment Optic atrophy Decreased glomerular filtration rate Thrombocytopenia Xanthelasma Xanthomatosis Genu valgum Large for gestational age Protuberant abdomen Intellectual disability, mild Cerebral calcification Abnormality of epiphysis morphology Hyperuricemia Bone pain Rickets Focal segmental glomerulosclerosis Osteomalacia Abnormal bleeding Lactic acidosis Doll-like facies Recurrent infections Triangular face Polycystic ovaries High pitched voice Skeletal muscle hypertrophy Polyphagia Large hands Macroglossia Clitoral hypertrophy Hyperinsulinemia Lipodystrophy Lipoatrophy Acanthosis nigricans Insulin resistance Long foot Abnormality of the genital system Epidermal acanthosis Bone cyst Abnormality of the cerebral white matter Nausea and vomiting Peripheral axonal neuropathy Gonadoblastoma Hemihypertrophy Visceromegaly Infertility Ureteral duplication Diastasis recti Paresthesia Bruising susceptibility Nausea Multiple renal cysts Increased body weight Cholestasis Hemolytic anemia Nevus flammeus Polyneuropathy Coma Decreased liver function Ascites Rhabdomyosarcoma Involuntary movements Psychosis Clumsiness Osteoarthritis Neonatal hypoglycemia Arthralgia Otosclerosis Posterior helix pit Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Choroideremia Branchial cyst Subchorionic septal cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Spontaneous abortion Large intestinal polyposis Dysarthria Pruritus Rigidity Pseudohypoparathyroidism Abnormality of the liver Abnormality of earlobe Aggressive behavior Abnormality of the nervous system Asymmetric growth Anxiety Difficulty walking Tremor Anterior creases of earlobe Weight loss Dementia Depressivity Dystonia Edema Fatigue Muscle stiffness Patent ductus arteriosus Aminoaciduria Bilateral sensorineural hearing impairment Hemivertebrae Generalized hirsutism Gingival overgrowth Thickened skin Thick lower lip vermilion Small nail Intellectual disability, profound Overgrowth Spina bifida occulta Delayed eruption of teeth Thick vermilion border Short distal phalanx of finger Thick eyebrow Bulbous nose Synophrys Broad forehead Protruding ear Intellectual disability, progressive Hemangioma Polydactyly Gingival fibromatosis Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Long penis Growth abnormality Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Dyspnea Posteriorly rotated ears Leukopenia Arthropathy Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Joint swelling Abnormality of blood and blood-forming tissues Pathologic fracture Hyperphosphaturia Global brain atrophy Personality changes Abnormality of mitochondrial metabolism Back pain Abnormality of the hand Schizophrenia Drooling Leukoencephalopathy Esophageal varix Menstrual irregularities Polycythemia Kayser-Fleischer ring Intellectual disability, severe Abnormality of the skeletal system Downslanted palpebral fissures Myopia Brachydactyly Strabismus Scoliosis Atypical or prolonged hepatitis Mixed demyelinating and axonal polyneuropathy Proximal muscle weakness in lower limbs High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Prominent metopic ridge Generalized muscle weakness Neuroblastoma Microalbuminuria Hypocitraturia Hepatocellular adenoma Distal renal tubular acidosis Chronic pancreatitis Chronic hepatitis Intermittent diarrhea Hypoglycemic seizures Nystagmus Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Renal tubular acidosis Prolonged bleeding time Ataxia Low-set ears Portal hypertension Facial palsy Esotropia Renal cyst Ichthyosis Dolichocephaly Nyctalopia Respiratory tract infection Postnatal growth retardation Neonatal hypotonia Delayed speech and language development High forehead Rod-cone dystrophy Arrhythmia Absent speech Behavioral abnormality Anteverted nares Epicanthus Decreased muscle mass Glomerulosclerosis Abnormality of the face Abnormality of the renal tubule Oral ulcer Inflammation of the large intestine Recurrent bacterial infections Neutropenia Bicarbonate-wasting renal tubular acidosis Periodic paralysis Osteopetrosis Thick hair Aseptic necrosis Abnormality of dental morphology Hypokalemia Reduced bone mineral density Dental malocclusion Recurrent fractures Carious teeth Decreased fertility Hyperhidrosis Elevated alkaline phosphatase Osteopenia Venous thrombosis Atherosclerosis Epistaxis Full cheeks Metabolic acidosis Hematuria Carcinoma Recurrent respiratory infections Autoimmunity Diarrhea Glioma Abnormality of the ovary Angina pectoris Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Convex nasal ridge Rhizomelia Neurodevelopmental delay Oral motor hypotonia Inguinal hernia Obesity Abnormality of cardiovascular system morphology Cryptorchidism Cleft palate Elevated intracellular cystine Episodic metabolic acidosis Autism Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Hyperactivity Proptosis Decreased plasma carnitine Wide anterior fontanel Prominent occiput Melanocytic nevus Nephroblastoma Redundant skin Relative macrocephaly Arnold-Chiari malformation Sleep apnea Omphalocele Feeding difficulties in infancy Cardiomegaly Congenital diaphragmatic hernia Prominent nose Premature birth Vesicoureteral reflux Long face Neurological speech impairment Recurrent corneal erosions Male hypogonadism Progressive muscle weakness Hyperoxaluria Frontal bossing Fever Muscle weakness Elevated levels of phytanic acid Very long chain fatty acid accumulation Progressive spinal muscular atrophy Hypocholesterolemia Delayed skeletal maturation Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Leukodystrophy Hepatic fibrosis Blindness Hypogonadism Heat intolerance Polydipsia Preeclampsia Flushing Microscopic hematuria Hypopigmentation of hair Male infertility Polyuria Hyponatremia Failure to thrive in infancy Photophobia Hypohidrosis Pigmentary retinopathy Dehydration Memory impairment Hypopigmentation of the skin Abnormality of skin pigmentation Stage 5 chronic kidney disease Mesiodens



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Highly arched eyebrow, related diseases and genetic alterations Rod-cone dystrophy and Left ventricular hypertrophy, related diseases and genetic alterations

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