Hepatomegaly, and Sparse hair

Diseases related with Hepatomegaly and Sparse hair

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

Top matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

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

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Medium match HAWKINSINURIA

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

HAWKINSINURIA Is also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-hppd deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAWKINSINURIA

Other less relevant matches:

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Medium match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Top 5 symptoms//phenotypes associated to Hepatomegaly and Sparse hair

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Elevated hepatic transaminase Anemia Acidosis Jaundice Dry skin Sparse eyelashes Leukopenia Muscular hypotonia Vomiting Hypertelorism Fine hair Global developmental delay Renal insufficiency Cognitive impairment Hernia Seizures Muscle weakness Osteoporosis Alopecia Intellectual disability Wide nasal bridge Depressed nasal bridge Cirrhosis

Rare Symptoms - Less than 30% cases

Frontal bossing Metabolic acidosis Malabsorption Recurrent fractures Abnormal bleeding Abnormality of the pinna Low-set ears Brittle hair Hypoalbuminemia Chronic diarrhea Stage 5 chronic kidney disease Wide nose Hepatitis Microcytic anemia Intrauterine growth retardation Thrombocytopenia Intractable diarrhea Small for gestational age Generalized hypotonia Abnormality of the liver Prominent forehead Immunodeficiency Cataract Anorexia Edema Aciduria Hepatic fibrosis Cholangitis Trichorrhexis nodosa Villous atrophy Hypertension Ichthyosis Abnormal facial shape High palate Cholestasis Pectus excavatum Sparse and thin eyebrow Hyperbilirubinemia Abnormal heart morphology Woolly hair Anteverted nares Erythroderma Sparse body hair Polyhydramnios Cutis laxa Plagiocephaly Metopic synostosis Widely spaced teeth Narrow palpebral fissure Short ribs Chronic kidney disease Horizontal ribs Cloverleaf skull Portal fibrosis Bile duct proliferation Patent foramen ovale Preaxial polydactyly Sparse eyebrow Polysplenia Mesomelia Broad philtrum Biliary cirrhosis Nephronophthisis High anterior hairline Cutaneous finger syndactyly Cystic hygroma Everted lower lip vermilion Hydrops fetalis Retrognathia Abnormality of the skeletal system Short neck Brachydactyly Epicanthus Abnormality of the dentition Syndactyly Midface retrusion Clinodactyly Patent ductus arteriosus Inguinal hernia Rod-cone dystrophy Upslanted palpebral fissure Polydactyly High forehead Proteinuria Rhizomelia Full cheeks Left ventricular hypertrophy Narrow forehead Postaxial hand polydactyly Limb undergrowth Microdontia Ectodermal dysplasia Renal cyst Telecanthus Smooth philtrum Narrow chest Dolichocephaly Blepharophimosis Fused teeth Joint laxity Craniosynostosis Iron deficiency anemia Downslanted palpebral fissures Dilated cardiomyopathy Postnatal microcephaly Thin skin Inflammatory abnormality of the skin Hypsarrhythmia Cyanosis Tetraplegia Neutropenia Apnea Aspiration Myalgia Hypoglycemia Hyperkeratosis Cerebral cortical atrophy Elevated serum creatine phosphokinase Arrhythmia Absent speech Dilatation Bradycardia Recurrent pneumonia Cardiomyopathy Myocarditis Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Epileptic spasms Severe muscular hypotonia Lipoatrophy Neurodevelopmental delay Abnormality of coagulation Bilateral talipes equinovarus Hyperglycemia Ventricular fibrillation Sacral dimple Ventricular tachycardia Congestive heart failure Strabismus Ventricular septal defect Hepatic failure Abnormality of the hair Depressed nasal ridge Pancytopenia Tetralogy of Fallot Premature birth Bifid uvula Sepsis Delayed puberty Recurrent upper respiratory tract infections Pulmonic stenosis Broad forehead Microtia Wide mouth Respiratory tract infection Proptosis Narrow mouth Long philtrum Aortic regurgitation Abnormality of the immune system Nystagmus Hypergalactosemia Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Secretory diarrhea Curly hair Intermittent diarrhea Increased mean platelet volume Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Large forehead Thrombocytosis Underdeveloped supraorbital ridges Cleft palate Nausea and vomiting Micrognathia Macrocephaly Paresthesia Nail dystrophy Autoimmunity Weight loss Abdominal pain Fatigue Pain Tapered finger Neoplasm 4-Hydroxyphenylacetic aciduria Abnormality of tyrosine metabolism 4-Hydroxyphenylpyruvic aciduria Fructose intolerance Chronic metabolic acidosis Abnormality of skin pigmentation Nail dysplasia Hypertyrosinemia Aplasia/Hypoplasia of the eyebrow Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Colon cancer Hypoplastic toenails Lymphedema Clubbing Hypokalemia Cachexia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Body odor Spherocytosis Dystrophic toenail Hypotrichosis Oligodontia Acanthosis nigricans Abnormality of dental enamel Hypoplasia of dental enamel Epidermal acanthosis Hypodontia Scarring Scaling skin Decreased serum iron Uncombable hair Pili canaliculi Chronic hepatitis Bloody diarrhea Hypochromic microcytic anemia Colitis Portal hypertension Abnormality of blood and blood-forming tissues Anisocytosis Acute hepatitis Severe failure to thrive Renal tubular acidosis Tachypnea Irritability Hypothyroidism Microcephaly Absent hair Parakeratosis Sclerosing cholangitis Scarring alopecia of scalp Hypotrichosis of the scalp Orthokeratosis Thick hair Concave nail Alopecia of scalp Hematochezia Clubbing of fingers Asterixis Nausea Pancreatitis Aminoaciduria Increased serum lactate Brain atrophy Postural instability Coma Osteopenia Hyperextensible skin Delayed skeletal maturation Intellectual disability, severe Respiratory insufficiency Skeletal muscle atrophy Feeding difficulties Abnormality of amino acid metabolism Subcutaneous hemorrhage Hyperammonemia Systemic lupus erythematosus Cerebral ischemia Psychotic episodes Argininuria Ornithinuria Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Hyperlysinuria Glomerulonephritis Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Malnutrition Abnormality of the coagulation cascade Arterial thrombosis Esophageal varix Furrowed tongue Gastrointestinal carcinoma Kyphosis Behavioral abnormality Optic atrophy Myopia Scoliosis Decreased taste sensation Glossitis Joint stiffness Patchy alopecia Peripheral edema Hamartomatous polyposis Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Glaucoma Pectus carinatum Arteriovenous malformation Venous thrombosis Pulmonary embolism Disproportionate tall stature Hemiplegia/hemiparesis Ectopia lentis Intracranial hemorrhage Urticaria Abnormality of retinal pigmentation Genu valgum Amblyopia Dental crowding Sparse scalp hair Psychosis Gastrointestinal hemorrhage Retinal detachment Arachnodactyly Aplasia of the fingers


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