Hearing impairment, and Cirrhosis

Diseases related with Hearing impairment and Cirrhosis

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

Top matches:

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Intrauterine growth retardation
  • Acidosis
  • Neonatal hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertension
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

Other less relevant matches:

Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Neoplasm
  • Failure to thrive
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Low match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Cirrhosis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Cholestasis Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Cirrhosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Hepatic fibrosis Jaundice Intrahepatic cholestasis Failure to thrive Short stature Hepatic failure Recurrent infections Global developmental delay Decreased liver function Pruritus Elevated hepatic transaminase Immunodeficiency

Rare Symptoms - Less than 30% cases

Micronodular cirrhosis Intellectual disability Depressed nasal bridge Conjugated hyperbilirubinemia Neoplasm Hypertension Intermittent jaundice Leukopenia Increased serum bile acid concentration Intrahepatic cholestasis with episodic jaundice Hepatic steatosis Generalized hypotonia Hepatosplenomegaly Diarrhea Hepatitis Pancreatitis Seizures Intrauterine growth retardation Carcinoma Respiratory failure Biliary cirrhosis Portal hypertension Thin upper lip vermilion Congenital sensorineural hearing impairment Sepsis Scarring Epicanthus Polycystic kidney dysplasia Cystic renal dysplasia Ketosis Congenital glaucoma Hiatus hernia Sagittal craniosynostosis Thoracolumbar scoliosis Buphthalmos Congenital hypothyroidism Enlarged kidney Esophageal varix Wide anterior fontanel Hernia Choanal atresia Ketotic hypoglycemia Long philtrum Atrial septal defect Abnormality of the skeletal system Low-set ears Pneumonia Diabetes mellitus Abnormal facial shape Glaucoma Hypothyroidism Pancreatic hypoplasia Bilateral sensorineural hearing impairment Periportal fibrosis Osteopenia Umbilical hernia Abnormality of the kidney Hyperlordosis Craniosynostosis Skeletal myopathy Recurrent corneal erosions Renal cyst Pancreatic cysts Pallor Splenic cyst Cellulitis Pancytopenia Lymphedema Bone marrow hypocellularity Intracranial hemorrhage Myelodysplasia Chronic otitis media Leukocytosis Prolonged bleeding time Myeloid leukemia Webbed neck Acute myeloid leukemia Acute leukemia Hypercoagulability Verrucae Abnormality of the optic nerve Myeloproliferative disorder Granulocytopenia Erysipelas Macronodular cirrhosis Hypotelorism Migraine Anemia Recurrent respiratory infections Fever Fatigue Respiratory insufficiency Edema Cerebellar atrophy Syndactyly Thrombocytopenia Visual loss Weight loss Tapered finger Progressive hearing impairment Leukemia Neurological speech impairment Nausea and vomiting Vertigo Lymphadenopathy Bruising susceptibility Hemolytic anemia Hematuria Recurrent sinusitis Malar flattening Hyperlipidemia Reduced bone mineral density Decreased antibody level in blood Recurrent bacterial infections Prolonged neonatal jaundice Cognitive impairment Delayed skeletal maturation Malabsorption Hypocalcemia Abnormality of coagulation Abnormality of the nervous system Abnormal thrombocyte morphology Cataract Peripheral neuropathy Upslanted palpebral fissure Hyperkeratosis High forehead Erythema Ichthyosis Hypermetropia Acholic stools Erythroderma Renal Fanconi syndrome Acidosis Neonatal hypotonia Lactic acidosis Aciduria Aminoaciduria Severe intrauterine growth retardation Increased serum ferritin Increased serum pyruvate Increased serum iron Sclerosing cholangitis Elevated hepatic iron concentration Chronic lactic acidosis Decreased transferrin saturation Stage 5 chronic kidney disease Vesicoureteral reflux Shock Cholangitis Ureteral duplication Abnormal intestine morphology Hypocupremia Sinusitis Thin vermilion border Midface retrusion Obesity Elevated serum creatine phosphokinase Hypoglycemia Deeply set eye Proximal muscle weakness Myalgia Hypertrophic cardiomyopathy Distal amyotrophy Congestive heart failure Broad nasal tip Full cheeks Otitis media Cardiomegaly Epistaxis Ventricular hypertrophy Hypertriglyceridemia Progressive muscle weakness Intellectual disability, mild Myopathy Decreased serum ceruloplasmin Steatorrhea Areflexia Pes cavus Severe short stature Rod-cone dystrophy Ophthalmoplegia Neuronal loss in central nervous system Hyperbilirubinemia Malnutrition Hepatocellular carcinoma Cardiomyopathy Thrombocytosis Fat malabsorption Vitamin E deficiency Civatte bodies Muscle weakness Pain Skeletal muscle atrophy Anteverted nares Abnormal neutrophil count


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