Hearing impairment, and Hepatic fibrosis

Diseases related with Hearing impairment and Hepatic fibrosis

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

Top matches:

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

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Other less relevant matches:

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

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

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

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

Top 5 symptoms//phenotypes associated to Hearing impairment and Hepatic fibrosis

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Generalized hypotonia Nystagmus Cirrhosis Hepatomegaly Cataract Obesity Abnormality of the liver Decreased liver function Renal cyst Peripheral neuropathy Cholestasis Muscle weakness Thin upper lip vermilion Hypertension Seizures Failure to thrive

Rare Symptoms - Less than 30% cases

Abnormality of the kidney Abnormality of the skeletal system Hypoglycemia Respiratory failure Myopathy Talipes equinovarus Low-set ears Retinal degeneration Diarrhea Retinopathy Hypothyroidism Scarring Strabismus Nephronophthisis Epicanthus Abnormal facial shape Renal insufficiency Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Hypoplasia of penis Congenital hepatic fibrosis Skeletal muscle atrophy Cryptorchidism Ventriculomegaly Depressed nasal bridge Steatorrhea Sepsis Midface retrusion Hepatic failure Malnutrition Intrahepatic cholestasis Ophthalmoplegia Splenomegaly Carcinoma Rod-cone dystrophy Congenital sensorineural hearing impairment Hypertriglyceridemia Progressive muscle weakness Ventricular hypertrophy Abnormality of retinal pigmentation Sinusitis Epistaxis Visual impairment Renal dysplasia Incoordination Chronic kidney disease Polydipsia Premature ovarian insufficiency Otitis media Nephritis Cone-shaped epiphysis Full cheeks Broad nasal tip Polyuria Diabetes insipidus Cardiomegaly Hyperlipidemia Involuntary movements Ketosis Ketotic hypoglycemia Fatigue Periportal fibrosis Congenital blindness Micronodular cirrhosis Skeletal myopathy Distal amyotrophy Recurrent corneal erosions Blindness Vomiting Recurrent sinusitis Progressive visual loss Visual loss Weight loss Photophobia Nyctalopia Hypermetropia Stage 5 chronic kidney disease Nausea Retinal dystrophy Progressive hearing impairment Anemia Nephropathy High hypermetropia Flexion contracture Severe sensorineural hearing impairment Wide anterior fontanel Hernia Pneumonia Diabetes mellitus Glaucoma Osteopenia Umbilical hernia Hyperlordosis Craniosynostosis Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Polycystic kidney dysplasia Long philtrum Portal hypertension Congenital glaucoma Congenital hypothyroidism Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Esophageal varix Buphthalmos Sagittal craniosynostosis Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Recurrent infections Atrial septal defect Peripheral visual field loss Hyporeflexia Tubulointerstitial nephritis Retinal dysplasia Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Exudative retinopathy Microcephaly Hypertelorism Delayed speech and language development Motor delay Cerebellar atrophy Distal muscle weakness Intrauterine growth retardation Hip dislocation Progressive cerebellar ataxia Decreased fetal movement Postnatal microcephaly Exotropia Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Shawl scrotum Exocrine pancreatic insufficiency Ankle contracture Pancreatic fibrosis Thin vermilion border Molar tooth sign on MRI Hypertrophic cardiomyopathy Hypokalemia Constipation Abdominal pain Abnormality of the cerebral white matter Malabsorption Unsteady gait Abdominal distention Generalized muscle weakness External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Cachexia Bilateral talipes equinovarus Intrahepatic cholestasis with episodic jaundice Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Sensory ataxic neuropathy Brachydactyly Abnormality of cardiovascular system morphology Iris coloboma Type II diabetes mellitus Encephalopathy Increased serum bile acid concentration Hand polydactyly Severe short stature Upslanted palpebral fissure Hyperkeratosis High forehead Erythema Ichthyosis Abnormal intestine morphology Erythroderma Hypocupremia Decreased serum ceruloplasmin Areflexia Pes cavus Jaundice Civatte bodies Hepatosplenomegaly Pruritus Neuronal loss in central nervous system Hyperbilirubinemia Pancreatitis Hepatocellular carcinoma Thrombocytosis Conjugated hyperbilirubinemia Fat malabsorption Intermittent jaundice Vitamin E deficiency Bilateral single transverse palmar creases Displacement of the external urethral meatus Myalgia Cerebellar malformation Tachypnea Hypoplasia of the brainstem Anophthalmia Occipital encephalocele Bell-shaped thorax Abnormal pattern of respiration Hydranencephaly Hyperechogenic kidneys Wide cranial sutures Posterior fossa cyst Elongated superior cerebellar peduncle Single naris Short ribs Pain Anteverted nares Cardiomyopathy Congestive heart failure Intellectual disability, mild Malar flattening Immunodeficiency Elevated serum creatine phosphokinase Deeply set eye Elevated hepatic transaminase Proximal muscle weakness Oculomotor apraxia Large fontanelles Abnormality of the antitragus Hypoplasia of the ovary Downslanted palpebral fissures Short neck Hypogonadism Prominent nasal bridge Neurological speech impairment Pigmentary retinopathy Postaxial hand polydactyly Nephrotic syndrome Generalized hirsutism Multicystic kidney dysplasia Abnormal electroretinogram Medial flaring of the eyebrow Heterotopia Ptosis Hypoplasia of the corpus callosum Cerebellar hypoplasia Polydactyly Dyspnea Apnea Polymicrogyria Pulmonary hypoplasia Dandy-Walker malformation Apraxia Cerebellar vermis hypoplasia Encephalocele Splenic cyst


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Optic disc pallor, related diseases and genetic alterations Rod-cone dystrophy and Cerebellar atrophy, related diseases and genetic alterations Congestive heart failure and Colon cancer, related diseases and genetic alterations Hydrocephalus and Autism, related diseases and genetic alterations Ptosis and Ambiguous genitalia, related diseases and genetic alterations