Pseudoxanthoma elasticum was also present, but whether it is a complication of beta-mannosidosis or not remains unknown. [ncbi.nlm.nih.gov]

Beta-mannosidosis is inherited in an autosomal recessive manner. [1] Affected individuals appear normal at birth, and can have a variable clinical presentation. [ipfs.io]

[…] deficiency Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal, Childhood, Adolescent, Adult ICD-10: E77.1 OMIM: 248510 UMLS: C0342849 C2931893 MeSH: D044905 GARD: 869 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Disability

  Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. [ipfs.io]

• Epilepsy

  […] recessive lysosomal storage disease (OMIM:248510) of glycoprotein catabolism characterised by a wide range of symptoms with neurologic involvement, including mental retardation of varying severity in most cases, hearing loss, speech impairment, hypotonia, epilepsy [medical-dictionary.thefreedictionary.com]

  Auralcephalosyndactyly Albinism, minimal pigment type Spastic paraplegia 15 Adenosine monophosphate deaminase 1 deficiency Ring chromosome 1 Lhermitte-Duclos disease Limb-girdle muscular dystrophy type 2F Flynn Aird syndrome Benign familial neonatal epilepsy [checkrare.com]

  The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. [genecards.org]

  E-2018 115 Viral Infections of the Nervous System E-2041 116 Fungal Rickettsial and Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy [books.google.ro]

  A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. Broomfield A, Gunny R, Ali I, Vellodi A, Prabhakar P. Broomfield A, et al. [pubmed.ncbi.nlm.nih.gov]

• Developmental Delay

  Homepage Rare diseases Search Search for a rare disease Beta-mannosidosis Disease definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a [orpha.net]

  Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.,MSH: An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation [linkedlifedata.com]

  The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease ({2:Bedilu et al., 2002}) The disorder was first described in goats [diseaseinfosearch.org]

  Patients with beta-mannosidosis typically have some degree of developmental delay or intellectual disability. Most of these patients have mild or no dysmorphic features. [ggc.org]

  Orpha Number: 118 Disease definition Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. [rarediseases.info.nih.gov]

• Weakness

  […] techniques for this condition can be done to offer a DDx, via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. [9] Treatment In terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness [enhancedwiki.territorioscuola.it]

  […] mannosidosis and beta-mannosidosis. [9] Treatment In terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness or seizures are treated based on the symptoms(since there's no cure) [4] See also Beta-mannosidase [popflock.com]

  […] condition can be done to offer a DDx, via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis.[9] Treatment[edit] In terms of beta-mannosidosis treatment there is none currently available, individuals that exhibit muscle weakness [en.wikipedia.org]

  Signs and symptoms of Alpha-Mannosidosis include: Intellectual disability Reduced bone density, muscular weakness Spine deformations Bowed legs Prominent forehead, low hairline Large ears, hearing loss Widely spaced teeth, large tongue Ataxia (difficulty [dovemed.com]

• Falling

  Data records in Research Data Australia fall into one of four access types: Open Data that is readily accessible and reusable. [researchdata.ands.org.au]

  Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

  […] short trunk and normal limbs Respiratory complications (sleep apnea, endurance limitations, snoring) Cardiac valve abnormalities Dental abnormalities Pectus carinatum, kyphosis, scoliosis, genu valgum, hypermobile joints Waddling gait with frequent falls [centogene.com]

  Die Handlungsempfehlungen sind in jedem Fall in Englischer Sprache veröffentlicht. In vielen Fällen finden Sie die Handlungsempfehlungen auch in weiteren Sprachen. [orphananesthesia.eu]

• Vomiting

  Patients with both forms of LAL deficiency may present with fever, abdominal distension, and vomiting. Hepatosplenomegaly is a frequent feature, accompanied by elevated transaminase levels. [emedicine.medscape.com]

• Hepatomegaly

  The cells that make up your liver just become engorged with sugar they cannot process and therefore become swollen with it, leading to hepatomegaly. [study.com]

  (alpha-Mannosidosis) Type 1: a severe form with hepatomegaly and early death. Type2: a mild form with hearing loss and mental retardation. (Fucosidosis) Type 1: a severe form. Type2: a mild form. [kegg.jp]

  Frequent clinical findings include recurrent bacterial infections, deafness, hepatomegaly, and lenticular or corneal opacities. [emedicine.medscape.com]

• Angiokeratoma

  We report here a 36-year-old Arab female with beta-mannosidosis who presented with mental retardation and multiple angiokeratomas. [ncbi.nlm.nih.gov]

  Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol. 2007 Sep;57(3):407-12. doi: 10.1016/j.jaad.2007.01.037. Epub 2007 Apr 8. [medlineplus.gov]

• Muscle Weakness

  weakness or seizures are treated based on the symptoms(since there's no cure) [4] See also Beta-mannosidase Alpha-mannosidosis References ^ a b "Mannosidosis, beta A, lysosomal | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" [enhancedwiki.territorioscuola.it]

  […] mannosidosis and beta-mannosidosis. [9] Treatment In terms of beta-mannosidosis treatment there is none currently, individuals that exhibit muscle weakness or seizures are treated based on the symptoms(since there's no cure) [4] See also Beta-mannosidase [popflock.com]

  weakness or seizures are treated based on the symptoms (since there's no cure)[4] See also[edit] Beta-mannosidase Alpha-mannosidosis References[edit] ^ a b "Mannosidosis, beta A, lysosomal | Genetic and Rare Diseases Information Center (GARD) – an NCATS [en.wikipedia.org]

  In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients. [emedicine.medscape.com]

• Hearing Impairment

  Methods Patients recruitment Altogether 250 hearing-impaired Roma patients with unknown cause of hearing loss (9 Czech (CZ) and 241 Slovak (SK) patients) were examined. [ojrd.biomedcentral.com]

  Further investigation of this gipsy family revealed β‐mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. β‐Mannosidase activity was completely [dx.doi.org]

  Showing of 17 | 80%-99% of people have these symptoms Abnormal facial shape Unusual facial appearance 0001999 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the abdominal wall musculature 0005247 Intellectual disability Mental [rarediseases.info.nih.gov]

  Clinical features and severity of symptoms are widely variable within alpha-mannosidosis but, in general, the disorder is characterized by skeletal abnormalities, immune deficiency, hearing impairment, and mental retardation. [mayomedicallaboratories.com]

• Psychiatric Manifestation

  "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631–641. doi : 10.1007/s10545-007-0661-4. PMID 17694356. [ipfs.io]

  "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631–641. doi : 10.1007/s10545-007-0661-4. PMID 17694356. subscription required ^ Reference, Genetics Home. [enhancedwiki.territorioscuola.it]

  "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631-641. doi : 10.1007/s10545-007-0661-4. PMID 17694356. subscription required ^ Reference, Genetics Home. [popflock.com]

  "Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults". Journal of Inherited Metabolic Disease. 30 (5): 631–641. doi:10.1007/s10545-007-0661-4. PMID 17694356. [en.wikipedia.org]

• Aggressive Behavior

  behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Angiokeratoma 0001014 Autosomal recessive inheritance 0000007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperactivity More active than typical [rarediseases.info.nih.gov]

• Abnormal Behavior

  In brief, these abnormal behaviors were suggestive of simple and complex motor and vocal tics associated with hyperactivity, obsessive-compulsive disorder, autoaggressiveness, and heteroaggressiveness. [jamanetwork.com]

• Seizure

  This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia [ncbi.nlm.nih.gov]

  Seizure 0001250 5%-29% of people have these symptoms Demyelinating peripheral neuropathy 0007108 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [rarediseases.info.nih.gov]

  Other clinical manifestations include increased risk of respiratory and ear infections, impaired speech, hearing loss, hypotonia, seizures, peripheral neuropathy, distinctive facial features, and angiokeratomas (benign growths of capillaries). [sema4.com]

• Behavior Problem

  In humans, mental retardation, hearing loss, frequent infections, and behavioral problems are relatively common. Dysmorphology and skeletal involvement such as those seen in ruminants are unusual. [ncbi.nlm.nih.gov]

  Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. [encyclopedia.pub]

  Affected individuals may be prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted. [medlineplus.gov]

  problems, including aggression. [3] A diagnosis of beta-mannosidosis is suspected based on the patients clinical presentation. [ipfs.io]

• Hyperactivity

  Behavioral concerns and problems include depression, extreme introversion, hyperactivity, and aggression. [sema4.com]

  Patient An 18-year-old man exhibited motor and vocal tics since childhood, attention-deficit/hyperactivity disorder, impulsivity, and aggressiveness compatible with Gilles de la Tourette syndrome. [jamanetwork.com]

  Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. [encyclopedia.pub]

  Affected individuals may be prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted. [medlineplus.gov]

• Paresis

  […] deficiency syndrome Ring chromosome 9 Aplasia cutis congenita intestinal lymphangiectasia Sitosterolemia Benallegue Lacete syndrome Cutis laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis [checkrare.com]

• Language Delays

  Clinical presentation CLN2, the only treatable form, most commonly presents with seizures and/or ataxia in the late-infantile period (around 2–4 years old), often in combination with language delay initially followed by global regression and including [emedicine.medscape.com]

An initial diagnostic workup may include a multi-enzyme screening assay for several oligosaccharidoses, including mannosidosis in leukocytes or fibroblasts (OLIGU / Oligosaccharide Screen, Urine; OLIWB / Oligosaccharidoses Screen, Leukocytes; or OLITC [mayomedicallaboratories.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

There is no treatment for this disease. Always speak to your doctor about the best personal plan of action. [diseaseinfosearch.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Studies of this possible chimera provided preliminary evidence for the efficacy of prenatal treatment of early-onset neurodegenerative disorders. [ncbi.nlm.nih.gov]

(Etiology) Alpha-Mannosidosis is an autosomal recessive genetic disorder caused by a mutation on the MAN2B1 gene Typically, this gene provides the coding for the production of the alpha-D-mannosidase enzyme; an enzyme, which has an important role to play [dovemed.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.ro]

The overall frequency of either p.R59H or 1622-1627insG was 57.7% of the disease-causing alleles, and this epidemiological study suggested a carrier frequency of 1:58 for this population 31. [centogene.com]

Benli IT et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506 PubMed Google Scholar 5. [link.springer.com]

Epidemiology In 2005, Marsden et al compiled a report of physician narratives from an epidemiologic study regarding infantile-onset Pompe disease. [emedicine.medscape.com]

Serial MRI showed generalized cortical and subcortical atrophy in the absence of white matter changes suggesting an additional axonal pathophysiological component. [ncbi.nlm.nih.gov]

Serial MRI showed generalized cortical and subcortical atrophy in the absence of white matter changes suggesting an additional axonal pathophysiological component. https://www.hal.inserm.fr/inserm-00408710 Contributeur : Marie Francoise Simon > Soumis [hal.inria.fr]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

Although treatment is mostly supportive and aimed at preventing complications, hematopoietic stem cell transplant has been reported to be a feasible therapeutic option. The incidence of alpha-mannosidosis is estimated at 1 in 500,000 live births. [mayomedicallaboratories.com]

CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence. [researchdata.ands.org.au]

Podocytes are special kidney cells with a crucial role in preventing escape of protein from blood to the urine. [rarediseasesnetwork.org]