Muscular hypotonia, and Immunodeficiency

Diseases related with Muscular hypotonia and Immunodeficiency

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

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Other less relevant matches:

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Immunodeficiency

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Immunodeficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe Short stature Failure to thrive Recurrent infections Absent speech Pneumonia Motor delay Ataxia Anemia Thrombocytopenia

Rare Symptoms - Less than 30% cases

Hearing impairment Hypoplasia of the corpus callosum Recurrent bacterial infections Feeding difficulties Depressed nasal bridge Sensorineural hearing impairment Midface retrusion Lactic acidosis Lymphopenia Muscular hypotonia of the trunk Diarrhea Muscle weakness Cardiomyopathy Myopathy Decreased antibody level in blood Hepatosplenomegaly Eczema Microcephaly Ventriculomegaly Macrocephaly Frontal bossing Autism Dermal translucency Abnormal facial shape Abnormal bleeding Febrile seizures Hypohidrosis Proteinuria Abnormal granulocyte morphology Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Anemia of inadequate production Vomiting Microcytic anemia Abnormality of the nervous system Decreased platelet glycoprotein IIb-IIIa Irritability Respiratory tract infection Lethargy Neutropenia Brittle hair Aminoaciduria Severe periodontitis Rectal abscess Pancytopenia Gingivitis Otitis media Epistaxis Anhidrosis Recurrent skin infections Rheumatoid arthritis Leukocytosis Cellulitis Sideroblastic anemia Hypochromic microcytic anemia Periodontitis Peritonitis Juvenile rheumatoid arthritis Sarcoma Abnormal thrombocyte morphology Recurrent bacterial skin infections Abnormality of dental enamel Aciduria Leukopenia Nephrocalcinosis Hypoplasia of the iris Cerebral atrophy Recurrent pneumonia Congestive heart failure Intermittent diarrhea Recurrent lower respiratory tract infections Amelogenesis imperfecta Vitamin B12 deficiency Megaloblastic bone marrow Agranulocytosis Autoimmunity Lymphadenopathy Hemolytic anemia Asthma Nail dysplasia Nephrotic syndrome Bruising susceptibility Congenital neutropenia Hypoplasia of dental enamel Rod-cone dystrophy Macrocytic anemia IgA deficiency Autoimmune hemolytic anemia Abnormal cerebellum morphology Episodic fever IgG deficiency Neurodegeneration Abnormality of the mouth Granulocytopenia Agammaglobulinemia Megaloblastic anemia Methylmalonic aciduria Stomatitis IgM deficiency Abnormality of chromosome stability Reticulocytopenia Acute kidney injury Scoliosis Confusion Epileptic encephalopathy Cerebellar atrophy Behavioral abnormality Encephalopathy Hyporeflexia Hyperactivity Gait ataxia Polyneuropathy Progressive microcephaly Peripheral neuropathy Cortical gyral simplification Hypertelorism Abnormal lung morphology Wide anterior fontanel Failure to thrive in infancy Emphysema Chromosome breakage Mild global developmental delay Skeletal muscle atrophy Neoplasm Bronchiolitis Broad eyebrow Downslanted palpebral fissures Developmental regression Postnatal growth retardation Apraxia Pointed chin Speech apraxia Periorbital fullness Cryptorchidism Tall stature Delayed speech and language development Epicanthus Posteriorly rotated ears Proptosis Autistic behavior Microtia Abnormality of the foot Facial asymmetry Prominent superficial veins Abnormality of the thymus Arthritis Hypertonia Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Nystagmus Strabismus Spasticity Visual impairment Cerebral cortical atrophy Neurodevelopmental delay EEG abnormality Postnatal microcephaly Cerebral visual impairment Absence seizures CNS hypomyelination Limb hypertonia Congenital microcephaly Abnormal muscle tone Abnormality of lipid metabolism Hyperlipidemia Increased sensitivity to ionizing radiation Peripheral axonal neuropathy Bronchiolitis obliterans Hepatomegaly Intellectual disability, mild Elevated serum creatine phosphokinase Thin upper lip vermilion Hypoglycemia Deeply set eye Elevated hepatic transaminase Thin vermilion border Exercise intolerance Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Ventricular hypertrophy Hypertriglyceridemia Left ventricular hypertrophy Hepatic fibrosis Schistocytosis


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