Generalized hypotonia, and Sepsis

Diseases related with Generalized hypotonia and Sepsis

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

Top matches:

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Other less relevant matches:

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

High match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Sepsis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Sepsis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Recurrent infections Elevated hepatic transaminase Thrombocytopenia Hypoplasia of the corpus callosum Hepatomegaly Hepatic failure Muscular hypotonia Cerebral atrophy Wide nasal bridge Ataxia Growth delay Hypertonia Chronic diarrhea Pneumonia Immunodeficiency Fever Sloping forehead Hyperbilirubinemia Hyperreflexia Hypertelorism Irritability Muscular hypotonia of the trunk Focal-onset seizure

Rare Symptoms - Less than 30% cases

Splenomegaly Talipes equinovarus Encephalopathy Aspiration Leukopenia Eosinophilia Ventricular septal defect Low-set ears Blepharophimosis Posteriorly rotated ears Camptodactyly High palate Gliosis Pancytopenia Lymphadenopathy Recurrent respiratory infections Neutropenia Gastroesophageal reflux Encephalitis Episodic fever Motor delay Anemia Abnormality of the coagulation cascade Atrial septal defect Recurrent upper respiratory tract infections Respiratory tract infection Triangular face Peripheral demyelination Short stature Hepatosplenomegaly Wide anterior fontanel Intellectual disability Feeding difficulties Hypertriglyceridemia Myopathy Behavioral abnormality Strabismus Hypertrophic cardiomyopathy Feeding difficulties in infancy Abnormality of the liver Spasticity Coma Skeletal muscle atrophy Ventriculomegaly Focal impaired awareness seizure Cerebellar vermis hypoplasia Tetraplegia Bundle branch block Abnormality of the cerebral white matter Polymicrogyria Increased body weight Abnormal cerebellum morphology Anorexia Convex nasal ridge Pointed chin Narrow palpebral fissure Cutis laxa Mask-like facies Right bundle branch block Macrocytic anemia Bulbous nose Entropion Cavum septum pellucidum Recurrent urinary tract infections Wide nasal base Narrow naris Neoplasm Jaundice Abnormality of the nervous system Skin rash Leukemia Confusion Disproportionate tall stature Protruding ear Drowsiness Cerebellar hypoplasia Proximal amyotrophy Megaloblastic anemia Cheilitis Normocytic anemia Basal ganglia calcification Oral ulcer Folate deficiency Glossitis Folate-responsive megaloblastic anemia Cataract Cryptorchidism Flexion contracture Myoclonus Delayed speech and language development Downslanted palpebral fissures Abnormality of the immune system Cardiomyopathy Congestive heart failure Hernia Athetosis Inguinal hernia Micropenis Macrotia Retrognathia Loss of consciousness Purpura Hemolytic anemia Everted lower lip vermilion Lipogranulomatosis Abnormal natural killer cell physiology Visual impairment Depressed nasal bridge Anteverted nares Microphthalmia Prominent forehead Polyhydramnios Cleft lip Abnormality of the pinna Abnormal cardiac septum morphology Camptodactyly of finger High, narrow palate Brain atrophy Polyneuritis Dandy-Walker malformation Narrow forehead Interphalangeal joint contracture of finger Thick lower lip vermilion Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Prominent occiput Poor eye contact Hyperactive deep tendon reflexes Prominent metopic ridge Widow's peak Delayed CNS myelination Interrupted aortic arch Plasmacytosis CSF pleocytosis Lymphoma Acute leukemia Meningitis Decreased antibody level in blood Increased intracranial pressure Hypoalbuminemia Hemiplegia Hyponatremia Albinism Combined immunodeficiency Increased antibody level in blood Severe combined immunodeficiency Pulmonary infiltrates Increased CSF protein Increased serum ferritin Hypoproteinemia Hypofibrinogenemia Prolonged partial thromboplastin time Generalized edema Decreased HDL cholesterol concentration Prolonged prothrombin time Cellular immunodeficiency Histiocytosis Hemophagocytosis Increased LDL cholesterol concentration Partial albinism Increased total bilirubin Granulocytopenia T-cell lymphoma Increased VLDL cholesterol concentration Cerebral calcification Vomiting Dyskinesia Acidosis Trichorrhexis nodosa Intractable diarrhea Secretory diarrhea Vaginal fistula Muscle weakness Hepatic steatosis Lethargy Neurological speech impairment Pectus excavatum Difficulty walking Dry skin Hypoglycemia Ectodermal dysplasia Choanal stenosis Elevated serum creatine phosphokinase Hypocalcemia Respiratory insufficiency due to muscle weakness Arrhythmia Gowers sign Anhidrosis Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Villous atrophy Underdeveloped supraorbital ridges Epicanthus Hyperammonemia Elevated serum creatinine Conjugated hyperbilirubinemia Hypoketotic hypoglycemia Nonketotic hypoglycemia Prenatal maternal abnormality Hepatocellular necrosis Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Transient hyperlipidemia Hemiplegia/hemiparesis Reduced tendon reflexes Celiac disease Micrognathia Hyperlipidemia Midface retrusion Hyperactivity Arthritis Cardiomegaly Coloboma Small for gestational age Anal atresia Abdominal distention Sudden cardiac death Abnormal intestine morphology Long nose Protracted diarrhea Fatigue Abnormality of movement Frontotemporal cerebral atrophy Hypercholesterolemia Shock Postnatal microcephaly Elevated alkaline phosphatase Failure to thrive in infancy Heterotopia Limb hypertonia Diffuse cerebral atrophy Thick hair Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Neonatal sepsis Absence seizures Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Fatal liver failure in infancy Abnormal protein N-linked glycosylation Pachygyria Peripheral neuropathy Tremor Renal tubular acidosis Febrile seizures Pallor Nausea and vomiting Malabsorption Cirrhosis Spastic tetraparesis Hydrocephalus Renal tubular dysfunction Patent ductus arteriosus Neonatal hypotonia Type I lissencephaly Prominent nose Perivascular spaces Decreased fetal movement Decreased body weight Agyria Cholelithiasis Central hypotonia Scaphocephaly Double outlet right ventricle Abnormal cortical bone morphology Lissencephaly Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Mild global developmental delay Nystagmus Progressive spasticity Abnormality of neuronal migration Hypoplasia of the brainstem Absent speech Hand clenching


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