Generalized hypotonia, and Skin rash

Diseases related with Generalized hypotonia and Skin rash

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

Top matches:

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Other less relevant matches:

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

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

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Skin rash

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Muscular hypotonia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Irritability Tetraplegia Splenomegaly Spasticity Feeding difficulties Hepatomegaly Growth delay Feeding difficulties in infancy Encephalitis Abnormality of the cerebral white matter Psychosis Fever Developmental regression Brain atrophy Hepatosplenomegaly Anemia Low-set ears Dystonia Spastic tetraplegia Intrauterine growth retardation Encephalopathy Hypertonia Aciduria Hyperreflexia

Rare Symptoms - Less than 30% cases

Recurrent infections Systemic lupus erythematosus Short stature Acidosis Glossitis Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Pneumonia Cerebral atrophy Jaundice Peripheral demyelination Microcephaly Basal ganglia calcification Hypertelorism Elevated hepatic transaminase Episodic fever Abnormality of the nervous system Dilatation Diarrhea Severe global developmental delay Methylmalonic aciduria Pancytopenia Lymphadenopathy Wide nasal bridge Lethargy Chilblains Cirrhosis Increased antibody level in blood Prolonged neonatal jaundice Coma Confusion Inflammatory abnormality of the skin Depressed nasal bridge Hyperammonemia Progressive microcephaly CSF pleocytosis Progressive neurologic deterioration Intellectual disability, profound Respiratory distress Failure to thrive High palate Alopecia Epicanthus Thin upper lip vermilion Gait disturbance Tremor Dysarthria Cognitive impairment Ptosis Strabismus Nystagmus Increased CSF protein Pulmonary infiltrates Cellular immunodeficiency Increased serum ferritin Acute leukemia Hypoproteinemia Prolonged partial thromboplastin time Generalized edema Decreased HDL cholesterol concentration Prolonged prothrombin time Histiocytosis Hemophagocytosis Severe combined immunodeficiency Sepsis Combined immunodeficiency Gingivitis Glabellar reflex Hyperphenylalaninemia Neural tube defect Mood changes Abnormal urinary color Episodic ataxia Bruxism Delusions Neutral hyperaminoaciduria Irregular hyperpigmentation Insomnia Emotional lability Abnormality of vision Hypopigmented skin patches Aminoaciduria Hallucinations Diplopia Grasp reflex Neoplasm Abnormality of the coagulation cascade Hyperbilirubinemia Albinism Hyponatremia Hemiplegia Hypoalbuminemia Eosinophilia Increased intracranial pressure Leukopenia Purpura Meningitis Immunodeficiency Aspiration Hypertriglyceridemia Lymphoma Gliosis Hemolytic anemia Hepatic failure Leukemia Abnormality of the liver Increased LDL cholesterol concentration Abnormality of the skeletal system Partial albinism Sleep disturbance Clumsiness Intention tremor Mitral valve prolapse Oligohydramnios Neuronal loss in central nervous system Chorea Ascites Neurodegeneration Dysphonia Bruising susceptibility Retinal degeneration Abnormality of movement Ophthalmoplegia Generalized tonic-clonic seizures Neurological speech impairment Abnormal pyramidal sign Paralysis Schizophrenia Athetosis Neonatal hypotonia Vertical supranuclear gaze palsy Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Visceromegaly Neurofibrillary tangles Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Abnormal cholesterol homeostasis Supranuclear gaze palsy Head tremor Trismus Loss of speech Mental deterioration Myoclonus Increased total bilirubin Low cholesterol esterification rates Postnatal microcephaly Abnormality of extrapyramidal motor function Hepatitis Cerebral calcification Cerebral cortical atrophy Glaucoma Agenesis of corpus callosum Cutaneous photosensitivity Cerebellar atrophy Leukoencephalopathy Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Leukodystrophy Cerebral palsy Dementia Lymphocytosis Behavioral abnormality Dysphagia Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation Vegetative state Poor head control Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Progressive encephalopathy Atrophy/Degeneration affecting the brainstem Congenital glaucoma Petechiae Spastic diplegia Chronic diarrhea Broad-based gait Abnormal blistering of the skin Ventricular hypertrophy Cutis laxa Aortic regurgitation Hoarse voice Bronchiectasis Abnormality of the face Mitral regurgitation Coarctation of aorta Redundant skin Full cheeks Joint hyperflexibility Pulmonic stenosis Umbilical hernia Dyspnea Respiratory failure Inguinal hernia Venous thrombosis Aortic aneurysm Renal insufficiency Aortic dissection Bowel diverticulosis Uterine prolapse Subglottic stenosis Upper airway obstruction Premature skin wrinkling Right ventricular hypertrophy Raynaud phenomenon Heart block Stridor Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Abnormal heart valve morphology Infantile spasms Emphysema Heart murmur Hernia Fatigue Repeated pneumothoraces Tachypnea Perioral eczema Congenital lactic acidosis Desquamation of skin soon after birth Keratoconjunctivitis Organic aciduria Hyperventilation Anorexia Arthritis Eczema Metabolic acidosis Lactic acidosis Nausea and vomiting Hypotrichosis Weight loss Vomiting Abnormal heart morphology Microtia Cystathioninemia Homocystinuria Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Stomatitis Small for gestational age Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Incoordination Abnormality of the skin Neutropenia Aortic rupture Absent speech Migraine Triangular face Short chin Hemivertebrae Pointed chin Decreased body weight Narrow forehead Broad nasal tip Small hand Severe intrauterine growth retardation High, narrow palate Smooth philtrum Synophrys Abnormal cardiac septum morphology Abnormality of the pinna Postnatal growth retardation Telecanthus Sacral dimple Deep palmar crease Brachycephaly Photophobia Hepatic steatosis Vertigo Unsteady gait Malabsorption Abnormality of the eye Anxiety EEG abnormality Gastroesophageal reflux Macrodontia Gait ataxia Depressivity Headache Hydrocephalus Decreased head circumference Nevus flammeus of the forehead Malar rash Pes planus Posteriorly rotated ears Spastic paraplegia Pericardial effusion Respiratory insufficiency Anteverted nares Ventriculomegaly Flexion contracture Serositis Atopic dermatitis Progressive spastic paraplegia Toe walking Recurrent respiratory infections Spastic tetraparesis Vasculitis Lower limb spasticity Tetraparesis Nephrotic syndrome Paraplegia Abnormality of eye movement Short nose Apnea Clinodactyly Lower limb hyperreflexia Long philtrum Downslanted palpebral fissures Delayed speech and language development Abnormal facial shape Necrolytic migratory erythema Subependymal cysts Periventricular cysts CNS hypomyelination Camptodactyly Abnormal intestine morphology Elbow flexion contracture Bradycardia Thin vermilion border Micromelia Erythema Respiratory tract infection Fatal liver failure in infancy


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