Spasticity, and Neutropenia

Diseases related with Spasticity and Neutropenia

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


Top matches:

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

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Other less relevant matches:

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


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

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match NEONATAL GLYCINE ENCEPHALOPATHY


Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Low match GRISCELLI SYNDROME TYPE 2


A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Top 5 symptoms//phenotypes associated to Spasticity and Neutropenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Sepsis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Immunodeficiency Generalized hypotonia Splenomegaly Aciduria Recurrent bacterial infections Choreoathetosis Recurrent infections Thrombocytopenia Encephalopathy Hepatomegaly Chorea Lymphadenopathy Motor delay Optic atrophy Progressive neurologic deterioration Lethargy Vomiting Fever Abnormality of movement Nausea and vomiting

Rare Symptoms - Less than 30% cases


Partial albinism Abnormal facial shape Failure to thrive Hemophagocytosis Acidosis Spastic tetraparesis Tetraparesis Iris hypopigmentation Hydrocephalus Hypertonia Tremor Delayed speech and language development Pulmonary infiltrates Coma Anemia Abnormal pyramidal sign Feeding difficulties Microcephaly Myoclonus Hyperactivity Neonatal hypotonia Attention deficit hyperactivity disorder Spastic diplegia Leukopenia Behavioral abnormality Petechiae Growth delay Progressive encephalopathy Jaundice Pancytopenia Hyperlipidemia Premature graying of hair Pneumonia Restlessness 3-Methylglutaconic aciduria Rigidity Abnormality of extrapyramidal motor function Hyperreflexia Cerebellar atrophy Hepatosplenomegaly Abnormality of the nervous system Leukemia Otitis media Dystonia Myelodysplasia Myeloid leukemia Acute myeloid leukemia Congenital neutropenia Short stature Nystagmus Bone marrow hypocellularity Cardiomyopathy Babinski sign Dysarthria Respiratory distress Poor suck Intellectual disability, profound Hypsarrhythmia Limb ataxia Upper motor neuron dysfunction Dyslexia Impulsivity White hair Infantile spasms Weak cry Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Severe global developmental delay Increased serum lactate Melanin pigment aggregation in hair shafts Reduced delayed hypersensitivity Silver-gray hair Cutaneous anergy Intellectual disability, mild Visual loss Hyporeflexia Agenesis of corpus callosum Abnormality of neutrophils Hypopigmentation of the skin Autism Generalized edema Aggressive behavior Intellectual disability, moderate Apnea Irritability Autistic behavior Edema Delirium Hyperglycinuria Cerebral atrophy Cranial nerve paralysis Encephalocele Decreased antibody level in blood Cataract Flexion contracture Dysphagia Respiratory failure Hypopigmented skin patches Hypothyroidism Hepatitis Peripheral demyelination Neuronal loss in central nervous system Developmental regression Gliosis Reduced tendon reflexes Pyloric stenosis Posterior fossa cyst Abnormal eyebrow morphology Brain atrophy Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Pill-rolling tremor Edema of the lower limbs Dysgraphia Albinism Ascites Abnormal eyelash morphology Opisthotonus Abnormality of lipid metabolism Abnormal cerebellum morphology Hypopigmentation of hair Intellectual disability, severe Heat intolerance Hypoplasia of the corpus callosum Falls Spastic paraplegia Paraplegia Horizontal nystagmus Paraparesis Spastic paraparesis Fatigue Nausea Hemolytic anemia Gait ataxia Metabolic acidosis Pigmentary retinopathy Intention tremor Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Reduced visual acuity Gait disturbance Increased level of L-pyroglutamic acid in urine Meningitis Renal insufficiency Pancreatitis Hyperammonemia Hemiplegia/hemiparesis Renal tubular dysfunction Hearing impairment Peripheral neuropathy Clumsiness Eosinophilia Visual impairment Increased antibody level in blood Thrombocytosis Acute lymphoblastic leukemia Granulocytopenia Monocytosis Tonsillitis Agranulocytosis Cognitive impairment Psychotic mentation Muscle weakness Hypertension Impaired T cell function Recurrent urinary tract infections Sinusitis Lymphopenia Recurrent upper respiratory tract infections Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Hypouricemia Lymphoma Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Spastic tetraplegia Tetraplegia Talipes equinovarus Respiratory insufficiency due to muscle weakness Myopathy Diarrhea Pectus excavatum Difficulty walking Dry skin Ectodermal dysplasia Chronic diarrhea Hypocalcemia Encephalitis Protracted diarrhea Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Accumulation of melanosomes in melanocytes



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