Motor delay, and Splenomegaly

Diseases related with Motor delay and Splenomegaly

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

Top matches:

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Other less relevant matches:

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

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Medium match FARBER DISEASE

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Top 5 symptoms//phenotypes associated to Motor delay and Splenomegaly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Muscle weakness Hearing impairment Failure to thrive Spasticity Short stature Abnormal pyramidal sign Nystagmus Tremor Jaundice Respiratory tract infection Ataxia Hyporeflexia Peripheral neuropathy Recurrent respiratory infections Growth delay

Rare Symptoms - Less than 30% cases

Reduced visual acuity Low-set ears Hepatic failure Distal sensory impairment Coarse facial features Intention tremor Intellectual disability, mild Wide nasal bridge Joint stiffness Pneumonia Behavioral abnormality Anemia Areflexia Recurrent infections Kyphosis Congestive heart failure Myopathy Respiratory distress Decreased nerve conduction velocity Immunodeficiency Ascites Spastic diplegia Recurrent upper respiratory tract infections Recurrent bacterial infections Tetraplegia Babinski sign Spastic tetraplegia Distal muscle weakness Hip dysplasia Hernia Delayed speech and language development Umbilical hernia Hypertension Portal hypertension Sensorineural hearing impairment Intellectual disability, severe Decreased liver function Skeletal muscle atrophy Hyperactivity Pulmonary fibrosis Hyperreflexia Fatigue Hepatic fibrosis Loss of speech Dysostosis multiplex Motor deterioration Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Cutis marmorata Ovoid thoracolumbar vertebrae Cellular metachromasia Dense calvaria Abnormality of the coagulation cascade Respiratory insufficiency Edema Osteoporosis Arthralgia Arthritis Patent foramen ovale Ischemic stroke Abnormality of the eye Hyperammonemia Irritability Small nail Ventricular hypertrophy Corneal opacity Restlessness Aplasia cutis congenita Coarse hair Depressed nasal bridge Cutis marmorata telangiectatica congenita Prominent scalp veins Chronic hepatic failure Portal vein thrombosis Hypersplenism Calcinosis cutis Cavernous hemangioma Right atrial enlargement Aplasia cutis congenita of scalp Right ventricular failure Hypertelorism Esophageal varix Prominent superficial veins Dysphagia Growth abnormality Diarrhea Rod-cone dystrophy Kyphoscoliosis Calcinosis Dolichocephaly Synophrys Hirsutism Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Everted lower lip vermilion Sleep disturbance Hypertrichosis Nephropathy Lipogranulomatosis Subcutaneous nodule Congenital nystagmus Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Premature graying of hair Ileus Intestinal obstruction CNS hypomyelination Anosmia Hypopigmented skin patches Torticollis Spastic paraparesis White forelock Intestinal pseudo-obstruction Leukodystrophy Hypoplasia of the cochlea Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Meconium ileus Alacrima Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Abnormal autonomic nervous system physiology Hypohidrosis Hydrops fetalis Joint swelling Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Juvenile rheumatoid arthritis Nonimmune hydrops fetalis Weak cry Cryptorchidism Decreased muscle mass Rheumatoid arthritis Laryngomalacia Abnormality of vision Spontaneous abortion Hoarse voice Periarticular subcutaneous nodules Myopia Aganglionic megacolon Prominent nasal bridge Peripheral demyelination Underdeveloped nasal alae Coma Hypopigmentation of the skin Distal amyotrophy Arthrogryposis multiplex congenita Telecanthus Arrhythmia Abnormality of the nervous system Neonatal hypotonia Abdominal pain Hypogonadism Myoclonus Pes cavus Constipation Pulmonary arterial hypertension Smooth philtrum Coarctation of aorta Tetraparesis Sensory impairment Frequent falls Sensorimotor neuropathy Foot dorsiflexor weakness Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Lymphoma Otitis media Recurrent urinary tract infections Paresthesia Sinusitis Lymphopenia Spastic tetraparesis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Progressive cerebellar ataxia Abnormality of the liver Lymph node hypoplasia Hypoglycemic seizures Acidosis Hypoglycemia Elevated hepatic transaminase Lactic acidosis Cirrhosis Abdominal distention Hypertriglyceridemia Hyperlipidemia Hypercholesterolemia Ketosis Recurrent hypoglycemia Fasting hypoglycemia Bile duct proliferation Portal fibrosis Cataract Gait ataxia Feeding difficulties Vomiting Weight loss Nausea and vomiting Aciduria Aminoaciduria Delayed gross motor development Hypergalactosemia Galactosuria Impairment of galactose metabolism Fever Optic atrophy Talipes equinovarus Cerebellar atrophy Brain abscess Abnormality of B cell physiology Pulmonic stenosis Granulocytopenia Posteriorly rotated ears Upslanted palpebral fissure Retrognathia Thin upper lip vermilion Photophobia Conductive hearing impairment Carious teeth Neutropenia Albinism Periodontitis Ocular albinism Fair hair Acetabular dysplasia Interstitial pneumonitis Congenital neutropenia Long philtrum Intermittent thrombocytopenia Aberrant melanosome maturation Brachydactyly Ventricular septal defect Syndactyly Encephalopathy Abnormal heart morphology Inguinal hernia Proximal muscle weakness Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Stroke Severe global developmental delay Abnormality of the cerebral white matter Thrombocytopenia Epicanthus Gait disturbance Progressive muscle weakness Cardiomyopathy Dystonia Cerebral atrophy Respiratory failure Hypertrophic cardiomyopathy Pallor Limb muscle weakness Unsteady gait Hemolytic anemia Dyskinesia Neuronal loss in central nervous system Optic disc pallor Oligohydramnios Involuntary movements Respiratory insufficiency due to muscle weakness Visual impairment Abnormal posturing Abnormal facial shape Strabismus Microcephaly Central nervous system degeneration Congenital hemolytic anemia Chronic hemolytic anemia Normochromic anemia Cholelithiasis Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Diaphragmatic paralysis Abnormality of immune system physiology Macrocytic anemia Spasmus nutans


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