Global developmental delay, and Hepatosplenomegaly

Diseases related with Global developmental delay and Hepatosplenomegaly

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

Top matches:

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hepatosplenomegaly
  • Hemolytic anemia
  • Nonspherocytic hemolytic anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Other less relevant matches:

High match COG2-CDG

COG2-CDG Is also known as cdgiiq|cdg iiq|cog2-related congenital disorder of glycosylation

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypoplasia of the corpus callosum
  • Cerebral atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG2-CDG

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

High match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

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

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

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Hepatosplenomegaly

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hepatosplenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Rare Symptoms - Less than 30% cases

Hypercholesterolemia Decreased liver function Abnormal glycosylation Decreased serum ceruloplasmin Hearing impairment Macrocephaly Abnormality of the nervous system Ataxia Skeletal muscle atrophy Hepatic failure Anemia Cerebral atrophy Spasticity Motor delay Peripheral neuropathy Cerebellar atrophy Elevated hepatic transaminase Muscle weakness Hypertelorism Hypertriglyceridemia Neutropenia Hyporeflexia Lymphadenopathy Intellectual disability, mild Talipes equinovarus Tremor Granulocytopenia Optic atrophy Hyperreflexia Agranulocytosis Tonsillitis Gait ataxia Monocytosis Decreased antibody level in blood Congenital neutropenia Recurrent infections Acute lymphoblastic leukemia Reduced visual acuity Acute myeloid leukemia Pancytopenia Myeloid leukemia Increased antibody level in blood Myelodysplasia Eosinophilia Lymphopenia Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Increased head circumference Recurrent bacterial infections Thrombocytosis Abnormality of the liver Immunodeficiency Acute hepatic failure Long philtrum Short nose Frontal bossing Depressed nasal bridge Midface retrusion Obesity Neoplasm Stuttering Generalized limb muscle atrophy Pneumonia Dysmetric saccades Saccadic smooth pursuit Autism Distal lower limb muscle weakness Autistic behavior Broad forehead Attention deficit hyperactivity disorder Progressive gait ataxia Meningitis Cerebellar vermis atrophy Foot dorsiflexor weakness Sensorimotor neuropathy Hepatic fibrosis Frequent falls Intention tremor Sensory impairment Progressive cerebellar ataxia Distal sensory impairment Paresthesia Distal muscle weakness Bone marrow hypocellularity Prolonged neonatal jaundice Clumsiness Lymphedema Sensorineural hearing impairment Hypocupremia Small pituitary gland Generalized tonic seizures Diffuse cerebral atrophy Postnatal microcephaly Spastic tetraplegia Tetraplegia Hypoplasia of the corpus callosum Microcephaly Facial edema Protein-losing enteropathy Abnormal intestine morphology Flat face Feeding difficulties Synophrys Polyhydramnios Upslanted palpebral fissure Edema Abnormal facial shape Strabismus Hypofibrinogenemia Hemophagocytosis Increased serum ferritin Thrombocytopenia Congenital hemolytic anemia Chronic hemolytic anemia Nonspherocytic hemolytic anemia Hemolytic anemia Cataract Visual impairment Otitis media Eruptive xanthomas Sepsis Leukemia Copper accumulation in liver Elevated alkaline phosphatase of bone origin Increased LDL cholesterol concentration Cholestatic liver disease Long face Cirrhosis Jaundice Elevated serum creatine phosphokinase Downslanted palpebral fissures Ptosis Increased circulating chylomicron concentration Lipemia retinalis Epigastric pain Visual loss Chronic pancreatitis Hyperlipoproteinemia Episodic abdominal pain Pancreatitis Lethargy Abdominal pain Encephalopathy Pain Hearing abnormality Central hypotonia Inverted nipples Progressive muscle weakness Retinal dystrophy Respiratory tract infection Postnatal macrocephaly


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