Global developmental delay, and Pancytopenia

Diseases related with Global developmental delay and Pancytopenia

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

Top matches:

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Other less relevant matches:

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

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

High match REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

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

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Thrombocytopenia Generalized hypotonia Feeding difficulties Vomiting Methylmalonic aciduria Cerebellar hypoplasia Coma Aciduria Dehydration Acidosis Microcephaly Intellectual disability Lethargy Metabolic acidosis Methylmalonic acidemia Hyperglycinemia Oral leukoplakia Growth delay Intrauterine growth retardation Fever Nail dystrophy Hypertonia

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Jaundice Fine hair Sparse hair Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Neutropenia Midface retrusion Homocystinuria Ketonuria Hepatosplenomegaly Lymphadenopathy Ketosis Muscular hypotonia Hyperammonemia Respiratory distress Leukopenia Neoplasm Decreased antibody level in blood Pneumonia Nystagmus Short stature Aplastic anemia Edema Cerebral calcification Nail pits Megalocornea Purpura Hyperpigmentation of the skin Broad-based gait Progressive neurologic deterioration Abnormality of metabolism/homeostasis Retinopathy Leukocoria Absence seizures with eyelid myoclonia Eyelid myoclonus Megaloblastic anemia Central hypotonia Poor head control Absence seizures Postnatal microcephaly Cerebellar vermis hypoplasia Generalized-onset seizure Neuronal loss in central nervous system Delayed myelination Pallor Ridged fingernail Organic aciduria Reticulated skin pigmentation Hemiplegia Hypofibrinogenemia Increased total bilirubin Hemophagocytosis Prolonged prothrombin time Immune dysregulation Generalized edema Hypoproteinemia Papilledema Increased serum ferritin Increased CSF protein Abnormality of coagulation Hyponatremia Hypoalbuminemia Dilatation Encephalitis Increased intracranial pressure Meningitis Decreased liver function Diplopia Hypertriglyceridemia Tetraplegia Irritability Elevated hepatic transaminase Headache Splenomegaly Fine, reticulate skin pigmentation Exudative retinopathy Abnormality of the dentition Cerebral atrophy Long philtrum Combined immunodeficiency Lymphopenia Optic nerve compression Broad forehead Attention deficit hyperactivity disorder Autistic behavior Abnormal trabecular bone morphology Autism Obesity Recurrent infections Immunodeficiency Short nose Severe combined immunodeficiency Frontal bossing Macrocephaly Depressed nasal bridge Hypertelorism Stroke Cerebellar hemorrhage Episodic ketoacidosis Hyperglycinuria Abnormal myelination Ischemic stroke Cerebral edema Biparietal narrowing Increased head circumference Cerebellar atrophy Low-set ears Ventriculomegaly CNS hypomyelination Ketoacidosis Intellectual disability, profound Abnormality of skin pigmentation Carious teeth Carcinoma Alopecia Constipation Absent speech Nail dysplasia Scoliosis Postnatal macrocephaly Abnormality of the mitochondrion Abnormality of mitochondrial metabolism Encephalopathy Esophageal stricture Esophageal stenosis Progressive visual loss Increased bone mineral density Recurrent pneumonia Tremor Hypocalcemia Osteopetrosis CSF pleocytosis


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