Delayed speech and language development, and Neutropenia
Diseases related with Delayed speech and language development and Neutropenia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Neutropenia that can help you solving undiagnosed cases.
Top matches:
Medium 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
More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0
Medium match CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012).
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND Is also known as ;congenital cataract-deafness-severe developmental delay syndrome; lethal neurodegenerative disorder due to copper transport defect
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: UMLS MONDO OMIM ORPHANET
More info about CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLNDMedium 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 nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Generalized hypotonia
- Ataxia
- Failure to thrive
SOURCES: SCTID NCIT OMIM ORPHANET DOID MESH GARD UMLS MONDO ICD10
More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
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Other less relevant matches:
Medium match AGAMMAGLOBULINEMIA, X-LINKED; XLA
X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.
AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia
Related symptoms:
- Short stature
- Hearing impairment
- Ataxia
- Failure to thrive
- Sensorineural hearing impairment
More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA
Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 Is also known as ;mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Pica
SOURCES: UMLS OMIM GARD DOID ORPHANET MONDO
More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13Medium match ASPARTYLGLUCOSAMINURIA; AGU
Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycosylasparaginase deficiency, aspartylglucosaminidase deficiency, aga deficiency, glycoasparaginase, aspartylglycosaminuria
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
More info about ASPARTYLGLUCOSAMINURIA; AGU
Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
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 hplh4, hlh4
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Anemia
SOURCES: DOID UMLS MESH OMIM MONDO GARD
More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4Low match SPECIFIC GRANULE DEFICIENCY 2; SGD2
Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).
SPECIFIC GRANULE DEFICIENCY 2; SGD2 Is also known as ;neutrophil-specific granule deficiency
Related symptoms:
- Global developmental delay
- Anemia
- Abnormality of the skeletal system
- Diarrhea
- Thrombocytopenia
More info about SPECIFIC GRANULE DEFICIENCY 2; SGD2
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 kostmann disease, agranulocytosis, infantile
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
SOURCES: OMIM MONDO ICD10 GARD ORPHANET
More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3Low match METHYLMALONIC ACIDURIA, cblB TYPE
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 ).
METHYLMALONIC ACIDURIA, cblB TYPE Is also known as methylmalonic acidemia, cblb type, methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type;vitamin b12-responsive methylmalonic aciduria, type cblb
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscular hypotonia
SOURCES: DOID UMLS OMIM MONDO ORPHANET GARD NCIT
More info about METHYLMALONIC ACIDURIA, cblB TYPETop 5 symptoms//phenotypes associated to Delayed speech and language development and Neutropenia
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Autosomal recessive inheritance | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Thrombocytopenia | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Neutropenia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Anemia Motor delay Failure to thrive Ataxia Recurrent bacterial infections Intellectual disability Hepatomegaly Muscular hypotonia Splenomegaly Myopathy Cerebral atrophy Cerebellar atrophy Otitis media Cataract Diarrhea Hearing impairment Hepatosplenomegaly Pneumonia Encephalopathy Recurrent infections Hyperammonemia Chronic diarrhea Spasticity Sepsis
Rare Symptoms - Less than 30% cases
Myelodysplasia Immunodeficiency Sinusitis Recurrent urinary tract infections Lymphopenia Abnormal facial shape Lymph node hypoplasia Short stature Nevus Cardiomyopathy Ranula Abnormality of the pinna Meningitis Microcephaly Acidosis Fever Scoliosis Behavioral abnormality Coma Nystagmus Infantile onset Absent speech Congenital cataract Lethargy Respiratory distress Dystonia Growth delay Choreoathetosis Psychosis Global brain atrophy Developmental regression Platyspondyly Wide nose Gliosis Macroglossia Generalized myoclonic seizures Neuronal loss in central nervous system Thick lower lip vermilion Progressive neurologic deterioration Mental deterioration Mitral regurgitation Gingival overgrowth Overgrowth Intellectual disability, progressive Hoarse voice Aspiration Emotional lability Fibroma Acne Pathologic fracture Renal tubular acidosis Short neck Depressed nasal bridge Recurrent respiratory infections Anteverted nares Edema Intellectual disability, severe Abnormality of metabolism/homeostasis Persistent lactic acidosis Kyphosis Inguinal hernia Delayed skeletal maturation Mitochondrial respiratory chain defects Hernia Brachycephaly Renal insufficiency Erythema Gait ataxia Coarse facial features Hyperalaninemia Hyperactivity Gastrointestinal dysmotility Thickened calvaria Hydronephrosis Joint laxity Concave nasal ridge Wide mouth Beaking of vertebral bodies Macroorchidism Metabolic acidosis Increased antibody level in blood Thrombocytosis Acute lymphoblastic leukemia Granulocytopenia Congenital neutropenia Monocytosis Agranulocytosis Tonsillitis Vomiting Feeding difficulties in infancy Aciduria Clumsiness Pancytopenia Dehydration Abnormality of mitochondrial metabolism Ketonuria Ketosis Neonatal onset Methylmalonic aciduria Abnormality of the mitochondrion Hyperglycinemia Methylmalonic acidemia Decreased adenosylcobalamin Eosinophilia Leukemia Dysostosis multiplex Oligosacchariduria Leukodystrophy Broad face Spondylolisthesis Abnormality of the ovary Vacuolated lymphocytes Adenoma sebaceum Visceromegaly Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Spondylolysis Methemoglobinemia Peripheral neuropathy Angiokeratoma corporis diffusum Angiofibromas Aspartylglucosaminuria Optic atrophy Hypertriglyceridemia Increased serum ferritin Histiocytosis Hemophagocytosis Hypofibrinogenemia Abnormality of the skeletal system Nail dysplasia Plagiocephaly Increased serum lactate Truncal ataxia X-linked recessive inheritance Abnormality of B cell physiology Severe global developmental delay Sensorineural hearing impairment Neoplasm Progressive Tics Fatigue Renal tubular dysfunction Dilatation Depressivity Hemiplegia/hemiparesis Recurrent opportunistic infections Rod-cone dystrophy Alopecia Dementia Arthritis Weight loss Retinopathy Skin rash Autoimmunity Malabsorption Decreased antibody level in blood Recurrent pneumonia Cerebral vasculitis Brain abscess Skin ulcer CNS hypomyelination Tremor Milia Abnormal pyramidal sign Tetraplegia Lymphoma Spastic tetraplegia Decreased serum ceruloplasmin Tetraparesis Hypocupremia Rotary nystagmus Cerebellar vermis hypoplasia Pure red cell aplasia Spastic tetraparesis Recurrent upper respiratory tract infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Abnormal T cell morphology Autoimmune neutropenia Hepatitis Pancreatitis Narrow face Gastroesophageal reflux Epicanthus Downslanted palpebral fissures Skeletal muscle atrophy Ventriculomegaly Dysphagia Hypoplasia of the corpus callosum Arrhythmia Hypospadias Cerebellar hypoplasia Elevated hepatic transaminase Protruding ear Chorea Hypertrophic cardiomyopathy Small for gestational age Lactic acidosis Thick eyebrow Everted lower lip vermilion Short foot Delayed myelination Babinski sign Brain atrophy Spontaneous abortion Athetosis Nausea and vomiting Pica Abnormal lung morphology Glossoptosis Telangiectasia Conjunctivitis Hypocalcemia Hypopigmented skin patches Encephalitis Cellulitis Osteomyelitis Chronic otitis media Rheumatoid arthritis Myositis Agammaglobulinemia Enteroviral hepatitis Myelopathy Cor pulmonale Abnormality of the lymphatic system Thymoma Pyoderma Recurrent cutaneous abscess formation Septic arthritis Epididymitis Prostatitis Abnormality of the tonsils Enteroviral dermatomyositis syndrome Decreased methylmalonyl-CoA mutase activity
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