Delayed speech and language development, and Thrombocytopenia

Diseases related with Delayed speech and language development and Thrombocytopenia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Thrombocytopenia 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: UMLS ORPHANET

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS Is also known as ;microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO

More info about EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

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Other less relevant matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14

COXPD14 is a severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. Neuropathologic studies in 1 patient showed laminar cortical necrosis, characteristic of Alpers syndrome (OMIM ) (summary by Elo et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14 Is also known as ;coxpd14

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MONDO OMIM ORPHANET UMLS

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14

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 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

Low match AICARDI-GOUTIERES SYNDROME 7; AGS7

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J Is also known as cdg iij;cdgiij;cdg syndrome type iij; cdg-iij; cdg2j; carbohydrate deficient glycoprotein syndrome type iij; congenital disorder of glycosylation type 2j; congenital disorder of glycosylation type iij

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO GARD SCTID ORPHANET UMLS OMIM

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as dpd deficiency, dpyd deficiency, thymine-uraciluria, hereditary, pyrimidinemia, familial;familial pyrimidinemia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT ORPHANET MONDO MESH OMIM DOID GARD SCTID

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: MONDO OMIM UMLS DOID

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Low match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Thrombocytopenia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Thrombocytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cerebral atrophy Ataxia Hepatomegaly Hearing impairment Diffuse cerebral atrophy Spasticity Visual impairment Feeding difficulties Absent speech Hypertonia Spastic tetraplegia Failure to thrive Splenomegaly Tetraplegia Muscular hypotonia of the trunk Anemia Nystagmus Hypoplasia of the corpus callosum Encephalopathy Ventriculomegaly Hyperreflexia Muscular hypotonia Optic atrophy Alopecia Motor delay Dystonia Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Dry skin Acidosis Tremor Sinusitis Spastic tetraparesis Cerebellar atrophy Tetraparesis Lymphoma Lactic acidosis Pneumonia Milia Increased serum lactate Abnormal lung morphology Autosomal dominant inheritance Skin rash Babinski sign Irritability Mitochondrial encephalopathy Recurrent upper respiratory tract infections Abnormal facial shape Lethargy Fever Strabismus Leukopenia Sepsis Immunodeficiency EEG abnormality Cerebral cortical atrophy Coma Hepatosplenomegaly Diarrhea Recurrent respiratory infections Recurrent infections Limb hypertonia Pulmonary fibrosis Pancytopenia Hyperpigmentation of the skin Microphthalmia Bone marrow hypocellularity Phimosis Portal hypertension Abnormal intestine morphology Interstitial pulmonary abnormality Premature graying of hair Epiphora Hodgkin lymphoma Neoplasm Agenesis of corpus callosum Complex febrile seizures Abnormal protein N-linked glycosylation Intestinal bleeding Aseptic necrosis Abnormal protein O-linked glycosylation Gastrointestinal hemorrhage Acrania Hyperactivity Hypertension Breast carcinoma Aspiration pneumonia Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Aspiration Short stature Pica Cryptorchidism Cerebellar hypoplasia Nail dysplasia Osteoporosis Osteopenia Retinopathy Nail dystrophy Febrile seizures Iris coloboma Coloboma Weight loss Autism Cerebral calcification Hypoventilation Pruritus Aplastic anemia Abnormality of the immune system Asthma Abnormality of retinal pigmentation Lymphedema Skin ulcer Low anterior hairline Generalized hirsutism Bilateral single transverse palmar creases Inflammatory abnormality of the skin Abnormality of the fingernails Reduced bone mineral density Systemic lupus erythematosus Osteomyelitis Psoriasiform dermatitis Abnormality of the hip bone Thin skin Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Prolonged neonatal jaundice Petechiae Hypoplasia of the zygomatic bone Myelitis Chronic lung disease White forelock Abnormality of the middle ear Poliosis Facial hirsutism Diffuse telangiectasia Crusting erythematous dermatitis Hepatitis Cutaneous photosensitivity Oral leukoplakia Erythema Esophageal stricture Reticulated skin pigmentation Pulmonary hemorrhage Hypertelorism Micrognathia Ptosis Depressed nasal bridge Downslanted palpebral fissures Edema Short nose Intellectual disability, mild Abnormality of metabolism/homeostasis Obesity Prominent forehead Depressed nasal ridge Hyperkeratosis Proptosis Type II transferrin isoform profile Genu valgum Carious teeth Papule Arachnodactyly Palmoplantar keratoderma Hirsutism Eczema Convex nasal ridge Low posterior hairline Recurrent pneumonia Fatal liver failure in infancy Lower limb spasticity Neonatal sepsis Myoclonus Focal seizures Athetosis Exotropia Amblyopia Leukoencephalopathy Generalized amyotrophy Brisk reflexes Epileptic spasms Multifocal seizures Wide nasal bridge Arrhythmia Clonus Dysmetria Death in infancy Gliosis Aciduria Generalized myoclonic seizures Neuronal loss in central nervous system Hypsarrhythmia Epileptic encephalopathy Status epilepticus Aminoaciduria Atrophy/Degeneration affecting the brainstem Abnormality of the mitochondrion Delayed myelination Neurological speech impairment Type 2 muscle fiber atrophy Sensorineural hearing impairment Renal insufficiency Respiratory distress Nausea and vomiting Neutropenia Chorea Choreoathetosis Pancreatitis Hyperammonemia Hemiplegia/hemiparesis Renal tubular dysfunction Scoliosis Intellectual disability, severe Aggressive behavior Cortical visual impairment Postnatal microcephaly Absence seizures CNS hypomyelination Congenital microcephaly Muscle weakness Myopathy Skeletal muscle atrophy Cardiomyopathy Rod-cone dystrophy Rigidity Hypoglycemia Generalized aminoaciduria Epilepsia partialis continua Frontotemporal cerebral atrophy Respiratory tract infection Progressive microcephaly Vasculitis Toe walking Increased antibody level in blood Basal ganglia calcification Pericardial effusion Progressive spastic paraplegia Atopic dermatitis Serositis Chilblains Elevated hepatic transaminase Cirrhosis Brain atrophy Hepatic failure Sloping forehead Chronic diarrhea Hypercholesterolemia Elevated alkaline phosphatase Abnormality of the coagulation cascade Failure to thrive in infancy Shock Thick hair Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Progressive neurologic deterioration Paraplegia Behavioral abnormality Hypouricemia Abnormal pyramidal sign Otitis media Recurrent urinary tract infections Lymphopenia Recurrent bacterial infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Abnormal T cell morphology Abnormality of eye movement Autoimmune neutropenia Pure red cell aplasia Brain abscess Recurrent opportunistic infections Cerebral vasculitis Lymph node hypoplasia Abnormality of B cell physiology Developmental regression Nephrotic syndrome Spastic paraplegia Abnormality of the cerebral white matter Lymphadenopathy Recurrent cystitis



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