Intellectual disability, severe, and Recurrent infections

Diseases related with Intellectual disability, severe and Recurrent infections

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Recurrent infections that can help you solving undiagnosed cases.

Top matches:

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Other less relevant matches:

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Low match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Recurrent infections

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Recurrent infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Ataxia Depressed nasal bridge Recurrent respiratory infections Respiratory tract infection Immunodeficiency Intellectual disability, progressive Broad-based gait Dysarthria Muscular hypotonia Failure to thrive Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Pneumonia Leukocytosis Strabismus High forehead Otitis media Abnormal bleeding Hyperactivity Periodontitis Spasticity Agenesis of corpus callosum Abnormality of the nervous system Hypermetropia Severe short stature Abnormality of the dentition Dysphagia Bulbous nose Feeding difficulties Aciduria Aggressive behavior Cerebral cortical atrophy Tremor Poor eye contact Cellulitis Bronchiolitis Widow's peak Neutrophilia Talipes equinovarus Echolalia Mild global developmental delay Attention deficit hyperactivity disorder Abnormality of the integument Reduction of neutrophil motility Scoliosis Micrognathia Recurrent otitis media Cataract Flexion contracture High palate Epicanthus Wide nasal bridge Anteverted nares Obsessive-compulsive behavior Brachydactyly Febrile seizures Stereotypy Poor speech Talipes Protruding ear Anal atresia Difficulty walking Inability to walk Generalized muscle weakness Esotropia Dandy-Walker malformation Hyporeflexia Progressive neurologic deterioration Hypertonia Limb ataxia Short foot Molar tooth sign on MRI Congenital cataract Poor coordination Impaired social interactions Happy demeanor Abnormal facial shape Coloboma Abnormality of metabolism/homeostasis Autism Coarse facial features Anxiety Severe global developmental delay Osteopenia Short nose Large fontanelles Absent eyelashes Type I diabetes mellitus Short chin Sparse eyelashes Dysphonia Prominent supraorbital ridges Brittle hair Absent eyebrow Anhidrosis Aplasia/Hypoplasia of the eyebrow Agenesis of permanent teeth Sparse body hair Hypoplastic nipples Rhinitis Soft skin Sparse and thin eyebrow Taurodontia Anodontia Heat intolerance Conical tooth Anterior hypopituitarism Concave nail Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hoarse voice Hypohidrosis Rhizomelia Hyperhidrosis Abnormality of pelvic girdle bone morphology Congenital contracture Short humerus Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Hypertension Fever Frontal bossing Respiratory distress Prominent forehead Sparse hair Thin skin Hypotrichosis Dry skin Short distal phalanx of finger Thick vermilion border Everted lower lip vermilion Delayed eruption of teeth Hypoplasia of the maxilla Hypodontia Ectodermal dysplasia Underdeveloped nasal alae Microdontia Eczema Sparse scalp hair Depressed nasal ridge Skeletal muscle atrophy Muscular hypotonia of the trunk Delayed speech and language development Proteinuria Recurrent bacterial skin infections Rectal abscess Decreased platelet glycoprotein IIb-IIIa Severe periodontitis Abnormal granulocyte morphology Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Muscle weakness Anemia Vomiting Diarrhea Thrombocytopenia Irritability Juvenile rheumatoid arthritis Lethargy Neutropenia Decreased antibody level in blood Pancytopenia Lymphopenia Leukopenia Macrocytic anemia IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia Abnormal thrombocyte morphology Peritonitis Methylmalonic aciduria Blue irides Hypsarrhythmia Tetraparesis Heterotopia Progressive microcephaly Infantile spasms Epileptic spasms Periventricular gray matter heterotopia Nystagmus Gait ataxia Truncal ataxia Encephalitis Hyperactive deep tendon reflexes Fair hair Gingivitis Action tremor Gaze-evoked horizontal nystagmus Mood changes Abnormality of histidine metabolism Urocanic aciduria Arthritis Confusion Bruising susceptibility Epistaxis Recurrent bacterial infections Recurrent skin infections Rheumatoid arthritis Megaloblastic anemia Stomatitis Elevated serum transaminases during infections Hepatic failure Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Edema Blindness Areflexia Hypoglycemia Dysmetria Intention tremor Abnormality of the periventricular white matter Cerebral visual impairment Abnormal intestine morphology Polycystic ovaries Partial agenesis of the corpus callosum Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced antithrombin III activity Reduced factor XI activity Enlarged cisterna magna Atonic seizures IgM deficiency Cerebral atrophy Abnormality of chromosome stability Reticulocytopenia Granulocytopenia Congenital neutropenia Megaloblastic bone marrow Vitamin B12 deficiency Agranulocytosis Ptosis Low-set ears Macrocephaly Downslanted palpebral fissures Behavioral abnormality Encephalopathy Relative macrocephaly Posteriorly rotated ears Myoclonus Gastroesophageal reflux EEG abnormality Mental deterioration Autistic behavior Generalized tonic-clonic seizures Falls Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Gingival overgrowth Tented upper lip vermilion Hypoplastic-absent sebaceous glands


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