Immunodeficiency, and Intellectual disability, mild

Diseases related with Immunodeficiency and Intellectual disability, mild

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

Top matches:

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Other less relevant matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Seizures Pneumonia Hepatomegaly Recurrent bacterial infections Elevated hepatic transaminase Respiratory tract infection Cardiomyopathy Deeply set eye Elevated serum creatine phosphokinase Sensorineural hearing impairment Failure to thrive Abnormality of the skeletal system Thrombocytopenia Thin upper lip vermilion Generalized hypotonia Anemia Motor delay

Rare Symptoms - Less than 30% cases

Hypoglycemia Leukopenia Cardiomegaly Hepatosplenomegaly Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Arthritis Hyperlipidemia Ventricular hypertrophy Hypertriglyceridemia Hepatic fibrosis Recurrent sinusitis Decreased liver function Progressive muscle weakness Pancytopenia Dysphagia Skeletal dysplasia Kyphoscoliosis Small for gestational age Micromelia Metaphyseal sclerosis Autoimmunity Scoliosis Combined immunodeficiency Midface retrusion Myopathy Abnormality of the cerebral white matter Tetraplegia Recurrent respiratory infections Decreased antibody level in blood Carious teeth Peripheral neuropathy Pain Neutropenia Visual impairment Malar flattening Low-set ears Nystagmus Muscle weakness Muscular hypotonia Depressed nasal bridge Cerebral calcification Hemolytic anemia Splenomegaly Hepatitis Lymphadenopathy Spastic tetraplegia Purpura Lumbar hyperlordosis Recurrent otitis media Abnormal lung morphology Rhizomelia Encephalitis Wide nasal bridge Systemic lupus erythematosus Epicanthus Nephritis Rheumatoid arthritis Metaphyseal irregularity Spastic diplegia Abnormal facial shape Long philtrum Severe short stature Platyspondyly Granulocytopenia Ocular albinism Fair hair Periodontitis Pulmonary fibrosis Albinism Hip dysplasia Smooth philtrum Interstitial pneumonitis Conductive hearing impairment Photophobia Congenital neutropenia Hyperlordosis Coarse facial features Retrognathia Intermittent thrombocytopenia Reduced visual acuity Aberrant melanosome maturation Spasticity Diarrhea Hypothyroidism Upslanted palpebral fissure Arthralgia Posteriorly rotated ears Acetabular dysplasia Arthralgia/arthritis Restrictive ventilatory defect Exocrine pancreatic insufficiency Abnormality of the metaphysis Short ribs Bone marrow hypocellularity Type I diabetes mellitus Nephrocalcinosis Coxa vara Myelodysplasia Metaphyseal widening Neonatal respiratory distress Short thorax Steatorrhea Multiple lipomas Myeloid leukemia Acute myeloid leukemia Ovoid vertebral bodies Eczema Aplastic anemia Recurrent viral infections Acute monocytic leukemia Recurrent aphthous stomatitis Metaphyseal chondrodysplasia Anterior rib cupping Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Narrow sacroiliac notch Apraxia Microdontia Hypermelanotic macule Madelung deformity Scleroderma Basal ganglia calcification Autoimmune hemolytic anemia Autoimmune thrombocytopenia Vitiligo Irregular vertebral endplates Narrow nose Barrel-shaped chest Juvenile rheumatoid arthritis Immune dysregulation Spondylometaphyseal dysplasia Cellular immunodeficiency Tubulointerstitial fibrosis Decrease in T cell count Progressive spastic quadriplegia Specific learning disability Microcephaly Hypopigmented skin patches on arms Neoplasm Gait disturbance Respiratory distress Delayed skeletal maturation Osteopenia Pectus carinatum Leukemia Malabsorption Narrow chest Ichthyosis Generalized muscle weakness Sepsis Strabismus Ketotic hypoglycemia Spinal cord posterior columns myelin loss Cleft lip Exercise intolerance Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Hypertelorism Cleft palate Cataract Blindness Dystonia Kyphosis High forehead Mental deterioration Lactic acidosis Oral cleft Cleft upper lip Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Hypertension Fever Vomiting Left ventricular hypertrophy Peripheral axonal neuropathy Pallor Hypohidrosis Delayed speech and language development Tremor Atrial septal defect Abnormal heart morphology Hoarse voice Absence seizures Leukoencephalopathy Bicuspid aortic valve Recurrent skin infections IgA deficiency Abnormality of the dentition Hyperhidrosis Sensory neuropathy Keratitis Decreased number of small peripheral myelinated nerve fibers Anhidrosis Osteomyelitis Prematurely aged appearance Impaired pain sensation Episodic fever Premature loss of teeth Self-mutilation Poor wound healing Pain insensitivity Abnormality of the gingiva Impaired temperature sensation Painless fractures due to injury Acral ulceration Acidosis Retinopathy Parietal cortical atrophy Babinski sign Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ataxia Cognitive impairment Hyperreflexia Optic atrophy Respiratory insufficiency Absent speech Visual loss Areflexia Hyporeflexia Cerebral cortical atrophy Progressive hearing impairment Neonatal hypotonia Aggressive behavior Progressive visual loss Sensorimotor neuropathy Drooling Recurrent upper respiratory tract infections Decreased nerve conduction velocity Arnold-Chiari type I malformation Gout Low frustration tolerance Pancreatic fibrosis Muscle mounding Increased urinary hypoxanthine Ketosis Sinusitis Metabolic acidosis Decreased methylcobalamin Bilateral sensorineural hearing impairment Recurrent urinary tract infections Lymphopenia Macrocytic anemia Thrombocytosis Severe combined immunodeficiency Antinuclear antibody positivity Megaloblastic anemia Anisocytosis Hemolytic-uremic syndrome Folate deficiency Asthenia Septic arthritis Thiamine-responsive megaloblastic anemia Epistaxis Skeletal muscle atrophy Anteverted nares Congestive heart failure Obesity Proximal muscle weakness Myalgia Carcinoma Hypertrophic cardiomyopathy Abnormality of the liver Scarring Cirrhosis Hepatic failure Otitis media Irregular ossification at anterior rib ends


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