Global developmental delay, and Autoimmunity

Diseases related with Global developmental delay and Autoimmunity

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

Top matches:

AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Other less relevant matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

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

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Autoimmune antibody positivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Diarrhea Motor delay Decreased antibody level in blood Immunodeficiency Splenomegaly Autoimmune thrombocytopenia Recurrent otitis media

Rare Symptoms - Less than 30% cases

Hyperglycemia Nail dystrophy Renal tubular dysfunction Alopecia Ketonuria Abnormality of the upper urinary tract Hypovolemia Recurrent infections Contractures of the joints of the lower limbs Chronic diarrhea Asthma Diabetes mellitus Hepatomegaly Abnormal facial shape Bronchiectasis Vitiligo Psoriasiform dermatitis Coma Neurodevelopmental delay Bilateral ptosis Apraxia Dehydration Generalized myoclonic seizures Glycosuria Downturned corners of mouth Alopecia totalis Arthrogryposis multiplex congenita Prominent metopic ridge Abnormal heart morphology Intrauterine growth retardation Muscular hypotonia Sepsis Generalized tonic-clonic seizures Growth hormone deficiency Systemic lupus erythematosus Inflammatory abnormality of the skin Fever Hepatitis Hemolytic anemia Thrombocytopenia Clinodactyly Proptosis Short stature Cholangitis Bifid uvula Brachydactyly Encephalitis IgA deficiency Hepatocellular carcinoma Edema IgG deficiency Recurrent lower respiratory tract infections Peripheral axonal neuropathy Pes planus Scarring Retinopathy Everted lower lip vermilion Intellectual disability, severe Gingivitis Agammaglobulinemia Stomatitis Decreased T cell activation IgM deficiency Chronic hepatitis Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Impaired Ig class switch recombination Ataxia Absence of lymph node germinal center Enlarged tonsils Moderate global developmental delay Opportunistic infection IgE deficiency Impaired memory B cell generation Agranulocytosis Goiter Autoimmune hemolytic anemia Decreased circulating ACTH level Hyperkalemia Recurrent sinusitis Thyroiditis Recurrent bronchitis Recurrent hypoglycemia Decreased circulating cortisol level Recurrent pharyngitis Hypoglycemic coma Recurrent upper respiratory tract infections Adrenocorticotropin deficient adrenal insufficiency Decreased serum insulin-like growth factor 1 Severe viral infections Abnormal lymphocyte morphology Decreased circulating androgen level Abnormal size of pituitary gland Severe B lymphocytopenia Hyponatremia Absence seizures Recurrent bacterial infections Reduced pancreatic beta cells Lymphopenia Hemiparesis Microalbuminuria Lymphadenopathy Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Stroke Insulin resistance Recurrent pneumonia Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Fatigue Hypotension Diplopia Leukoencephalopathy Clumsiness Involuntary movements Abnormal intestine morphology Camptodactyly Dolichocephaly Malabsorption Small for gestational age Abnormal lung morphology Type I diabetes mellitus Short chin Relative macrocephaly Respiratory failure Prominent occiput Chronic lung disease Interstitial pneumonitis Hyperactivity Microcephaly Cataract Depressed nasal bridge Short nose Hypothyroidism Tachycardia Ichthyosis Eyelid retraction Hyperthyroidism Hand tremor Tachypnea Graves disease Abnormal eye morphology Thyroid hyperplasia Thyrotoxicosis with diffuse goiter Activating thyroid-stimulating hormone receptor defect Posteriorly rotated ears Pretibial myxedema Generalized hypotonia Accelerated skeletal maturation Premature birth Low-set ears Sleep disturbance Macrocephaly Frontal bossing Hypogonadism Short distal phalanx of finger Agitation Cognitive impairment Combined immunodeficiency Chronic sinusitis Vasculitis Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Anemia Episodic fever Dysarthria Carcinoma Abnormality of the liver Neurodegeneration Neutropenia Subcutaneous nodule Otitis media Choreoathetosis Adrenal insufficiency Purpura Short phalanx of finger Dysphagia Anosmia Abnormality of the vertebral column Epiphyseal stippling Vitamin K deficiency Short nasal septum Maternal autoimmune disease Spasticity Gait disturbance Abnormality of metabolism/homeostasis Meningitis Delayed speech and language development Recurrent respiratory infections Hypoglycemia Lymphadenitis Periorbital edema Respiratory tract infection Recurrent viral infections Sinusitis Abnormality of the periungual region


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypertrichosis, related diseases and genetic alterations Dysarthria and Downturned corners of mouth, related diseases and genetic alterations Brachydactyly and Infertility, related diseases and genetic alterations Cardiomyopathy and Nausea and vomiting, related diseases and genetic alterations Abnormal facial shape and Attention deficit hyperactivity disorder, related diseases and genetic alterations Hearing impairment and Heterotopia, related diseases and genetic alterations