Autoimmunity, and Intellectual disability, moderate

Diseases related with Autoimmunity and Intellectual disability, moderate

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


Top matches:

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match PREMATURE OVARIAN FAILURE 1; POF1


Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

Low match FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


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

Low match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


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

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


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

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Low match PERMANENT NEONATAL DIABETES MELLITUS


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

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Top 5 symptoms//phenotypes associated to Autoimmunity and Intellectual disability, moderate

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Failure to thrive Short stature Diarrhea Intellectual disability, mild Motor delay High palate Decreased antibody level in blood Abnormality of metabolism/homeostasis Cafe-au-lait spot Weight loss Pneumonia Lymphopenia Microcephaly Ataxia Growth delay Neoplasm Premature ovarian insufficiency Micrognathia

Rare Symptoms - Less than 30% cases


Muscular hypotonia Hypertelorism Cataract Anal stenosis Scoliosis Anemia Generalized hypotonia Dehydration Coma Pollakisuria Abnormal facial shape Delayed speech and language development Hypothyroidism Brachydactyly Goiter Hypertension Scaphocephaly Hashimoto thyroiditis Fever Vomiting Thyroiditis Hyperthyroidism Retinopathy Autoimmune antibody positivity Short nose Myopia Short nasal septum Diabetes mellitus Polymicrogyria Joint hypermobility Abnormality of the kidney Autoimmune hemolytic anemia Dilatation Kyphosis Myopathy Atrial septal defect Abnormal heart morphology Anorectal anomaly Small for gestational age Growth hormone deficiency Hirsutism Hydronephrosis Leukemia Anal atresia Wide nose Hemolytic anemia Macrotia Lymphoma Prominent nose Otitis media Amenorrhea Hyperactivity Recurrent urinary tract infections Telangiectasia Chronic diarrhea Skeletal muscle atrophy Hypospadias Muscle weakness Cleft palate Combined immunodeficiency Depressed nasal bridge Intrauterine growth retardation Abnormal vertebral morphology Thyroid hyperplasia Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Tachypnea Long eyelashes Horseshoe kidney Congenital mitral stenosis Eversion of lateral third of lower eyelids Premature thelarche Hyperbilirubinemia Purpura Abnormal eye morphology Graves disease Accelerated skeletal maturation Hand tremor Premature birth Sleep disturbance Tachycardia Proptosis Increased body weight Hypergalactosemia Menstrual irregularities Agitation Increased circulating gonadotropin level Congenital hip dislocation Primary adrenal insufficiency Liver abscess Gonadal dysgenesis Fatigable weakness Sparse and thin eyebrow Secondary amenorrhea Webbed neck Sparse hair Prominent eyelashes Cerebellar vermis atrophy Abnormal dermatoglyphics Right bundle branch block Eyelid retraction Hydroureter Small face Bundle branch block Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Trichorrhexis nodosa Celiac disease Short columella Patellar dislocation Long palpebral fissure Vitiligo Overweight Autoimmune thrombocytopenia Severe hearing impairment Transposition of the great arteries IgA deficiency Broad philtrum Preauricular pit Sclerosing cholangitis Prominent fingertip pads Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Congenital hypothyroidism Epibulbar dermoid Abnormality of the urinary system Abnormality of the middle ear Recurrent aspiration pneumonia Biliary atresia Anterior plagiocephaly Bronchomalacia Poor suck Diaphragmatic eventration Ureteropelvic junction obstruction Failure to thrive in infancy Recurrent ear infections Brittle hair Precocious puberty Cupped ear Bilateral cryptorchidism Thyrotoxicosis with diffuse goiter Systemic lupus erythematosus Activating thyroid-stimulating hormone receptor defect Hyperglycemia Pancreatic hypoplasia Hypovolemia Microalbuminuria Abnormality of the upper urinary tract Ketonuria Renal tubular dysfunction Prominent metopic ridge Glycosuria Neurodevelopmental delay Bilateral ptosis Contractures of the joints of the lower limbs Apraxia Generalized myoclonic seizures Downturned corners of mouth Peripheral axonal neuropathy Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Intellectual disability, severe Loss of subcutaneous adipose tissue from upper limbs Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Membranoproliferative glomerulonephritis Hypotension Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Central diabetes insipidus Histiocytosis Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Syncope Fatigue Gliosis Vertigo Confusion Dry skin Lethargy Irritability Osteopenia Osteoporosis Constipation Long philtrum Decreased serum complement C3 Lymphocytosis Pretibial myxedema Antinuclear antibody positivity Ichthyosis Hypogonadism Thiamine-responsive megaloblastic anemia Decreased methylcobalamin Septic arthritis Asthenia Folate deficiency Hemolytic-uremic syndrome Anisocytosis Megaloblastic anemia Severe combined immunodeficiency Short phalanx of finger Thrombocytosis Macrocytic anemia Leukopenia Pancytopenia Bilateral sensorineural hearing impairment Metabolic acidosis Pallor Arthritis Acidosis Sensorineural hearing impairment Short distal phalanx of finger Anosmia Progeroid facial appearance Hypertriglyceridemia Microscopic hematuria Abnormality of lipid metabolism Glomerulopathy Lipoatrophy Glomerulonephritis Lipodystrophy Polycystic ovaries Generalized hirsutism Insulin resistance Hypertrichosis Nephrotic syndrome Heterotopia Nephropathy Hematuria Hepatic steatosis Proteinuria Arthralgia Alopecia Maternal autoimmune disease Vitamin K deficiency Epiphyseal stippling Abnormality of the vertebral column Renal dysplasia Depressivity Recurrent otitis media Pectus excavatum Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Nausea and vomiting Papule Carcinoma Proximal muscle weakness Narrow mouth Autism Headache Overgrowth Hydrocephalus Frontal bossing Tremor Downslanted palpebral fissures Macrocephaly Cognitive impairment Low-set ears Pain Progressive vitiligo Mastoiditis Macroglossia Intention tremor Dysgammaglobulinemia Palmoplantar hyperkeratosis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Breast carcinoma Broad thumb Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Exotropia Subcutaneous nodule Malar prominence Penoscrotal hypospadias Multiple cafe-au-lait spots Cleft upper lip Sinusitis Bronchiectasis Abnormality of the face Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Convex nasal ridge Neurodegeneration Prominent nasal bridge Low anterior hairline Attention deficit hyperactivity disorder Mental deterioration Abnormality of the nervous system Retrognathia Respiratory failure Upslanted palpebral fissure Recurrent respiratory infections Thrombocytopenia Respiratory insufficiency Short neck Abnormality of the hair Recurrent pneumonia Recurrent infection of the gastrointestinal tract Recurrent bronchitis T-cell lymphoma B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Abnormal eyelid morphology Cachexia Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Neuroblastoma Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Deep philtrum Cellulitis Acute myeloid leukemia Small nail Abnormality of the skeletal system Severe short stature Visual loss Patent ductus arteriosus Clinodactyly Obesity Hernia Renal insufficiency Abnormality of the dentition Ventricular septal defect Wide nasal bridge Micropenis Epicanthus Feeding difficulties Ptosis Cryptorchidism Strabismus Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Posteriorly rotated ears Pes planus Trichilemmoma Malabsorption Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Microdontia Dental malocclusion Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Astigmatism Abnormal cardiac septum morphology Jaundice Coloboma Paralysis Protruding ear Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Joint laxity Anxiety Hypoglycemia Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Hamartoma Arteriovenous malformation Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Papilloma Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Enlarged polycystic ovaries Hamartomatous polyposis Cutis marmorata telangiectatica congenita Varicocele Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Thyroid adenoma Fibroma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Germinoma



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