Intellectual disability, and Carcinoma

Diseases related with Intellectual disability and Carcinoma

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

Top matches:

Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

THYROID DYSHORMONOGENESIS 3; TDH3 Is also known as thyroid hormonogenesis, genetic defect in, 3|hypothyroidism, congenital, due to dyshormonogenesis, 3

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Pain
  • Hypothyroidism
  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID DYSHORMONOGENESIS 3; TDH3

High match PENDRED SYNDROME

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Other less relevant matches:

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Top 5 symptoms//phenotypes associated to Intellectual disability and Carcinoma

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Goiter Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Carcinoma. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Papule Cryptorchidism Recurrent respiratory infections Hyperkeratosis Coarse facial features Hydrocephalus Cerebral calcification Agenesis of corpus callosum Generalized hypotonia Strabismus Pustule Hoarse cry Intellectual disability, mild Global developmental delay Hearing impairment Abnormality of the thyroid gland Compensated hypothyroidism Dilatation Abnormality of metabolism/homeostasis Nail dystrophy Thyroid carcinoma Alopecia Carious teeth Small nail Thick lower lip vermilion Subcutaneous nodule Sparse scalp hair Thickened skin Abnormal oral mucosa morphology Nasal polyposis Hallucinations Hoarse voice Alopecia of scalp Verrucae Oligodontia Oral-pharyngeal dysphagia Abnormal blistering of the skin Microglossia Fragile skin Delusions Acne Bone marrow hypocellularity Memory impairment Pterygium of nails Pterygium Epiphora Pulmonary fibrosis Oral leukoplakia Hepatic fibrosis Aplastic anemia Poikiloderma Nasolacrimal duct obstruction Esophageal stricture Decreased mean platelet volume High palate Sparse eyelashes Dysphagia Respiratory distress Patchy alopecia Dystonia Absent speech Hyperpigmentation of the skin Abnormality of the nervous system Aggressive behavior Respiratory tract infection Scarring Telangiectasia Paranoia Palmoplantar keratoderma Abnormality of the gingiva Neurofibromas Severe periodontitis Chronic furunculosis Halitosis Atrophy of alveolar ridges Scoliosis Abnormality of cardiovascular system morphology Hernia Inguinal hernia Facial asymmetry Overgrowth Bicuspid aortic valve Nephroblastoma Skeletal muscle hypertrophy Multiple lipomas Recurrent cutaneous abscess formation Impaired pain sensation Increased circulating cortisol level Myelomeningocele Communicating hydrocephalus Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetric growth Asymmetry of the thorax Hepatoblastoma Embryonal neoplasm Leiomyosarcoma Hemifacial hypertrophy Choroid plexus calcification Cigarette-paper scars Tongue nodules Melanoma Bilateral intracranial calcifications Hyperhidrosis Erythema Hypotrichosis Arachnodactyly Microdontia Hypertrichosis Abnormality of the nail Generalized hirsutism Abnormality of the fingernails Osteolysis Neoplasm of the skin Hypopigmented skin patches Recurrent skin infections Liver abscess Palmoplantar hyperkeratosis Reduced number of teeth Scaling skin Keratitis Squamous cell carcinoma Sparse body hair Premature loss of teeth Gingivitis Periodontitis Fragile nails Stomatitis Premature loss of primary teeth Plantar hyperkeratosis Pancytopenia Heterotopia Nail dysplasia Prominent nose Depressed nasal bridge Wide nasal bridge Long philtrum Clinodactyly Narrow mouth Blepharophimosis Smooth philtrum Joint hypermobility Thin vermilion border Bulbous nose Triangular face Decreased body weight Ptosis Cafe-au-lait spot Scrotal hypoplasia Short stature Growth delay Muscular hypotonia Delayed skeletal maturation Constipation Umbilical hernia Feeding difficulties in infancy Lethargy Dry skin Abdominal distention Feeding difficulties Micrognathia Growth hormone deficiency Bilateral sensorineural hearing impairment Pain Aspiration Follicular thyroid carcinoma Congenital goiter Increased T3/T4 ratio Ataxia Sensorineural hearing impairment Respiratory insufficiency Neurological speech impairment Vertigo Nephropathy Progressive hearing impairment Thyroid nodule Congenital sensorineural hearing impairment Vestibular dysfunction Hyperparathyroidism Tracheal stenosis Alkalosis Metabolic alkalosis Abnormality of the inner ear Cochlear malformation Hypoplasia of the cochlea Unilateral deafness Euthyroid goiter Enlarged vestibular aqueduct Macroglossia Abnormal vertebral morphology Cirrhosis Tremor Hemiplegia/hemiparesis Absent septum pellucidum Renal cell carcinoma Aqueductal stenosis Clear cell renal cell carcinoma Flexion contracture of thumb Corticospinal tract hypoplasia Noncommunicating hydrocephalus Hypertelorism Low-set ears Hyperreflexia Talipes equinovarus Increased intracranial pressure Behavioral abnormality Acidosis Intellectual disability, moderate Bruising susceptibility Asthma Aciduria Hepatocellular carcinoma Poor coordination Microcephaly Thrombocytopenia Osteoporosis Abnormality of skin pigmentation Adducted thumb Holoprosencephaly Bradycardia Thyroid dysgenesis Hyperbilirubinemia Stridor Myotonia Spondyloepiphyseal dysplasia Congenital hypothyroidism Hypothermia Thyroid hypoplasia Increased thyroid-stimulating hormone level Ectopic thyroid Thyroid agenesis Large posterior fontanelle Thyroid hemiagenesis Spastic paraparesis Nystagmus Spasticity Cognitive impairment Flexion contracture Macrocephaly Ventriculomegaly Intellectual disability, severe Joint stiffness Abnormal pyramidal sign Spastic paraplegia Paraplegia Paraparesis Hemiareflexia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Erythema, related diseases and genetic alterations Low-set ears and Downturned corners of mouth, related diseases and genetic alterations Sensorineural hearing impairment and Azoospermia, related diseases and genetic alterations Abnormal facial shape and Distal sensory impairment, related diseases and genetic alterations Carcinoma and EEG abnormality, related diseases and genetic alterations Intellectual disability and Small hand, related diseases and genetic alterations