Intellectual disability, severe, and Stomach cancer

Diseases related with Intellectual disability, severe and Stomach cancer

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

Top matches:

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Other less relevant matches:

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

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

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Stomach cancer

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
Gastroesophageal reflux Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Growth delay Abnormal facial shape Scoliosis Postnatal microcephaly Short stature EEG abnormality Depressed nasal bridge Poor eye contact Myoclonus Constipation Bruxism Progressive microcephaly Cerebral atrophy Absent speech Epileptic encephalopathy Generalized myoclonic seizures Hypoplasia of the corpus callosum Spasticity Delayed myelination Developmental regression Feeding difficulties Neoplasm Failure to thrive Epicanthus

Rare Symptoms - Less than 30% cases

Small hand Short foot Epidermoid cyst Atonic seizures Drooling Hyperventilation Apnea Intellectual disability, profound Intestinal polyposis Apraxia Hyperactivity Deeply set eye High forehead Cerebellar atrophy Dystonia Irritability Intellectual disability, mild Hypsarrhythmia Athetosis Kyphosis Talipes equinovarus Muscular hypotonia Downslanted palpebral fissures Stereotypy Strabismus Low-set ears Hip dislocation Blepharophimosis Carcinoma Muscular hypotonia of the trunk Intellectual disability, progressive Abnormality of the dentition Kyphoscoliosis Clinodactyly Microphthalmia Anteverted nares Intrauterine growth retardation Sloping forehead Cognitive impairment Autistic behavior Colon cancer Hypertelorism Hearing impairment Focal-onset seizure Respiratory failure Opisthotonus Vaginal neoplasm Mask-like facies Hyperreflexia Respiratory insufficiency Broad-based gait Vomiting Cerebral cortical atrophy Rigidity Unsteady gait Polymicrogyria Hypertonia Hypoventilation Central hypoventilation Abnormal muscle tone Congenital encephalopathy Wide mouth Protruding tongue Pulmonic stenosis Self-injurious behavior Feeding difficulties in infancy Pachygyria Progressive encephalopathy Inability to walk Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves High palate Blindness Prominent forehead Broad forehead Severe global developmental delay Short palm Thick vermilion border Abnormality of the periventricular white matter Tapered finger Sleep disturbance Thick lower lip vermilion Tetraparesis Cerebral visual impairment Spastic tetraparesis Loss of consciousness Infantile spasms Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis Enlarged cisterna magna Relative macrocephaly Ataxia Inappropriate laughter Motor delay Autism Pes planus Neonatal hypotonia Postnatal growth retardation Genu valgum Dyskinesia Chorea Increased nuchal translucency Aspiration Cortical gyral simplification Breathing dysregulation Impaired social interactions Tongue thrusting Tented upper lip vermilion Pain Hirsutism Ptosis Macrocephaly Dysphagia Behavioral abnormality Recurrent respiratory infections Posteriorly rotated ears Aggressive behavior Mental deterioration Generalized tonic-clonic seizures Falls Gingival overgrowth Premature chromatid separation Aortic regurgitation Abnormal aortic morphology Papillary thyroid carcinoma Chorioretinal atrophy Agenesis of permanent teeth Neurofibromas Multiple lipomas Increased number of teeth Neoplasm of the lung Increased circulating cortisol level Brain neoplasm Astrocytoma Thyroid carcinoma Medulloblastoma Glioma Adrenocortical adenoma Hepatoblastoma Precocious puberty Keloids Thoracic kyphoscoliosis Chondrosarcoma Absent gallbladder Intestinal polyp Adrenocortical carcinoma Multiple impacted teeth Colorectal polyposis Cholangiocarcinoma Fibroadenoma of the breast Osteoma Abdominal mass Multiple gastric polyps Intestinal obstruction Sarcoma Adenomatous colonic polyposis Breast carcinoma Anemia Delayed speech and language development Upslanted palpebral fissure Coarse facial features Conductive hearing impairment Sparse hair Prominent nasal bridge Hypopigmentation of the skin Dental malocclusion Long eyelashes Low anterior hairline Bone marrow hypocellularity Narrow palate Proximal placement of thumb Hyperextensible skin Ovarian neoplasm Chromosome breakage Thick upper lip vermilion Macrodontia Duodenal stenosis Ovarian carcinoma Intellectual disability, moderate Leukemia Carious teeth Infertility Hyperpigmentation of the skin Horseshoe kidney Melanoma Unerupted tooth Odontoma Rhabdomyosarcoma Aplasia/Hypoplasia of the corpus callosum Growth hormone deficiency Dandy-Walker malformation Ambiguous genitalia Coarctation of aorta Short palpebral fissure Depressed nasal ridge Rhizomelia Cafe-au-lait spot Multicystic kidney dysplasia Finger clinodactyly Osteolysis Microretrognathia Holoprosencephaly Sleep apnea Ascites Abnormality of vision Myelodysplasia Nephroblastoma Aplasia/Hypoplasia of the cerebellum Atrioventricular canal defect Multiple cafe-au-lait spots Abnormality of immune system physiology Abnormal lung lobation Acute lymphoblastic leukemia Abnormality of the skull Duodenal atresia Abnormality of the upper limb Subvalvular aortic stenosis Triangular face Wide nose Duodenal adenocarcinoma Abnormality of cardiovascular system morphology Small intestine carcinoid Desmoid tumors Duodenal polyposis Congenital hypertrophy of retinal pigment epithelium Micrognathia Cleft palate Cataract Frontal bossing Abnormality of the skeletal system Ventricular septal defect Ventriculomegaly Atrial septal defect Short nose Abnormal heart morphology Bulbous nose Delayed skeletal maturation Clinodactyly of the 5th finger Glaucoma Hypothyroidism Polyhydramnios Low-set, posteriorly rotated ears Abnormality of the eye Craniosynostosis Corneal opacity Small for gestational age Muscular dystrophy Dolichocephaly Abnormality of skin pigmentation Long face EEG with generalized slow activity


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