Carcinoma, and Encephalocele

Diseases related with Carcinoma and Encephalocele

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


Top matches:

Low match HEREDITARY DIFFUSE GASTRIC CANCER


Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

HEREDITARY DIFFUSE GASTRIC CANCER Is also known as hereditary diffuse cancer of stomach|hereditary diffuse gastric adenocarcinoma|familial diffuse cancer of stomach|familial diffuse gastric cancer|gastric cancer, familial diffuse|fdgc|hdgc|gastric cancer, hereditary diffuse

Related symptoms:

  • Neoplasm
  • Cleft palate
  • Carcinoma
  • Cleft lip
  • Cleft upper lip


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY DIFFUSE GASTRIC CANCER

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Low match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

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Other less relevant matches:

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


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

Low match PEDIATRIC HEPATOCELLULAR CARCINOMA


Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2


IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


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

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


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

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


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

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Encephalocele

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Flexion contracture Triangular face Recurrent otitis media Recurrent sinusitis Delayed skeletal maturation Micrognathia Cryptorchidism Clinodactyly Coarse facial features Decreased body weight Hepatocellular carcinoma Hepatomegaly Generalized hypotonia Lymphoma Short stature Abdominal pain Cirrhosis Hepatic fibrosis Otitis media Bulbous nose Immunodeficiency Aplastic anemia Nail dysplasia Pancytopenia Abnormality of the dentition Bone marrow hypocellularity Anemia Nail dystrophy Esophageal stricture Oral leukoplakia Spastic paraplegia Nystagmus Strabismus Spasticity Cognitive impairment Posterior subcapsular cataract Holoprosencephaly Spastic paraparesis Macrocephaly Paraparesis Abnormal pyramidal sign Ventriculomegaly Hydrocephalus Intellectual disability, severe Seizures Paraplegia Agenesis of corpus callosum Joint stiffness Dilatation Large posterior fontanelle Thyroid hemiagenesis Stridor Growth hormone deficiency Abnormal vertebral morphology Bradycardia Thoracic kyphoscoliosis Hyperbilirubinemia Down-sloping shoulders Thoracic kyphosis Goiter Myotonia Thyroid dysgenesis Spondyloepiphyseal dysplasia Congenital hypothyroidism Hypothermia Thyroid hypoplasia Increased thyroid-stimulating hormone level Hoarse cry Ectopic thyroid Thyroid agenesis Subcapsular cataract Increased intracranial pressure Lipodystrophy Premature graying of hair Pterygium of nails Hyperpigmentation of the skin Sparse eyelashes Pterygium Epiphora Pulmonary fibrosis Poikiloderma Nasolacrimal duct obstruction Decreased mean platelet volume Pain Sparse scalp hair Cataract Skeletal muscle atrophy Frontal bossing Kyphosis Pectus excavatum Kyphoscoliosis Prominent nasal bridge Pes planus Telangiectasia Small nail Adducted thumb Corticospinal tract hypoplasia Hemiplegia/hemiparesis Absent septum pellucidum Deeply set eye Renal cell carcinoma Elbow flexion contracture Aqueductal stenosis Clear cell renal cell carcinoma Flexion contracture of thumb Noncommunicating hydrocephalus Hepatic failure Thrombocytopenia Single transverse palmar crease Alopecia Abdominal distention Osteoporosis Carious teeth Abnormality of skin pigmentation Microdontia Macroglossia Thyroiditis Dry skin Narrow mouth Opportunistic infection Bronchiolitis obliterans organizing pneumonia Hearing impairment Ptosis Feeding difficulties Depressed nasal bridge Wide nasal bridge Long philtrum Blepharophimosis Papilloma Smooth philtrum Joint hypermobility Thin vermilion border Prominent nose Cafe-au-lait spot Scrotal hypoplasia Motor delay Fatigue Bronchiolitis obliterans Bronchiolitis Obesity Intrauterine growth retardation Cleft lip Cleft upper lip Oral cleft Breast carcinoma Stomach cancer Chronic atrophic gastritis Helicobacter pylori infection Acrania Cerebellar hypoplasia Hodgkin lymphoma Esophageal stenosis Pneumonia Hemolytic anemia Inflammatory abnormality of the skin Sinusitis Lymphopenia Psoriasiform dermatitis Squamous cell carcinoma Autoimmune hemolytic anemia Vomiting Abnormality of the liver Lethargy Recurrent sinopulmonary infections Meningitis Recurrent pneumonia Recurrent bacterial infections Conjunctivitis IgA deficiency Cleft palate IgG deficiency Recurrent bronchitis IgM deficiency Decreased antibody level in blood Impaired T cell function Follicular hyperplasia Gastrointestinal carcinoma Muscular hypotonia Constipation Hypothyroidism Umbilical hernia Feeding difficulties in infancy Bronchiectasis Autoimmunity Hepatic steatosis Chronic infection Hepatitis Type II diabetes mellitus Thrombocytosis Neoplasm of the liver Hypertyrosinemia Micronodular cirrhosis Hepatoblastoma Chronic hepatitis Elevated alpha-fetoprotein Recurrent infections Giant cell hepatitis Embryonal neoplasm Epigastric pain Portal vein thrombosis Hepatic necrosis Viral hepatitis Subacute progressive viral hepatitis Diarrhea Splenomegaly Fulminant hepatic failure



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