Abnormal facial shape, and Stomach cancer

Diseases related with Abnormal facial shape and Stomach cancer

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Stomach cancer that can help you solving undiagnosed cases.


Top matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


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

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


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

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match FTH1-RELATED IRON OVERLOAD


FTH1-RELATED IRON OVERLOAD Is also known as fth1-associated iron overload|iron overload, autosomal dominant

Related symptoms:

  • Neoplasm
  • Increased serum ferritin
  • Stomach cancer


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FTH1-RELATED IRON OVERLOAD

Low match LI-FRAUMENI SYNDROME 2; LFS2


Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


SOURCES: MESH OMIM MENDELIAN

More info about LI-FRAUMENI SYNDROME 2; LFS2

Low match COMPLEMENT COMPONENT 9 DEFICIENCY; C9D


COMPLEMENT COMPONENT 9 DEFICIENCY; C9D Is also known as c9 deficiency

Related symptoms:

  • Neoplasm
  • Jaundice
  • Stomach cancer
  • Hemoglobinuria
  • Complement deficiency


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT COMPONENT 9 DEFICIENCY; C9D

Low match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5


Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Lymphoma
  • Breast carcinoma
  • Colon cancer


SOURCES: MESH OMIM MENDELIAN

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5

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 LYNCH SYNDROME I


Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.The Muir-Torre syndrome (MRTES ) is a form of Lynch syndrome II associated with sebaceous skin tumors. Genetic Heterogeneity of HNPCCHNPCC is a genetically heterogeneous disease. See also HNPCC2 (OMIM ), caused by mutation in the MLH1 gene (OMIM ); HNPCC4 (OMIM ), caused by mutation in the PMS2 gene (OMIM ); HNPCC5 (OMIM ), caused by mutation in the MSH6 gene (OMIM ); HNPCC6 (OMIM ), caused by mutation in the TGFBR2 gene (OMIM ); HNPCC7 (OMIM ), caused by mutation in the MLH3 gene (OMIM ). HNPCC8 (OMIM ) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene (OMIM ) and intergenic regions directly upstream of the MSH2 gene.Since defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.

LYNCH SYNDROME I Is also known as colorectal cancer, hereditary nonpolyposis, type 1|fcc1|hnpcc1|coca1|colon cancer, familial nonpolyposis, type 1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Neoplasm of the skin
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about LYNCH SYNDROME I

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Stomach cancer

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Breast carcinoma Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Ovarian carcinoma Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Stomach cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sarcoma Cleft palate Ovarian neoplasm Colon cancer Coarse facial features Intellectual disability Epicanthus Microcephaly Hearing impairment

Rare Symptoms - Less than 30% cases


Short stature Intrauterine growth retardation Global developmental delay Micrognathia Cataract Downslanted palpebral fissures Hypertelorism Frontal bossing Abnormality of the skeletal system Hyperpigmentation of the skin Cleft lip Pain Abdominal pain Glaucoma Growth delay Oral cleft Cleft upper lip Endometrial carcinoma Clinodactyly Anemia Sparse hair Chronic atrophic gastritis Blepharophimosis Neoplasm of the pancreas Neoplasm of the skin Muscle stiffness Melanocytic nevus Inflammation of the large intestine Iris coloboma Hemivertebrae Postaxial polydactyly Palmoplantar keratoderma Nephritis Nevus Hypotension Glomerulonephritis Bradycardia Short ribs Spina bifida occulta Cerebral calcification Hypogonadotrophic hypogonadism Abnormality of the ribs Relative macrocephaly Hemiparesis Disproportionate tall stature Exotropia Spina bifida Retrognathia Arachnodactyly Visual loss Cryptorchidism Spasticity Motor delay Dysarthria Brachydactyly Wide nasal bridge Macrocephaly Hydrocephalus Abnormality of the dentition Syndactyly Pectus excavatum Brachycephaly Carious teeth Polydactyly Proptosis Mandibular prognathia Kyphoscoliosis Basal cell carcinoma EEG abnormality Proteinuria Telecanthus Facial palsy Coloboma Papule Hypotrichosis Milia Ulcerative colitis Long fingers Glioma Curved fingers Bifid ribs Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Plantar pits Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Increased serum ferritin Meningioma Jaundice Calcification of falx cerebri Hemoglobinuria Complement deficiency Paroxysmal nocturnal hemoglobinuria Decreased serum complement C9 Lymphoma Hodgkin lymphoma Hereditary nonpolyposis colorectal carcinoma Helicobacter pylori infection Acrania Leukemia Prostate cancer Gastritis Bladder neoplasm Histiocytoma Orbital cyst Agenesis of permanent teeth Ataxia Vertebral fusion Colitis Abnormality of the sternum Thoracic scoliosis Sprengel anomaly Narrow nose Fragile nails Down-sloping shoulders Skin tags Short 4th metacarpal Abnormality of the neck Neoplasm of the endocrine system Broad face Brain neoplasm Palmar pits Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Hamartomatous polyposis Fibroma Abnormality of the sense of smell Vertebral wedging Parietal bossing Multiple impacted teeth Severe hydrocephalus Short distal phalanx of the thumb Strabismus Neurofibromas Scoliosis Muscular dystrophy Delayed skeletal maturation Clinodactyly of the 5th finger Hypothyroidism Polyhydramnios High forehead Deeply set eye Low-set, posteriorly rotated ears Apnea Abnormality of the eye Craniosynostosis Corneal opacity Small for gestational age Dolichocephaly Abnormality of cardiovascular system morphology Abnormality of skin pigmentation Long face Bulbous nose Wide nose Ascites Triangular face Growth hormone deficiency Dandy-Walker malformation Sloping forehead Ambiguous genitalia Coarctation of aorta Short palpebral fissure Depressed nasal ridge Abnormal heart morphology Short nose Cafe-au-lait spot Narrow palate Failure to thrive Delayed speech and language development Anteverted nares Upslanted palpebral fissure Conductive hearing impairment Prominent nasal bridge Hip dislocation Hypopigmentation of the skin Dental malocclusion Long eyelashes Low anterior hairline Bone marrow hypocellularity Proximal placement of thumb Intellectual disability, mild Chromosome breakage Thick upper lip vermilion Macrodontia Duodenal stenosis Seizures Generalized hypotonia Muscular hypotonia Low-set ears Cognitive impairment Depressed nasal bridge Ventricular septal defect Ventriculomegaly Atrial septal defect Rhizomelia Multicystic kidney dysplasia Giant hypertrophic gastritis Irregular hyperpigmentation Weight loss Pallor Abnormality of the liver Skin rash Nausea and vomiting Abdominal distention Gastrointestinal hemorrhage Eosinophilia Urticaria Intestinal obstruction Large hands Hypermelanotic macule Lipoma Vomiting Paraganglioma Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Constipation Dysphagia Finger clinodactyly Abnormality of immune system physiology Osteolysis Microretrognathia Holoprosencephaly Aortic regurgitation Aplasia/Hypoplasia of the corpus callosum Sleep apnea Abnormality of vision Myelodysplasia Nephroblastoma Aplasia/Hypoplasia of the cerebellum Atrioventricular canal defect Multiple cafe-au-lait spots Abnormal lung lobation Fatigue Acute lymphoblastic leukemia Abnormality of the skull Duodenal atresia Abnormality of the upper limb Intestinal polyposis Subvalvular aortic stenosis Rhabdomyosarcoma Abnormal aortic morphology Increased nuchal translucency Epidermoid cyst Premature chromatid separation Vaginal neoplasm Fever Adenocarcinoma of the colon



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Abnormality of the metaphysis, related diseases and genetic alterations Fever and Astigmatism, related diseases and genetic alterations Edema and Gait ataxia, related diseases and genetic alterations Visual impairment and Myopia, related diseases and genetic alterations High palate and Otitis media, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more