Cryptorchidism, and Abnormal bleeding

Diseases related with Cryptorchidism and Abnormal bleeding

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


Top matches:

Low match THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA


XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).

Related symptoms:

  • Cryptorchidism
  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME


Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Low match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY


Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC


Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Is also known as facc|fac|fa3|fanconi pancytopenia, type 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Abnormal bleeding

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Abnormal bleeding. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pancytopenia Abnormality of skin pigmentation Microcephaly Hearing impairment Intellectual disability Neoplasm Deficient excision of UV-induced pyrimidine dimers in DNA Absent radius Microphthalmia Abnormality of cardiovascular system morphology Anemic pallor Prolonged G2 phase of cell cycle Chromosomal breakage induced by crosslinking agents Complete duplication of thumb phalanx Duplicated collecting system Reticulocytopenia Absent thumb Leukemia Ectopic kidney Horseshoe kidney Hypergonadotropic hypogonadism Short thumb Cafe-au-lait spot Renal agenesis Neutropenia Abnormal heart morphology Strabismus Small for gestational age Ptosis Webbed neck

Rare Symptoms - Less than 30% cases


Abnormal facial shape Gastrointestinal hemorrhage Osteopenia Global developmental delay Osteoporosis Hypertension Hernia Growth delay Diarrhea Portal hypertension Pulmonic stenosis Abnormal intestine morphology Low-set, posteriorly rotated ears Hypoalbuminemia Hypertrophic cardiomyopathy Epistaxis Downslanted palpebral fissures Pain Hypertelorism Short neck Macrocephaly Epicanthus Prolonged bleeding time Hypokalemia Clubbing Diplopia Telangiectasia Colon cancer Hemoptysis Hamartoma Multiple gastric polyps Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Melena Intussusception Duodenal adenocarcinoma Polycythemia Intestinal polyposis Hepatic vascular malformations Anemia of inadequate production Acanthocytosis Clubbing of fingers Hematochezia Adenocarcinoma of the colon Persistent bleeding after trauma Anisocytosis Pulmonary fibrosis Brachycephaly Delayed skeletal maturation Syndactyly Brachydactyly Pulmonary hemorrhage Reticulated skin pigmentation Phimosis Esophageal stricture Aplastic anemia Oral leukoplakia Aseptic necrosis Hodgkin lymphoma Interstitial pulmonary abnormality Premature graying of hair Epiphora Petechiae Nail dystrophy Ataxia Delayed speech and language development Intrauterine growth retardation Alopecia Cerebellar hypoplasia Retinopathy Dry skin Leukopenia Lymphoma Nail dysplasia Cerebral calcification Fine hair Abnormal lung morphology Hyperpigmentation of the skin Cyanosis Headache Chest pain Pectus excavatum of inferior sternum Sparse eyebrow Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Curly hair Blue irides High anterior hairline Micrognathia Thick lower lip vermilion Abnormality of the skeletal system Inguinal hernia Macrotia Pes planus Scarring Hip dislocation Papule Mitral valve prolapse Sparse and thin eyebrow Wide intermamillary distance Osteoarthritis Abnormality of the helix Congenital thrombocytopenia Giant platelets Dysphagia Specific learning disability Abnormality of the face Abnormality of the thorax Multiple cafe-au-lait spots Abnormality of the lymphatic system Dental malocclusion Abdominal wall muscle weakness Macrothrombocytopenia Scoliosis Depressed nasal bridge Ventricular septal defect Atrial septal defect Posteriorly rotated ears Polyhydramnios Low posterior hairline Narrow palate Vertigo Respiratory distress Protein-losing enteropathy Enterocolitis Intractable diarrhea Seizures Poikilocytosis Failure to thrive Fatigue Congestive heart failure Malnutrition Abnormal platelet morphology Abdominal pain Dyspnea Umbilical hernia Jaundice Carcinoma Stroke Cough Villous atrophy Hyponatremia Cutis laxa Knee dislocation Hyperextensible skin Redundant skin Bilateral ptosis Hallux valgus Atrophic scars Thoracic scoliosis Abnormality of the vasculature Thin eyebrow Squared iliac bones Hypercholesterolemia Shoulder dislocation Ventral hernia Bursitis Vomiting Acidosis Metabolic acidosis Sepsis Hyperlipidemia Hypotelorism



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