Cryptorchidism, and Pancytopenia
Diseases related with Cryptorchidism and Pancytopenia
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Pancytopenia that can help you solving undiagnosed cases.
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Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.
Related symptoms:
- Short stature
- Hearing impairment
- Microcephaly
- Growth delay
- Micrognathia
SOURCES:
OMIM
MENDELIAN
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP
Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.
DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE
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
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Other less relevant matches:
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
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Growth delay
- Micrognathia
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about LIG4 SYNDROME
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
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
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.
SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
SOURCES:
OMIM
MENDELIAN
More info about SECKEL SYNDROME 1; SCKL1
Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about HOYERAAL-HREIDARSSON SYNDROME
Top 5 symptoms//phenotypes associated to Cryptorchidism and Pancytopenia
Symptoms // Phenotype |
% cases |
Microcephaly |
Very Common - Between 80% and 100% cases
|
Short stature |
Very Common - Between 80% and 100% cases
|
Anemia |
Common - Between 50% and 80% cases
|
Thrombocytopenia |
Common - Between 50% and 80% cases
|
Hearing impairment |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cryptorchidism and Pancytopenia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Intellectual disability
Uncommon Symptoms - Between 30% and 50% cases
Growth delay
Common Symptoms - More than 50% cases
Leukemia
Uncommon Symptoms - Between 30% and 50% cases
Bone marrow hypocellularity
Strabismus
Small for gestational age
Abnormality of skin pigmentation
Horseshoe kidney
Global developmental delay
Neoplasm
Absent thumb
Micrognathia
Abnormal heart morphology
Neutropenia
Absent radius
Myelodysplasia
Cafe-au-lait spot
Short thumb
Chromosomal breakage induced by crosslinking agents
Bruising susceptibility
Abnormality of cardiovascular system morphology
Intrauterine growth retardation
Ataxia
Seizures
Telangiectasia
Deficient excision of UV-induced pyrimidine dimers in DNA
Renal agenesis
Hypergonadotropic hypogonadism
Ectopic kidney
Prolonged G2 phase of cell cycle
Reticulocytopenia
Duplicated collecting system
Complete duplication of thumb phalanx
Anemic pallor
Microphthalmia
Epicanthus
Abnormality of the skeletal system
Blepharophimosis
Rare Symptoms - Less than 30% cases
Acute myeloid leukemia
Delayed skeletal maturation
Carcinoma
Optic atrophy
Ventricular septal defect
Lymphoma
Myeloid leukemia
Reticulated skin pigmentation
Brachycephaly
Upslanted palpebral fissure
Clinodactyly of the 5th finger
Delayed speech and language development
Hypopigmentation of the skin
Chromosome breakage
Hypothyroidism
Squamous cell carcinoma
Gastrointestinal hemorrhage
Premature graying of hair
Abnormal intestine morphology
Leukopenia
Hyperpigmentation of the skin
Hodgkin lymphoma
Cerebral calcification
Oral leukoplakia
Phimosis
Nail dystrophy
Aplastic anemia
Esophageal stricture
Osteoporosis
Cerebellar hypoplasia
Alopecia
Abnormal facial shape
Hypospadias
Immunodeficiency
Epiphora
Low-set ears
Telecanthus
Intellectual disability, moderate
Dental malocclusion
Hypoplasia of penis
Telangiectasia of the skin
Pulmonary fibrosis
Abnormality of the dentition
Wide nasal bridge
Postnatal growth retardation
Cataract
Sensorineural hearing impairment
Convex nasal ridge
Prominent nose
Microtia
Triangular face
Tapered finger
Single transverse palmar crease
Kyphosis
Thick eyebrow
Hyperactivity
Abnormally large globe
Talipes
Facial asymmetry
Abnormal cortical gyration
Pulmonic stenosis
Posteriorly rotated ears
Clinodactyly
Synophrys
Sloping forehead
Cerebellar vermis hypoplasia
Narrow face
Dislocated radial head
Elbow flexion contracture
Narrow palate
Sandal gap
Patent foramen ovale
Clitoral hypertrophy
Retrognathia
Pes planus
Hip dislocation
Hyperlordosis
Pachygyria
Dental crowding
Abnormality of the pinna
Hypoplasia of the corpus callosum
Severe short stature
Proportionate short stature
Hypoplasia of dental enamel
Severe intrauterine growth retardation
Cone-shaped epiphyses of the phalanges of the hand
Pes cavus
Cirrhosis
11 pairs of ribs
Ridged nail
Anosmia
Dermal atrophy
Pterygium
Neonatal respiratory distress
Flared metaphysis
Abnormality of coagulation
Increased antibody level in blood
Restrictive ventilatory defect
Generalized hyperpigmentation
Premature loss of teeth
Blepharitis
Testicular atrophy
Conjunctivitis
Excessive wrinkled skin
Keratoconjunctivitis
Lacrimal duct stenosis
Urethral stenosis
Reticular hyperpigmentation
Pancreatic adenocarcinoma
Abnormal leukocyte morphology
Brittle scalp hair
Fragile teeth
Generalized hypopigmentation of hair
Split nail
Pterygium of nails
Sparse eyelashes
Truncal ataxia
Acute monocytic leukemia
Respiratory distress
Selective tooth agenesis
Lumbar scoliosis
Small anterior fontanelle
Ivory epiphyses
Abnormal finger flexion creases
Hypoplasia of proximal radius
Large basal ganglia
Hypoplasia of proximal fibula
Generalized hypotonia
Failure to thrive
Visual impairment
Ventriculomegaly
Hypertonia
Sparse scalp hair
Hyporeflexia
Hyperhidrosis
Cerebral cortical atrophy
Hepatosplenomegaly
Muscular hypotonia of the trunk
Carious teeth
High palate
Sepsis
Gliosis
Decreased testicular size
Oligohydramnios
Decreased fetal movement
Downslanted palpebral fissures
Nystagmus
Cleft palate
Cutaneous photosensitivity
Aplasia/Hypoplasia of the nipples
Chordee
Hepatomegaly
Recurrent infections
Abnormality of the nervous system
Erythema
Malabsorption
Lymphadenopathy
Thin vermilion border
Type II diabetes mellitus
Low anterior hairline
Congenital sensorineural hearing impairment
Psoriasiform dermatitis
Leukocytosis
Combined immunodeficiency
Biparietal narrowing
Severe combined immunodeficiency
Acute leukemia
Abnormality of chromosome stability
Abnormality of bone marrow cell morphology
Bird-like facies
Large beaked nose
Hypoplastic nipples
Bifid scrotum
Osteopenia
Renal insufficiency
Abnormality of the kidney
Bulbous nose
Short palpebral fissure
Hypoplasia of the radius
Vitiligo
Pelvic kidney
Squamous cell carcinoma of the tongue
Hypertelorism
Myopia
Intellectual disability, severe
Malar flattening
Abnormal dermatoglyphics
Hernia
Micropenis
Umbilical hernia
Proteinuria
Wide mouth
Stage 5 chronic kidney disease
Everted lower lip vermilion
Wide intermamillary distance
Renal hypoplasia
Thick lower lip vermilion
Renal dysplasia
Hypertension
Retinopathy
Scoliosis
Cone/cone-rod dystrophy
Polyneuropathy
Aciduria
Abnormality of the skin
Amenorrhea
Bilateral sensorineural hearing impairment
Anorexia
Situs inversus totalis
Cardiac arrest
Hoarse voice
Aminoaciduria
Polycystic ovaries
Retinal degeneration
Hyperglycemia
Secondary amenorrhea
Macrocytic anemia
Megaloblastic anemia
Abdominal situs inversus
Abnormality of the basal ganglia
Sideroblastic anemia
Progressive peripheral neuropathy
Paroxysmal atrial tachycardia
Thiamine-responsive megaloblastic anemia
Retinal dystrophy
Paresthesia
Dry skin
Cardiomyopathy
Nail dysplasia
Fine hair
Abnormal lung morphology
Portal hypertension
Interstitial pulmonary abnormality
Aseptic necrosis
Pulmonary hemorrhage
Brachydactyly
Syndactyly
Hypotelorism
Atrial septal defect
Lethargy
Diarrhea
Congestive heart failure
Headache
Visual loss
Arrhythmia
Diabetes mellitus
Gastroesophageal reflux
Hypoglycemia
Pallor
Abnormal cardiac septum morphology
Stroke
Anal mucosal leukoplakia
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