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.


Top matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


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

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


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

High 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

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Other less relevant matches:

High 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

High match LIG4 SYNDROME


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

High 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

High 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

High match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


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

High match SECKEL SYNDROME 1; SCKL1


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

High match HOYERAAL-HREIDARSSON SYNDROME


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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