Anemia, and Microphthalmia

Diseases related with Anemia and Microphthalmia

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


Top matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ


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}.

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG


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}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

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Other less relevant matches:

Low 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

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 FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


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}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

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

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


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}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Top 5 symptoms//phenotypes associated to Anemia and Microphthalmia

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Bone marrow hypocellularity Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Neutropenia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Microphthalmia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Leukemia

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Short thumb

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Chromosomal breakage induced by crosslinking agents Cafe-au-lait spot Thrombocytopenia Absent thumb Horseshoe kidney Abnormality of cardiovascular system morphology Small for gestational age Intellectual disability Hearing impairment Failure to thrive Ectopic kidney Bruising susceptibility Cryptorchidism Reticulocytopenia Abnormal facial shape Hypertelorism Duplicated collecting system Abnormal heart morphology Abnormality of skin pigmentation Chromosome breakage Absent radius Renal agenesis Pancytopenia Complete duplication of thumb phalanx Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Anemic pallor Renal hypoplasia Hypergonadotropic hypogonadism Strabismus

Rare Symptoms - Less than 30% cases


Anal atresia Conductive hearing impairment Myelodysplasia Epicanthus Postnatal growth retardation Myopia Delayed skeletal maturation Breast carcinoma Abnormality of chromosome stability Hydrocephalus Multiple cafe-au-lait spots Congenital hypoparathyroidism High myopia Thickened cortex of long bones Basal ganglia calcification Small nail Increased bone mineral density Hypocalcemia High pitched voice Delayed cranial suture closure High hypermetropia Decreased testicular size Proportionate short stature Hypocalcemic tetany Papilledema Hypoparathyroidism Hyperphosphatemia Decreased skull ossification Delayed closure of the anterior fontanelle Bilateral microphthalmos Persistence of primary teeth Hypocalcemic seizures Tetany Brachydactyly Postnatal macrocephaly Hypothyroidism Colpocephaly Abnormal renal morphology Fused cervical vertebrae Short 1st metacarpal Duodenal atresia Absent septum pellucidum Patent foramen ovale Optic nerve hypoplasia Arnold-Chiari malformation Growth hormone deficiency Vesicoureteral reflux Triangular face Astigmatism Pallor Agenesis of corpus callosum Cortical thickening of long bone diaphyses Patent ductus arteriosus Atrial septal defect Ventricular septal defect Hypotelorism Brachycephaly Syndactyly Carious teeth Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Infertility Cleft palate Congenital cataract Upslanted palpebral fissure Narrow palate Low anterior hairline Long eyelashes Dental malocclusion Hypopigmentation of the skin Hip dislocation Prominent nasal bridge Blepharophimosis Sparse hair Carcinoma Coarse facial features Clinodactyly Ovarian neoplasm Anteverted nares Delayed speech and language development T-cell acute lymphoblastic leukemias Medulloblastoma Peters anomaly Acute leukemia Lipoma Anteriorly placed anus Acute myeloid leukemia Esotropia Corneal opacity Abnormality of the thumb Proximal placement of thumb Thick upper lip vermilion Hypermetropia Depressed nasal tip Abnormality of the liver Prominent forehead Severe short stature Edema Macrocephaly Flexion contracture Cataract Seizures Hypoplastic sacrum Forearm undergrowth Rectovaginal fistula Esophageal atresia Stomach cancer Tracheoesophageal fistula Hypoplasia of the radius Full cheeks Microtia Hydronephrosis Micropenis Short neck Wide nasal bridge Depressed nasal bridge Ovarian carcinoma Duodenal stenosis Macrodontia Small pituitary gland



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