Hypertelorism, and Acute myeloid leukemia

Diseases related with Hypertelorism and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Hypertelorism and Acute myeloid leukemia that can help you solving undiagnosed cases.

Top matches:

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
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Other less relevant matches:

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Hypertelorism and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Acute myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Short neck Epicanthus Anemia Neoplasm Hearing impairment Scoliosis Myeloid leukemia Myelodysplasia Webbed neck Thrombocytopenia Edema Downslanted palpebral fissures Strabismus Microcephaly Global developmental delay Bone marrow hypocellularity Ventricular septal defect Cafe-au-lait spot Aplastic anemia Nausea and vomiting Lymphoma Neutropenia Short thumb Malar flattening Acute monocytic leukemia Depressed nasal bridge Growth delay Carcinoma Cryptorchidism Headache Hydrocephalus Frontal bossing Acute lymphoblastic leukemia Weight loss Delayed speech and language development Low-set ears Cataract Ptosis Pancytopenia Abnormal cardiac septum morphology Fatigue Cleft palate Multiple cafe-au-lait spots Micrognathia Cellulitis High palate Chromosome breakage Low posterior hairline Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Wide intermamillary distance Neurofibromas Cognitive impairment Kyphosis Pain Umbilical hernia Proptosis Muscle weakness Abnormality of the uterus Ataxia Astrocytoma Upslanted palpebral fissure Relative macrocephaly Immunodeficiency Arteriovenous malformation Broad neck Seizures Telangiectasia Visual impairment Midface retrusion Hepatomegaly Cranial nerve paralysis Increased intracranial pressure Fever Abnormal facial shape Abnormality of the kidney Hypopigmented skin patches Visual loss Hypothyroidism Patent ductus arteriosus Pulmonic stenosis Recurrent infections Intracranial hemorrhage Nystagmus Pes planus Hypertrophic cardiomyopathy Reticulocytopenia Triphalangeal thumb Chromosomal breakage induced by crosslinking agents Hyperpigmentation of the skin Congestive heart failure Absent thumb Leukopenia Pallor Hypopigmentation of the skin Osteosarcoma Bruising susceptibility Anemia of inadequate production Abnormality of skin pigmentation Vertigo Anal atresia Almond-shaped palpebral fissure Abnormality of cardiovascular system morphology Postnatal growth retardation Vomiting Small for gestational age Hypoplastic anemia Intrauterine growth retardation Partial duplication of thumb phalanx Glaucoma Dry skin Synophrys Thin vermilion border Hirsutism Nail dystrophy External ear malformation Hearing abnormality Poor speech Downturned corners of mouth Short foot Nail dysplasia Echolalia Irregular hyperpigmentation Regional abnormality of skin Recurrent respiratory infections Syndactyly Splenomegaly Cerebellar atrophy Respiratory insufficiency Sensorineural hearing impairment Hypointensity of cerebral white matter on MRI Abnormal hair whorl Increased body weight Spotty hypopigmentation Broad face Broad hallux Prominent supraorbital ridges Generalized hirsutism Absent radius Aplasia/Hypoplasia of the radius Wide mouth Abnormality of the ulna Aggressive behavior Prolonged G2 phase of cell cycle Abnormal aortic morphology Abnormality of nervous system morphology Deficient excision of UV-induced pyrimidine dimers in DNA Primary hypothyroidism Duodenal stenosis Duplicated collecting system Anemic pallor Meckel diverticulum Abnormality of chromosome stability Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Clubbing of toes Decreased fertility in males Absent testis Compensated hypothyroidism Scarring Neoplasm of head and neck Abnormal localization of kidney Deeply set eye Abnormality of the testis Macrotia Micropenis Absent speech Abnormal eyelid morphology Abnormal carotid artery morphology B-cell lymphoma Abnormality of the upper limb Abnormality of the thumb Abnormal renal morphology Bicornuate uterus Abnormality of femur morphology Abnormality of the hypothalamus-pituitary axis Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Abnormal aortic valve morphology Aplasia/Hypoplasia of the uvula Respiratory failure Soft tissue sarcoma Neurological speech impairment Inguinal freckling Abnormality of the sternum Pleural effusion Systemic lupus erythematosus Hyperextensible skin Left ventricular hypertrophy Ventricular hypertrophy Abnormality of the cardiovascular system Polyhydramnios Hyperkeratosis Cardiomyopathy Pectus excavatum of inferior sternum Graves disease Optic nerve glioma Prominent nasolabial fold Superior pectus carinatum Axillary freckling Lisch nodules Secundum atrial septal defect Freckling Cubitus valgus Specific learning disability Telecanthus Curly hair Chylothorax Neuroblastic tumors Lower limb hyperreflexia Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Mild short stature Palmoplantar cutis laxa Foot dorsiflexor weakness Gingival overgrowth Recurrent otitis media Eczema Generalized tonic-clonic seizures Skeletal dysplasia Polydactyly Prominent forehead Pes cavus Abnormality of the dentition Posteriorly rotated ears Pineoblastoma Lymphadenopathy Hypercoagulability Postural instability Skin rash Blindness Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Acute leukemia Sarcoma Prolonged bleeding time Leukocytosis Chronic otitis media Lymphedema Hypotelorism Migraine Tapered finger Hematuria Hemolytic anemia Cirrhosis Anorexia Uveitis Retinal calcification Burkitt lymphoma Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Fibrosarcoma Buphthalmos Glioblastoma multiforme Malar rash Leukocoria Hydroureter Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Abnormality of blood and blood-forming tissues Hypospadias Ectopic kidney Hypoplasia of the maxilla Exotropia Chronic diarrhea Subcutaneous nodule Broad thumb Intention tremor Overgrowth Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Palmoplantar keratoderma Lymphopenia Polymicrogyria Joint hypermobility Papule Intellectual disability, moderate Proximal muscle weakness Narrow mouth Autism Pectus excavatum Dilatation Gynecomastia Neoplasm of the skin Diarrhea Macule Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Drooling Melanocytic nevus Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hemangioma Intellectual disability, mild Myopathy Scaphocephaly Nausea Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Hypoplasia of the radius Abnormal dermatoglyphics Hydrops fetalis Depressed nasal ridge Coarctation of aorta Premature birth Cleft upper lip Vertebral fusion Narrow chest Lethargy Cleft lip Retrognathia Flexion contracture Embryonal neoplasm Medulloblastoma Neuroblastoma Nephroblastoma Colon cancer Macrocytic anemia Tremor Elevated red cell adenosine deaminase activity Skeletal muscle atrophy Myopia Brachydactyly Motor delay Generalized hypotonia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Persistence of hemoglobin F Thrombocytosis Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Increased mean corpuscular volume 11 pairs of ribs Hypoplastic ilia Hashimoto thyroiditis Lipoma Squamous cell carcinoma Abnormality of the eye Astigmatism Facial asymmetry Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Abnormality of the liver Irritability Diabetes mellitus Tetralogy of Fallot Hypogonadism Severe short stature Clinodactyly of the 5th finger Microphthalmia Renal insufficiency Respiratory distress Ventriculomegaly Abnormality of the skeletal system Hyperreflexia Renal agenesis Sloping forehead Multiple trichilemmomata Type I diabetes mellitus Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Azoospermia Horseshoe kidney Oligohydramnios Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Lobular carcinoma in situ Merkel cell skin cancer Abnormality of the vasculature Cellular immunodeficiency Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Colonic diverticula Intestinal polyposis Ovarian cyst Furrowed tongue Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Adenoma sebaceum Subcutaneous lipoma Ductal carcinoma in situ Mucosal telangiectasiae Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Abnormality of the penis Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Short 3rd metacarpal


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