Anemia, and Anteverted nares

Diseases related with Anemia and Anteverted nares

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


Top matches:

Low match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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

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Other less relevant matches:

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Low match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Anteverted nares

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Micrognathia Short stature Failure to thrive Epicanthus High forehead Low-set ears Sensorineural hearing impairment Macroglossia Flat face Telecanthus Brachydactyly Depressed nasal bridge Talipes equinovarus Cryptorchidism Myopia Seizures Hearing impairment

Rare Symptoms - Less than 30% cases


Hypothyroidism Cardiomyopathy Macrocephaly Dental malocclusion Wormian bones Hip dislocation Prominent nasal bridge Constipation Generalized hypotonia Short nose Cataract Abnormality of movement Cerebral cortical atrophy Self-injurious behavior Autism Micropenis Behavioral abnormality Muscular hypotonia Clinodactyly Nystagmus Sparse lateral eyebrow Brachycephaly Syndactyly Long philtrum Wide nasal bridge Upslanted palpebral fissure High palate Microphthalmia Recurrent infections Splenomegaly Osteopenia Sparse hair Hypopigmentation of the skin Profound global developmental delay Hepatomegaly Craniofacial dysostosis Congenital ptosis Parietal foramina Multiple exostoses Cutaneous syndactyly between fingers 2 and 5 Spasticity Visual impairment Hyperreflexia Intellectual disability, severe Fever Ventriculomegaly Depressed nasal tip Hypertonia Renal insufficiency Thrombocytopenia Cerebellar hypoplasia Narrow mouth Jaundice Hepatosplenomegaly Elevated hepatic transaminase Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Decreased skull ossification Turricephaly Exostoses Short philtrum Acute monocytic leukemia Strabismus Facial hypotonia Acute myeloid leukemia Ptosis Hypertension Downslanted palpebral fissures Myeloid leukemia Obesity Neurofibromas Myelodysplasia Autistic behavior Broad forehead Skin rash Delayed puberty Downturned corners of mouth Single transverse palmar crease Broad nasal tip Prominent nose Underdeveloped nasal alae Abnormality of the genital system Cutaneous syndactyly Sparse eyebrow Nephroblastoma Leukemia Aniridia Abnormality of the liver Congenital cataract Corneal opacity Thick lower lip vermilion Agenesis of corpus callosum Gastroesophageal reflux Hydronephrosis Abnormality of the kidney Feeding difficulties in infancy Joint stiffness Spastic paraplegia Nausea and vomiting Everted lower lip vermilion Ambiguous genitalia Hypoplasia of penis Depressed nasal ridge Depressivity Aganglionic megacolon Recurrent urinary tract infections Abnormality of the face Tented upper lip vermilion Encephalitis Dysphasia Male pseudohermaphroditism Volvulus Abnormal hemoglobin U-Shaped upper lip vermilion Abnormality of fontanelles Clinodactyly of the 5th finger Midface retrusion Generalized tonic-clonic seizures Postnatal microcephaly Short 2nd finger Polymicrogyria Tetraplegia Gliosis Neuronal loss in central nervous system Cerebral calcification Sloping forehead Intellectual disability, profound Status epilepticus Tetraparesis Pachygyria Decreased liver function Abnormality of the dentition Cerebral visual impairment Opacification of the corneal stroma Microretrognathia Purpura Spastic tetraparesis Lissencephaly Petechiae Increased CSF protein Congenital microcephaly Flexion contracture Optic atrophy Blindness Myeloproliferative disorder Refractory anemia Hypochromic anemia Congenital hip dislocation Joint laxity Intellectual disability, moderate Dry skin Delayed eruption of teeth Short distal phalanx of finger Limb undergrowth Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Talipes Sparse and thin eyebrow Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Small for gestational age Diarrhea Skeletal dysplasia Hypopigmented skin patches Malar flattening Breast carcinoma Coarse facial features Conductive hearing impairment Carcinoma Blepharophimosis Delayed speech and language development Neoplasm Anisopoikilocytosis Long eyelashes Low anterior hairline Bone marrow hypocellularity Narrow palate Proximal placement of thumb Elevated serum creatine phosphokinase Ovarian neoplasm Chromosome breakage Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Cognitive impairment Motor delay Spotty hypopigmentation Dilatation Delayed skeletal maturation Proptosis Immunodeficiency Long toe Tapered finger Dysphagia Atrial septal defect Acute myelomonocytic leukemia Juvenile myelomonocytic leukemia Pectus excavatum Inguinal hernia Monocytosis Developmental regression Wide mouth Craniosynostosis Smooth philtrum Hypodontia Frontal bossing Webbed neck Hip dysplasia High myopia Low posterior hairline Mitral regurgitation Hypoplasia of dental enamel Preauricular skin tag Microcytic anemia Hypoparathyroidism Down-sloping shoulders Intrauterine growth retardation Moderate global developmental delay Chronic myelomonocytic leukemia Severe short stature Hypospadias Lymphopenia Pneumonia Recurrent respiratory infections Umbilical hernia Respiratory tract infection Malabsorption Neurodegeneration Sepsis Decreased antibody level in blood Otitis media Bronchiectasis Sinusitis Recurrent pneumonia Impaired T cell function Malnutrition Combined immunodeficiency Bronchitis Protruding tongue Shawl scrotum Agammaglobulinemia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Abnormality of the male genitalia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and High myopia, related diseases and genetic alterations Fever and Facial asymmetry, related diseases and genetic alterations Hyperreflexia and Dyspnea, related diseases and genetic alterations Macrocephaly and Cleft upper lip, related diseases and genetic alterations High palate and Systemic lupus erythematosus, related diseases and genetic alterations

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