Abnormal facial shape, and Hemolytic anemia

Diseases related with Abnormal facial shape and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Hemolytic anemia that can help you solving undiagnosed cases.


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Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

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Other less relevant matches:

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match DIAMOND-BLACKFAN ANEMIA 4; DBA4


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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Growth delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Hearing impairment Global developmental delay Recurrent infections Immunodeficiency Intellectual disability Seizures Eczema Atopic dermatitis Lymphopenia Recurrent skin infections

Rare Symptoms - Less than 30% cases


Short stature Ataxia Failure to thrive Sensorineural hearing impairment Recurrent viral infections High palate Recurrent respiratory infections Hip dislocation Myoclonus Hypertension Hernia Hemiplegia Vesicoureteral reflux Overgrowth Recurrent urinary tract infections Redundant skin Narrow mouth Cor pulmonale Anteverted nares Atrial septal defect Thrombocytopenia Cerebral cortical atrophy Combined immunodeficiency Congestive heart failure Recurrent bacterial infections Asthma Ichthyosis Abnormal lung morphology Hypothyroidism Bronchiectasis Respiratory failure Myelodysplasia Autoimmune hemolytic anemia Neoplasm Coarse facial features Respiratory tract infection Methylmalonic aciduria Long philtrum Cleft palate Spasticity Ectopia lentis Flexion contracture Depressed nasal bridge Hepatomegaly Hyperreflexia Macrocephaly Slurred speech Atherosclerosis Short neck Hypoplasia of the corpus callosum Cerebellar atrophy Short nose Malar flattening Hypertelorism Cerebral atrophy Abnormality of retinal pigmentation Anorexia Absent speech Obesity Encephalopathy Patent ductus arteriosus Pneumonia Cerebellar hypoplasia Broad-based gait Posteriorly rotated ears Upslanted palpebral fissure Micropenis Myeloproliferative disorder Micrognathia Erythroid hypoplasia Homocystinuria Decreased methylcobalamin Myelopathy Gastritis Right ventricular failure Hemolytic-uremic syndrome Megaloblastic anemia Thromboembolism Atrophy of the spinal cord Disproportionate tall stature Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Acute myelomonocytic leukemia Hyperhomocystinemia Reticulocytopenia Diffuse hepatic steatosis Increased mean corpuscular volume Macrocytic anemia Refractory anemia Thyroglossal cyst Polyhydramnios Cystathioninemia Juvenile myelomonocytic leukemia Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Apathy Vitamin B12 deficiency Decreased methionine synthase activity Monocytosis Abnormality of the eye Retrognathia Central hypotonia Bird-like facies Splenomegaly Leukemia Pierre-Robin sequence Neurofibromas Epileptic spasms Absent septum pellucidum B lymphocytopenia Infantile spasms Myeloid leukemia Prominent occiput Large for gestational age Overfolded helix Scaling skin Cardiorespiratory arrest Decrease in T cell count Deep philtrum Triangular mouth Bulbous nose Abnormality of the pons Decreased antibody level in blood Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Micronodular cirrhosis Sloping forehead Duplicated collecting system Convex nasal ridge Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Elevated alkaline phosphatase Widely spaced teeth Neonatal hypotonia Stroke Downturned corners of mouth Wide nose Short distal phalanx of finger Hepatic failure Cirrhosis Abnormality of eye movement Wide mouth Sepsis Facial hypotonia Developmental regression Apnea Autoimmunity Acute monocytic leukemia Muscular hypotonia of the trunk Generalized myoclonic seizures Gliosis Multicystic kidney dysplasia Hypsarrhythmia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Large fontanelles Small nail Generalized-onset seizure Delayed myelination Limb undergrowth Microdontia Acute myeloid leukemia Neuronal loss in central nervous system Psychosis Epileptic encephalopathy Webbed neck Pulmonary arterial hypertension Proteinuria Pancytopenia Vasculitis Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Glomerulonephritis Leukopenia Narrow palpebral fissure Lymphoma Autoimmune neutropenia Sensory impairment Erythema Abnormality of the nervous system Conductive hearing impairment Gastroesophageal reflux Hyporeflexia Vasculitis in the skin Cortical myoclonus Brachydactyly Arthralgia Recurrent fractures Arachnodactyly Joint hyperflexibility Pulmonic stenosis Joint laxity Umbilical hernia Osteoporosis Cryptorchidism Inguinal hernia Arrhythmia Pectus excavatum Hypospadias Dilatation Respiratory distress Ptosis Abnormality of the skeletal system Dysarthria Oligohydramnios Abnormal intestine morphology Erythroid dysplasia Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Erythroderma Lymphadenopathy Otitis media Dry skin Postnatal growth retardation Glaucoma Diarrhea Blindness Intrauterine growth retardation Abnormality of the dentition Recurrent otitis media Cognitive impairment Esophagitis Scoliosis Anaphylactic shock Recurrent upper and lower respiratory tract infections Cerebral vasculitis Recurrent fungal infections Recurrent sinopulmonary infections Recurrent lower respiratory tract infections Sinusitis Subarachnoid hemorrhage Recurrent sinusitis Pericarditis Increased antibody level in blood Osteomyelitis Eosinophilia Meningitis Full cheeks Congenital diaphragmatic hernia Abnormality of extrapyramidal motor function Macrotia Lethargy Retinopathy Feeding difficulties in infancy Mental deterioration Arthritis Difficulty walking High forehead Malabsorption Acidosis Reduced visual acuity Gait ataxia Weight loss Dementia Depressivity Congenital cataract Lower limb muscle weakness Intellectual disability, severe Hematuria Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Metabolic acidosis Hepatic steatosis Nephropathy Smooth philtrum Joint hypermobility Long face Abnormality of skin pigmentation Retinal degeneration Paresthesia Unsteady gait Confusion Renal insufficiency Hydrocephalus Bilateral sensorineural hearing impairment Delayed cranial suture closure Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Prematurely aged appearance Progressive sensorineural hearing impairment Emphysema Ileus Epiphyseal dysplasia Aortic aneurysm Shock Cutis laxa Wormian bones Abnormality of the face Bladder diverticulum Arterial stenosis Respiratory insufficiency Muscle weakness Tremor Visual impairment Feeding difficulties Low-set ears Cataract Muscular hypotonia Nystagmus Ascending tubular aorta aneurysm Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Chronic myelomonocytic leukemia



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