Anemia, and Syndactyly

Diseases related with Anemia and Syndactyly

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


Top matches:

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 DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

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Other less relevant matches:

Low match ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


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

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 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

Top 5 symptoms//phenotypes associated to Anemia and Syndactyly

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases
Hearing impairment 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 Syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Splenomegaly

Rare Symptoms - Less than 30% cases


Dilated cardiomyopathy Nail dystrophy Carious teeth Webbed neck Narrow mouth Respiratory failure Abnormal blistering of the skin Milia Atrophic scars Ankyloglossia Squamous cell carcinoma of the skin Osteoporosis Nail dysplasia Dysphagia Esophageal stricture Mitten deformity Respiratory insufficiency Visual loss Osteopenia Scarring Brachycephaly Cryptorchidism Sensorineural hearing impairment Epicanthus Thrombocytopenia Bone marrow hypocellularity Bruising susceptibility Pancytopenia Tapered finger Alopecia Hypotelorism Small nail Anemia of inadequate production Erythroid hyperplasia Macrocytic anemia Pallor Hepatosplenomegaly Edema Hip dysplasia Poikilocytosis Jaundice Reticulocytosis Anisocytosis Hepatomegaly Abnormal heart morphology Erysipelas Abnormality of cardiovascular system morphology Microphthalmia Macronodular cirrhosis Strabismus Brachydactyly Abnormal neutrophil count Intellectual disability Global developmental delay Down-sloping shoulders Myeloproliferative disorder Microcephaly Granulocytopenia Pectus excavatum Abnormality of the optic nerve Chronic otitis media Hypochromic anemia Long toe Lymphedema Moderate global developmental delay Leukopenia Intracranial hemorrhage Myelodysplasia Leukocytosis Sparse lateral eyebrow Prolonged bleeding time Cellulitis Myeloid leukemia Acute myeloid leukemia Acute leukemia Hypercoagulability Verrucae Delayed skeletal maturation Short thumb Small for gestational age Hypodontia Micrognathia Low-set ears High palate Wide nasal bridge High myopia Myopia Dental malocclusion Anteverted nares Low posterior hairline Smooth philtrum Atrial septal defect Craniosynostosis Wide mouth Long philtrum Developmental regression Upslanted palpebral fissure Inguinal hernia Hypertelorism Mitral regurgitation Abnormality of skin pigmentation Absent thumb Neutropenia Renal agenesis Clinodactyly Cafe-au-lait spot Hypergonadotropic hypogonadism Horseshoe kidney Ectopic kidney Absent radius Preauricular skin tag Reticulocytopenia Hypoparathyroidism Duplicated collecting system Microcytic anemia Complete duplication of thumb phalanx Chromosomal breakage induced by crosslinking agents Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Esophageal stenosis Migraine Aplasia cutis congenita Dyspnea Hypotrichosis Sepsis Dehydration Hoarse voice Recurrent skin infections Pyloric stenosis Onycholysis Failure to thrive Skin erosion Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Junctional split Cataract Feeding difficulties Macrocytic dyserythropoietic anemia Cardiomyopathy Scoliosis Hyperpigmentation of the skin Ptosis Abnormality of the skeletal system Short phalanx of finger Cutaneous syndactyly Increased total bilirubin Congenital hypoplastic anemia Hypertension Reduced activity of N-acetylglucosaminyltransferase II Ventricular septal defect Hydrops fetalis Abnormal vertebral morphology Cholelithiasis Prolonged neonatal jaundice Increased serum ferritin Mild postnatal growth retardation Endopolyploidy on chromosome studies of bone marrow Flexion contracture Constipation Hematuria Immunodeficiency Absent fingernail Refractory anemia Loss of eyelashes Spontaneous esophageal perforation Fever Fatigue Cerebellar atrophy Recurrent infections Absent toenail Recurrent respiratory infections Weight loss Neurological speech impairment Nausea and vomiting Vertigo Lymphadenopathy Cirrhosis Hemolytic anemia Abnormality of the anus Scarring alopecia of scalp Carcinoma Dermal atrophy Pruritus Toe syndactyly Delayed puberty Progressive visual loss Joint contracture of the hand Conjunctivitis Neoplasm of the skin Hypoalbuminemia Corneal scarring Ectropion Squamous cell carcinoma Malnutrition Skin vesicle Fragile skin Blepharitis Atypical scarring of skin Corneal erosion Short 2nd finger



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Brachycephaly, related diseases and genetic alterations Ventricular septal defect and Intestinal malrotation, related diseases and genetic alterations Melanoma and Elevated serum creatine phosphokinase, related diseases and genetic alterations Ptosis and Skin rash, related diseases and genetic alterations Scoliosis and Sloping forehead, related diseases and genetic alterations Short stature and Visual loss, related diseases and genetic alterations

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