Anemia, and Short metacarpal

Diseases related with Anemia and Short metacarpal

In the following list you will find some of the most common rare diseases related to Anemia and Short metacarpal 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 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

Low match KINDLER SYNDROME


Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

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Other less relevant matches:

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

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 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 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

Top 5 symptoms//phenotypes associated to Anemia and Short metacarpal

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Short thumb Brachydactyly Micrognathia Growth delay Abnormal vertebral morphology Low-set ears Short 1st metacarpal Abnormality of the skeletal system Seizures Downslanted palpebral fissures Conductive hearing impairment Ventricular septal defect

Rare Symptoms - Less than 30% cases


Retrognathia Abnormality of cardiovascular system morphology Hearing impairment Wide nasal bridge Rib fusion Delayed skeletal maturation Severe short stature Limb undergrowth Dry skin Abnormal cardiac septum morphology Skeletal dysplasia Abnormality of skin pigmentation Underdeveloped nasal alae Prominent nose Overbite Hypertelorism Atrial septal defect Short nose Prominent nasal bridge Thrombocytopenia Flexion contracture Sensorineural hearing impairment Microcephaly Myopia Vesicoureteral reflux Hallux valgus Clinodactyly of the 5th finger Clinodactyly Poikiloderma Ulnar bowing Intellectual disability, mild Proptosis Absent thumb Hydronephrosis Agenesis of corpus callosum Forearm undergrowth Patent ductus arteriosus Pain Frontal bossing Flat face Confusion Pulmonic stenosis Wide mouth Short palm Wide nose Nevus flammeus Small hand Hemivertebrae Long palpebral fissure Vertebral fusion External genital hypoplasia Mesomelia Delayed cranial suture closure Double outlet right ventricle Radial deviation of finger Disproportionate short-limb short stature Wide anterior fontanel Hypodontia Gingival overgrowth Long eyelashes Dental crowding Increased number of teeth Ambiguous genitalia Nail dysplasia Dental malocclusion Macroglossia Broad thumb Long philtrum Thin upper lip vermilion Abnormality of female external genitalia High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Distal symphalangism Pseudoepiphyses of the metacarpals Pseudoepiphyses Large sella turcica Narrow pelvis bone Shortening of all distal phalanges of the fingers Ivory epiphyses Long clavicles Arterial stenosis Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Hypoplastic scapulae Tracheal stenosis Hypoplastic iliac wing Increased intraocular pressure Radial bowing Severe postnatal growth retardation Projectile vomiting Straight clavicles Hepatosplenomegaly Short neck Umbilical hernia Micropenis Abdominal pain Posteriorly rotated ears Inguinal hernia Pectus excavatum Hernia Midface retrusion Malar flattening Anteverted nares Generalized microdontia Macrocephaly Depressed nasal bridge Cryptorchidism Abnormal facial shape Leukemia Hyperpigmentation of the skin Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Overtubulated long bones Thoracolumbar scoliosis Aplasia/Hypoplasia involving the metacarpal bones Missing ribs Abnormality of the ureter Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rectovaginal fistula Osteosarcoma Choanal stenosis Chromosome breakage Coronal craniosynostosis Shallow orbits Carpal synostosis Aplasia/Hypoplasia of the radius Anterior plagiocephaly Fibular hypoplasia Absent radius Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow nasal bridge Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Oxycephaly Patellar hypoplasia Hypoplasia of the radius Perineal fistula Oligodontia Delayed eruption of teeth Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Bicoronal synostosis Hand oligodactyly Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Failure to thrive in infancy Abnormality of the metacarpal bones Hypoplastic labia majora Thoracic hemivertebrae Cleft palate Strabismus Nystagmus Cervical agenesis Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Dilatation of the cerebral artery Motor delay Broad toe Mesomelic short stature Triangular mouth Renal duplication Clitoral hypoplasia Delayed eruption of permanent teeth Normocytic anemia Short middle phalanx of the 5th finger Vaginal atresia Bifid tongue High palate Epicanthus Spina bifida occulta Facial asymmetry Narrow face Large fontanelles Renal dysplasia Bowing of the long bones Pancytopenia Hypotelorism Lymphoma Bifid uvula Polymicrogyria Anal atresia Malabsorption Optic atrophy Broad forehead Skin rash Craniosynostosis Abnormality of the kidney Low-set, posteriorly rotated ears Narrow mouth Brachycephaly Prominent forehead Abnormal heart morphology Behavioral abnormality Hydrocephalus Severe intrauterine growth retardation Hypoplasia of dental enamel Proportionate short stature Turricephaly Amniotic constriction ring Short 4th metacarpal Corneal erosion Abnormal toenail morphology Esophagitis Periodontitis Gingivitis Atypical scarring of skin Abnormality of the skull Gingival bleeding Short 5th metacarpal Cutaneous finger syndactyly Fragile skin Aplasia/Hypoplasia of the skin Skin vesicle Colitis Atrophic scars Milia Squamous cell carcinoma Inflammation of the large intestine Ridged nail Ankyloglossia Abnormality of the hand Symblepharon Congestive heart failure Respiratory insufficiency Fever Failure to thrive Neoplasm of the urethra Telangiectases in sun-exposed and nonexposed skin Acral blistering Diffuse skin atrophy Overjet Severe photosensitivity Premature loss of primary teeth Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Laryngeal stenosis Abnormality of the anus Eczematoid dermatitis Esophageal stricture Cheilitis Ectropion Dermal atrophy Alopecia Arnold-Chiari malformation Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Fused cervical vertebrae Duodenal atresia Absent septum pellucidum Patent foramen ovale Optic nerve hypoplasia Horseshoe kidney Syndactyly Bone marrow hypocellularity Renal hypoplasia Growth hormone deficiency Triangular face Neutropenia Astigmatism Pallor Hypothyroidism Microphthalmia Dysphagia Hyperkeratosis Recurrent skin infections Hypopigmentation of the skin Palmoplantar hyperkeratosis Conjunctivitis Abnormality of dental enamel Telangiectasia Inflammatory abnormality of the skin Cutaneous photosensitivity Abnormality of the ribs Eczema Abnormal blistering of the skin Palmoplantar keratoderma Carcinoma Ichthyosis Carious teeth Nail dystrophy Pruritus Papule Finger syndactyly Corneal opacity Camptodactyly of finger Scarring Erythema Kyphosis Pneumonia Multiple cafe-au-lait spots Full cheeks Sparse scalp hair Fine hair Epidermal acanthosis Type II diabetes mellitus Sloping forehead Microdontia Hip dysplasia Convex nasal ridge Delayed myelination Short distal phalanx of finger Abnormality of the metaphysis Micromelia Joint hyperflexibility Narrow chest Hypermetropia Microtia Stroke Attention deficit hyperactivity disorder Postnatal growth retardation Joint laxity Hemiparesis Abnormality of epiphysis morphology Upslanted palpebral fissure Abnormality of dental morphology Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Truncal obesity Aplasia/Hypoplasia of the eyebrow High pitched voice Flared metaphysis Short middle phalanx of finger Cone-shaped epiphysis Cafe-au-lait spot Precocious puberty Nasal speech Reduced number of teeth Laryngomalacia Hypopigmented skin patches Acanthosis nigricans Narrow palpebral fissure Coxa vara Coxa valga High forehead Recurrent respiratory infections Glaucoma Sarcoma Broad neck Exostoses Ankylosis Alopecia of scalp Basal ganglia calcification Hamartoma Spinal rigidity Metaphyseal widening Back pain Widely spaced teeth Short hallux Finger clinodactyly Aspiration Subcutaneous nodule Myocardial infarction Limitation of joint mobility Hypotrichosis Respiratory tract infection Difficulty walking Respiratory failure Myositis Broad femoral neck Hypospadias Abnormality of the first metatarsal bone Obesity Dilatation Headache Abnormality of the dentition Vomiting Hypoplasia of the corpus callosum Ventriculomegaly Generalized hypotonia Aplasia/Hypoplasia of the phalanges of the hallux Progressive cervical vertebral spine fusion Stiff neck Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Short metatarsal



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