Anemia, and Brachydactyly

Diseases related with Anemia and Brachydactyly

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


Top matches:

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

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 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

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Other less relevant matches:

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

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 ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Top 5 symptoms//phenotypes associated to Anemia and Brachydactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape 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 Brachydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Hemolytic anemia Hepatosplenomegaly Splenomegaly Seizures Proptosis Ataxia Hearing impairment High palate Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Hyperbilirubinemia Paralysis Ventricular septal defect Hypertelorism Patent ductus arteriosus Short neck Purpura Progressive sensorineural hearing impairment Fatigue Generalized hypotonia Migraine Recurrent respiratory infections Dyspnea Jaundice Respiratory tract infection Myalgia Intrauterine growth retardation Failure to thrive Cryptorchidism Talipes equinovarus Macrocephaly Neoplasm Vasculitis Microcephaly Narrow palpebral fissure Frontal bossing Cataract Abnormal cardiac septum morphology Recurrent infections Disproportionate short stature Short finger Flared metaphysis Aortic valve stenosis Rocker bottom foot Elbow flexion contracture Metaphyseal widening Tetraplegia Platyspondyly Lumbar hyperlordosis Hypotrichosis Metaphyseal irregularity Short toe Hypodontia Hypotelorism Rhizomelia Mandibular prognathia Nausea and vomiting Delayed closure of the anterior fontanelle Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Abnormal joint morphology Meningitis Arthropathy Amyloidosis Uveitis Overgrowth Juvenile rheumatoid arthritis Premature birth Abnormal thrombocyte morphology Elevated C-reactive protein level Hyperlordosis Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Flexion contracture Lymphadenopathy Thoracic kyphosis Respiratory insufficiency Intellectual disability, mild Kyphosis Midface retrusion Joint dislocation Kyphoscoliosis Metaphyseal dysplasia Scoliosis Ovoid vertebral bodies Camptodactyly Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Vomiting Diarrhea Long philtrum Thrombocytopenia Hypothyroidism Hepatic failure Recurrent skin infections Pulmonary hypoplasia Ascites Decreased fetal movement Cholestasis Large fontanelles Lymphedema Decreased liver function Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Glomerulonephritis Leukopenia Hypoplastic ilia Abnormality of the skeletal system Small epiphyses Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Shallow acetabular fossae J-shaped sella turcica Atlantoaxial dislocation Broad phalanx Cervical cord compression Cervical subluxation Hypoplastic iliac body Skin rash Cognitive impairment Dysarthria Immunodeficiency Lymphopenia Hyporeflexia Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Erythema Neutropenia Asthma Sensory impairment Lymphoma Eczema Inflammatory abnormality of the skin Bronchiectasis Papule Double outlet right ventricle Arthritis Hemiplegia Myopathy Renal insufficiency Encephalopathy Visual loss Rod-cone dystrophy Mental deterioration Muscular dystrophy Retinal dystrophy Muscle cramps Tetraparesis Exercise intolerance Spastic tetraparesis Emotional lability Pain Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Nystagmus Delayed speech and language development Anisopoikilocytosis Hyperreflexia Prominent eyelashes Low-set ears Prominent nasal bridge Synophrys Infertility Bilateral sensorineural hearing impairment Azoospermia Male infertility Anemia of inadequate production Congenital hypoplastic anemia Abnormal spermatogenesis Reduced sperm motility Moderate hearing impairment Depressed nasal bridge Spotty hypopigmentation Anteverted nares Severe short stature High forehead Osteopenia Telecanthus Sparse hair Small for gestational age Talipes Short distal phalanx of finger Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Spasticity Hydrocephalus EEG abnormality Interrupted aortic arch Easy fatigability Clubbing Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Right ventricular failure Sinusitis Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Visual impairment Fever Edema Blindness Skeletal dysplasia Arthralgia Increased body weight Hemiparesis Hypertonia Hypoglycorrhachia Absent speech Macrotia Spastic paraplegia Paraplegia Inability to walk Delayed myelination Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Muscle weakness Ventricular hypertrophy Respiratory distress Congestive heart failure Abnormality of cardiovascular system morphology Clinodactyly Arrhythmia Abnormal heart morphology Clinodactyly of the 5th finger Broad forehead Dolichocephaly Pulmonic stenosis Thin vermilion border Cyanosis Tetralogy of Fallot Abnormal isoelectric focusing of serum transferrin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Coarse facial features, related diseases and genetic alterations Macrocephaly and Recurrent fractures, related diseases and genetic alterations Skeletal muscle atrophy and Short distal phalanx of finger, related diseases and genetic alterations Peripheral neuropathy and Edema, related diseases and genetic alterations Micrognathia and Microcornea, related diseases and genetic alterations

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