Lymphoma, and Interphalangeal joint contracture of finger

Diseases related with Lymphoma and Interphalangeal joint contracture of finger

In the following list you will find some of the most common rare diseases related to Lymphoma and Interphalangeal joint contracture of finger that can help you solving undiagnosed cases.


Top matches:

Low match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Low match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE


Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

Low match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Low match ACTIVATED PI3K-DELTA SYNDROME


Activated PI3K-delta syndrome is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

ACTIVATED PI3K-DELTA SYNDROME Is also known as activated pi3k-delta syndrome|senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|apds|p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency|pasli

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections
  • Respiratory tract infection


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTIVATED PI3K-DELTA SYNDROME

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 ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Low match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Top 5 symptoms//phenotypes associated to Lymphoma and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Acute lymphoblastic leukemia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Lymphoma and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Anemia Scoliosis Umbilical hernia Chronic myelogenous leukemia Hearing impairment Generalized hypotonia Depressed nasal bridge Oral cleft Cryptorchidism Cleft lip Seizures

Rare Symptoms - Less than 30% cases


Dystonia Dilatation Bronchiectasis Midface retrusion Ventriculomegaly Abnormality of the skeletal system Motor delay Respiratory tract infection Sensorineural hearing impairment Failure to thrive Micropenis Microcephaly Prominent fingertip pads Thin nail Thoracolumbar kyphosis Bruising susceptibility Inverted nipples Limited elbow extension Growth delay Microtia Weight loss Recurrent ear infections Recurrent infections Immunodeficiency Hypoplasia of the thymus Decreased antibody level in blood Aplasia/Hypoplasia of the skin Hypospadias Non-Hodgkin lymphoma Acute myeloid leukemia Myelodysplasia Dysuria Conductive hearing impairment Myeloid leukemia Recurrent urinary tract infections Osteoarthritis Arthralgia Malar flattening Slurred speech Depressed nasal tip Cleft upper lip Recurrent respiratory infections Back pain Neuroblastoma Dysarthria Strabismus Pachygyria Broad forehead Mandibular prognathia Hypertrichosis Inguinal hernia Fine hair Overgrowth Long philtrum Camptodactyly Global developmental delay Delayed speech and language development Pain Abnormal facial shape Muscular hypotonia Retrognathia Hernia Macrocephaly Pointed chin Sparse hair Epicanthus Abnormality of the pinna Spasticity Hypertelorism Hoarse voice Lacrimation abnormality Inflammatory abnormality of the eye Anterior hypopituitarism Slow-growing hair Entropion Bladder diverticulum Sparse pubic hair Duplicated collecting system Central diabetes insipidus Selective tooth agenesis Urethral stenosis Aplasia/Hypoplasia of the nipples Megacystis Abnormality of the nasopharynx Splenomegaly Skeletal muscle atrophy Peripheral neuropathy Cognitive impairment Muscle weakness Nystagmus Ataxia Recurrent sinopulmonary infections Cellulitis Micrognathia Lymphadenopathy Absence of Stensen duct Nail pits Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Urethral atresia Dacryocystitis Ureterocele Abnormality of the middle ear Sparse axillary hair Split foot Generalized hypopigmentation Dry skin Sparse scalp hair Microdontia Renal agenesis Growth hormone deficiency Ectodermal dysplasia Vesicoureteral reflux Nevus Hypodontia Hypoplasia of the maxilla Thick eyebrow Carious teeth Split hand Toe syndactyly Nail dystrophy Finger syndactyly Blepharophimosis Hydronephrosis Photophobia Hyperkeratosis Polydactyly Syndactyly Cleft palate Choanal atresia Renal dysplasia Corneal erosion Hydroureter Fair hair Taurodontia Blue irides Gait disturbance Xerostomia Blepharitis External ear malformation Ectrodactyly Hypoplastic nipples Aplasia/Hypoplasia of the thumb Keratitis Hypoplasia of dental enamel Hypoplastic toenails Proximal placement of thumb Reduced number of teeth Coarse hair Renal hypoplasia/aplasia Cutaneous syndactyly Sparse eyelashes Abnormality of dental enamel Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Tremor Accelerated skeletal maturation Cerebellar atrophy Cellular immunodeficiency Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Abnormality of chromosome stability Chronic lymphatic leukemia Progressive spinal muscular atrophy Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Mucosal telangiectasiae Immunoglobulin IgG2 deficiency Hypopigmentation of hair Refractory anemia Periodontitis Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Hyperextensible skin Joint hypermobility Irritability Fever Impaired platelet aggregation Decreased/absent ankle reflexes Acute monocytic leukemia Acute leukemia Prolonged bleeding time Purpura Epistaxis Abnormal bleeding Neutropenia Thrombocytopenia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Hepatocellular carcinoma Hodgkin lymphoma Pneumonia Abnormality of eye movement Type II diabetes mellitus Apraxia Hepatitis Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Delayed puberty Intention tremor Neurological speech impairment Distal muscle weakness Abnormality of the liver Anxiety Chronic myelomonocytic leukemia Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Myoclonus Pancytopenia Choreoathetosis IgA deficiency Polycystic ovaries Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Breast carcinoma Telangiectasia Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Limb ataxia Carcinoma Trident hand Mastocytosis Brachycephaly Joint stiffness Postnatal growth retardation Feeding difficulties in infancy Neonatal hypotonia Thin upper lip vermilion Coarse facial features Joint laxity Cerebral cortical atrophy Hyperactivity Posteriorly rotated ears Coloboma Agenesis of corpus callosum Abnormal heart morphology Patent ductus arteriosus Abnormality of metabolism/homeostasis Microphthalmia Short nose Intellectual disability, severe Atrial septal defect Edema Short neck Wide mouth Macrotia Platyspondyly Short palpebral fissure Bilateral ptosis Redundant skin Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Spontaneous abortion Low anterior hairline Aortic valve stenosis Postnatal microcephaly Heterotopia Low posterior hairline Arthrogryposis multiplex congenita High myopia Webbed neck Bifid uvula Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Iris coloboma Wide nose Hyperhidrosis Smooth philtrum Anteverted nares Talipes Ectropion Joint contracture of the hand Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Secondary amenorrhea Calcaneovalgus deformity Absent septum pellucidum Short ribs Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Flat occiput Radial deviation of finger Large hands Coxa valga Poor fine motor coordination Lymphedema Myopia Abnormally low-pitched voice Wide nasal bridge Round face Feeding difficulties High palate Low-set ears Ptosis Nail dysplasia Amenorrhea Dysharmonic bone age Flared humeral metaphysis Limited knee extension Tall stature Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Broad thumb Galactorrhea Teratoma Trigonocephaly Overfolded helix Downslanted palpebral fissures Disproportionate short stature Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Kyphosis Tibial bowing Behavioral abnormality Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Upper airway obstruction Central apnea Infantile muscular hypotonia Cervical cord compression Eosinophilia Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Cutis laxa Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hypopnea Abnormality of femur morphology Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Talipes equinovarus Hypertonia Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Short long bone Sleep apnea Chorioretinal coloboma Small thenar eminence Delayed skeletal maturation Hydrocephalus Frontal bossing Brachydactyly Hyperreflexia Hypertension Pes cavus Small posterior fossa Duplication of phalanx of hallux Unilateral ptosis Facial edema Severe short stature U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Prominent forehead Esophageal atresia Protruding tongue Long palpebral fissure Abnormality of the sternum Tracheoesophageal fistula Obesity Gastroesophageal reflux Acanthosis nigricans Epidermal acanthosis Paraparesis Clonus Short toe Rhizomelia Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Clinodactyly Tetraparesis Lumbar hyperlordosis Skeletal dysplasia Otitis media Sleep disturbance Confusion Micromelia Joint hyperflexibility Scarring Hyperlordosis Apnea Abnormality of the nervous system Rigidity Gingival recession



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Pancreatitis, related diseases and genetic alterations Intrauterine growth retardation and Triangular face, related diseases and genetic alterations Lymphoma and Abnormality of the cerebral white matter, related diseases and genetic alterations Peripheral neuropathy and Absent speech, related diseases and genetic alterations Hypertelorism and Colitis, related diseases and genetic alterations Sensorineural hearing impairment and Gliosis, related diseases and genetic alterations Macrocephaly and Short phalanx of finger, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more