Anemia, and Arthrogryposis multiplex congenita

Diseases related with Anemia and Arthrogryposis multiplex congenita

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


Top matches:

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Medium match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

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Other less relevant matches:

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Medium match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Growth delay Muscular hypotonia Diarrhea Generalized hypotonia Hearing impairment Ventriculomegaly Feeding difficulties Distal arthrogryposis Cerebral atrophy Thrombocytopenia Recurrent infections Abnormality of the liver Short neck Short stature Jaundice Abnormal bleeding Abnormality of the pinna Cardiomyopathy Renal insufficiency Elevated hepatic transaminase Areflexia Hepatosplenomegaly Intrauterine growth retardation Malabsorption Splenomegaly Neonatal hypotonia Congestive heart failure Cholestasis Hip dysplasia Skeletal muscle atrophy Fever Immunodeficiency Hypertension Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Hypertonia Gingival overgrowth Hyperreflexia Dysphagia Anteverted nares Respiratory distress Steatorrhea Hyperglycemia Portal hypertension Adducted thumb Chronic diarrhea Generalized myoclonic seizures Abnormality of the renal tubule Reduced tendon reflexes Renal tubular dysfunction Constipation Low-set, posteriorly rotated ears Postural instability Weight loss Narrow mouth Apnea Abnormal facial shape Epicanthus Abnormality of retinal pigmentation Depressed nasal bridge Coma Abnormal T cell morphology Neurodevelopmental delay Retrognathia Decreased antibody level in blood Polyhydramnios Hyperkeratosis Hypertrophic cardiomyopathy Proximal tubulopathy Decreased fetal movement Proteinuria Vomiting Generalized tonic-clonic seizures Cardiorespiratory arrest Polyneuropathy Dehydration Abnormal heart morphology Abnormality of immune system physiology EEG abnormality Abnormality of the skeletal system Pancytopenia Micrognathia Hypertelorism Cerebellar atrophy Strabismus Talipes equinovarus Muscle weakness Delayed skeletal maturation Hypoplasia of the corpus callosum Hepatic steatosis Lactic acidosis Cerebral calcification Lethargy Acidosis Myoclonus Flexion contracture Encephalopathy Myopathy Peripheral neuropathy Increased serum lactate Depressed nasal ridge Motor delay Heart block Purpura Bilateral ptosis Abnormality of the face Cardiomegaly Macrotia Hyperhidrosis Arrhythmia Delayed myelination Hyporeflexia Breech presentation Chronic kidney disease Diabetes mellitus Lymphopenia Increased CSF lactate Hyperkalemia Developmental regression Ichthyosis Hyponatremia Visual impairment Cognitive impairment Sensorineural hearing impairment Ptosis Low-set ears Hirsutism Hallucinations Cerebral visual impairment Pancreatitis Clonus Cardiac arrest Generalized hirsutism Truncal ataxia EMG abnormality Macular degeneration Muscle cramps Hypogonadotrophic hypogonadism Nephropathy Type I diabetes mellitus Exercise intolerance Status epilepticus Decreased body weight Anorexia Atrial fibrillation Memory impairment Migraine Type II diabetes mellitus Psychosis Nephrotic syndrome Bilateral sensorineural hearing impairment Sensory impairment Generalized-onset seizure Ventricular hypertrophy Specific learning disability Abnormal cerebellum morphology Abnormality of the cardiovascular system Pigmentary retinopathy Hemiparesis Amenorrhea Hypertrichosis Sudden cardiac death Involuntary movements Pulmonary arterial hypertension Left ventricular hypertrophy Polymicrogyria Erythema Nausea Ataxia Depressivity Headache Kyphosis Dystonia Abnormality of the dentition Blindness Fatigue Gait disturbance Tremor Optic atrophy Dysarthria Cataract Pain Nystagmus Pulmonary lymphoma Elevated serum creatine phosphokinase Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Visual loss Cerebellar hypoplasia Peripheral axonal neuropathy Attention deficit hyperactivity disorder Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Nausea and vomiting Carious teeth Congenital cataract Ophthalmoplegia Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Nyctalopia Rod-cone dystrophy Hypothyroidism Dementia Osteoporosis Hypogonadism Abdominal pain Gait ataxia Autism Dyspnea Protruding ear Gastroesophageal reflux Photophobia Myalgia Anxiety Mental deterioration Feeding difficulties in infancy External ophthalmoplegia Thyroiditis Ragged-red muscle fibers Leber optic atrophy Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Persistence of primary teeth Abnormal mitochondrial morphology Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Hemianopia Ileus Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Paronychia Edema of the dorsum of hands Anterior hypopituitarism Insulin resistance Prolonged partial thromboplastin time Autoimmunity Elevated hemoglobin A1c Abnormality of the pancreatic islet cells Contractures of the joints of the lower limbs Transient neonatal diabetes mellitus Hypovolemia Abnormality of the upper urinary tract Autoimmune antibody positivity Ketonuria Maternal diabetes Prominent metopic ridge Glycosuria Apraxia Cochlear malformation Downturned corners of mouth Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Stroke-like episode Gait imbalance Ischemic stroke Ophthalmoparesis Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Abnormality of mitochondrial metabolism Visual field defect Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Dysphasia Prolonged QT interval Reduced consciousness/confusion Vitiligo Cerebral ischemia Wolff-Parkinson-White syndrome Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Neonatal hypoglycemia Multiple lipomas Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Pulmonary embolism Primary adrenal insufficiency Abnormal bone ossification Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Abnormally ossified vertebrae Abnormal form of the vertebral bodies Neonatal short-limb short stature Focal-onset seizure Type II transferrin isoform profile Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Hyperbilirubinemia Hypohidrosis Postaxial polydactyly High palate Cirrhosis Muscular hypotonia of the trunk Aggressive behavior Polydactyly Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Inverted nipples Protruding tongue Thick vermilion border Flat face Behavioral abnormality Spasticity Edema Abnormality of globe location Interphalangeal joint contracture of finger Akinesia Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Knee flexion contracture Hydrops fetalis Thickened skin Open mouth Progressive neurologic deterioration Oligohydramnios Short nose Underdeveloped nasal alae Premature birth Triangular face Ascites Metabolic acidosis Everted lower lip vermilion High, narrow palate Pulmonary hypoplasia Hepatic failure Abnormality of eye movement Microtia Camptodactyly Proptosis Increased urinary sedoheptulose Neonatal asphyxia Multiple joint contractures Increased antibody level in blood Renal cyst Abnormality of the foot Respiratory failure Absent speech Abnormality of the Leydig cells Clubbing of toes Erythema nodosum Clubbing of fingers Episodic fever Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Right bundle branch block Renal hypoplasia Hyperostosis Lipodystrophy Subcutaneous nodule Thick lower lip vermilion Prominent nose Macroglossia Lymphadenopathy Arachnodactyly Skin rash Abnormal pyramidal sign Joint stiffness Arthralgia Intellectual disability, mild Epileptic encephalopathy Pachygyria Abnormal CNS myelination Hepatitis Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Diastasis recti Severe postnatal growth retardation Shallow orbits Arnold-Chiari malformation Large fontanelles Hypotelorism Short foot Renal dysplasia Prominent nasal bridge High forehead Inguinal hernia Macrocephaly Microvesicular hepatic steatosis Tongue fasciculations Hypoventilation Renal tubular acidosis Failure to thrive in infancy CNS hypomyelination Severe muscular hypotonia Fasciculations Decreased liver function Neonatal respiratory distress Thoracic hypoplasia Congenital hypoplastic anemia Disproportionate short-limb short stature Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Genu varum Abnormality of pelvic girdle bone morphology Sacral dimple Metaphyseal dysplasia Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Aganglionic megacolon Bowing of the long bones Abnormality of the metaphysis High hypermetropia Macrocytic anemia Blue sclerae Aplasia/Hypoplasia affecting the eye Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia of the abdominal wall musculature Hodgkin lymphoma Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Fine hair Lumbar hyperlordosis Abnormality of coagulation Generalized hyperkeratosis Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Everted upper lip vermilion Mild fetal ventriculomegaly Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Congenital ichthyosiform erythroderma Hypokinesia Petechiae Opisthotonus Enlarged fetal cisterna magna Scoliosis Abnormality of the ribs Leukemia Convex nasal ridge Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Neutropenia Small hand Short palm Joint hypermobility Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Pectus carinatum Neoplasm Sparse hair Hyperlordosis Joint laxity Carcinoma Skeletal dysplasia Brachycephaly Prominent forehead Severe short stature Pneumonia Alopecia Dilatation Myopia Wide nasal bridge Graves disease



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Abdominal pain, related diseases and genetic alterations Brachydactyly and Short foot, related diseases and genetic alterations Skeletal muscle atrophy and Hyperhidrosis, related diseases and genetic alterations Nystagmus and Inflammation of the large intestine, related diseases and genetic alterations Hypertelorism and Thin upper lip vermilion, related diseases and genetic alterations

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