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.
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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
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
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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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
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
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
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
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
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
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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