Anemia, and Autism

Diseases related with Anemia and Autism

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


Top matches:

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Medium match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Mendelian

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

Learn more

Other less relevant matches:

Medium match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Anemia and Autism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypertelorism Abnormal facial shape Downturned corners of mouth Failure to thrive Hypertonia Self-injurious behavior Anteverted nares Cryptorchidism Growth delay Wide nasal bridge Myopia Hearing impairment Brachycephaly Micrognathia Neoplasm Ptosis Generalized hypotonia Thick lower lip vermilion Depressivity Synophrys Headache Osteoporosis Hypertension Telecanthus Macrocephaly Hypoglycemia Abnormal heart morphology Scoliosis Abnormality of the skeletal system Hydrocephalus Intrauterine growth retardation Cataract Prominent nasal bridge Single transverse palmar crease Hyperactivity Downslanted palpebral fissures Cleft palate Delayed speech and language development Aggressive behavior Conductive hearing impairment Strabismus Nystagmus Sensorineural hearing impairment Osteopenia Epicanthus Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Optic atrophy Short nose Atrial septal defect Abnormality of the urinary system Ventricular septal defect Gastroesophageal reflux Esophagitis Syndactyly Otitis media Incoordination Hypothyroidism Flexion contracture Agenesis of corpus callosum Brachydactyly Tetralogy of Fallot Abnormality of the dentition Blindness Abnormality of the genital system Clinodactyly of the 5th finger Depressed nasal ridge Mitral valve prolapse Genu valgum Talipes equinovarus Cleft upper lip Delayed puberty Pallor Postnatal growth retardation Retrognathia Poor coordination Narrow mouth Midface retrusion Hypertrophic cardiomyopathy Muscular hypotonia Hyperreflexia Status epilepticus Hypsarrhythmia Epileptic encephalopathy Generalized myoclonic seizures Neutropenia Astigmatism Vomiting Abnormality of cardiovascular system morphology Thin upper lip vermilion Visual impairment Cardiomyopathy Long eyelashes Bifid uvula Highly arched eyebrow Thick eyebrow Abnormality of the pinna Depressed nasal bridge Motor delay High palate Low-set ears Hypoplasia of the corpus callosum Obsessive-compulsive behavior Broad forehead Cerebral calcification Aganglionic megacolon Recurrent urinary tract infections Spontaneous abortion Peripheral neuropathy Coarctation of aorta Attention deficit hyperactivity disorder Volvulus Intellectual disability, severe Pulmonic stenosis Feeding difficulties in infancy Pruritus Glaucoma Thrombocytopenia Feeding difficulties Cognitive impairment Fetal distress Night sweats Carcinoid tumor Anomalous pulmonary venous return Rhabdomyosarcoma Nasolacrimal duct obstruction Paraganglioma Single ventricle Glioma Soft tissue sarcoma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Pseudoarthrosis Epigastric pain Schwannoma Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Complete atrioventricular canal defect Hypophosphatemia Pheochromocytoma Paralysis Abnormality of the cardiovascular system Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Malabsorption Leukemia Kyphoscoliosis Bone pain Weight loss Visual loss Dilatation Respiratory insufficiency Dysarthria Pain Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Cafe-au-lait spot Sensorimotor neuropathy Parathyroid adenoma Multiple cafe-au-lait spots Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Renal cell carcinoma Osteomalacia Freckling Spina bifida Tibial bowing Neurofibromas Pulmonary fibrosis Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Optic nerve glioma Toe syndactyly Subcutaneous neurofibromas 2-3 toe syndactyly Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney Short middle phalanx of finger Aspiration pneumonia Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Pyloric stenosis Short metatarsal Deep philtrum Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Torticollis Hiatus hernia Hypoplastic labia majora Increased body weight Curly eyelashes Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Absent hand Abnormality of the gastrointestinal tract Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Elbow flexion contracture Low anterior hairline Acute promyelocytic leukemia Clinodactyly Respiratory tract infection Camptodactyly Proteinuria Mandibular prognathia Proptosis Hyperhidrosis Prominent forehead Severe short stature Pneumonia Delayed skeletal maturation Inguinal hernia Hypospadias Small for gestational age Hernia Long philtrum Short neck Fever Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Craniosynostosis Hip dislocation Aspiration Triangular face Choanal atresia Hypertrichosis Low posterior hairline Renal hypoplasia Blue sclerae High myopia Congenital diaphragmatic hernia Microdontia Webbed neck Vesicoureteral reflux Sepsis Renal cyst Basilar impression Microcornea Delayed eruption of teeth Sleep disturbance Tapered finger Small hand High, narrow palate Hirsutism Pulmonary hypoplasia Thin vermilion border Vertigo Micromelia Motor tics Babinski sign Absent axillary hair Short philtrum Turricephaly Aniridia Nephroblastoma Sparse eyebrow Cutaneous syndactyly Wormian bones Underdeveloped nasal alae Prominent nose Broad nasal tip High forehead Depressed nasal tip Micropenis Obesity Persistence of hemoglobin F Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Acute leukemia Tracheomalacia Macrocytic anemia Triphalangeal thumb Exostoses Decreased skull ossification Melanoma Nausea and vomiting Dysphasia Encephalitis Tented upper lip vermilion Abnormality of the face Hypoplasia of penis Ambiguous genitalia Macroglossia Everted lower lip vermilion Flat face Abnormality of movement Spastic paraplegia Sparse lateral eyebrow Joint stiffness Abnormality of the kidney Hydronephrosis Cerebral cortical atrophy Constipation Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Abnormality of the hand Short thumb Profound global developmental delay Enlarged cisterna magna Hemiparesis Increased serum lactate Premature birth Metabolic acidosis Unsteady gait Abnormality of eye movement Muscular hypotonia of the trunk Acidosis Myoclonus Encephalopathy Delayed ability to walk Leukopenia Cerebral visual impairment Broad-based gait Hypermetropia Generalized tonic-clonic seizures Abnormal cardiac septum morphology Wide mouth Bilateral conductive hearing impairment Increased number of teeth Flat occiput Brittle hair Progressive microcephaly CNS hypomyelination Mitral regurgitation Abnormality of tyrosine metabolism Ventricular hypertrophy Migraine Cleft lip Arrhythmia Patent ductus arteriosus Fatigue Abnormality of arginine metabolism Abnormality of threonine metabolism Low APGAR score Abnormality of glycine metabolism Abnormality of histidine metabolism Abnormality of the coagulation cascade EEG with burst suppression Pyridoxine-responsive sideroblastic anemia Decreased CSF homovanillic acid Hypoargininemia High-pitched cry Hemiclonic seizures Abnormality of the amniotic fluid Moderate global developmental delay Excessive salivation Global brain atrophy Male pseudohermaphroditism Abnormal hemoglobin Posterior polar cataract Thickened skin Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Gynecomastia Abnormal form of the vertebral bodies Bilateral cryptorchidism Sparse scalp hair Bradykinesia Hip dysplasia Nevus Hypoplasia of the maxilla Neurodegeneration Short distal phalanx of finger Distal amyotrophy Narrow chest Congenital cataract Melanocytic nevus Metatarsus adductus Protruding ear Thoracic kyphosis Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Irregular vertebral endplates Anonychia Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Truncal obesity Abnormal pyramidal sign Developmental regression U-Shaped upper lip vermilion Asthma Fair hair Blue irides Self-mutilation Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Psychosis Eczema Delayed myelination Nausea Abnormal posturing Dry skin Abnormality of the cerebral white matter Skin rash Abnormality of the liver Irritability Anxiety Tremor Spasticity Abnormality of the male genitalia Abnormality of fontanelles Generalized hypopigmentation Mood changes Deeply set eye Myopathy Macrotia Gait ataxia Diabetes mellitus Hypogonadism Pes cavus Areflexia Pectus excavatum Microphthalmia Malar flattening Kyphosis Gait disturbance Folate deficiency Skeletal muscle atrophy Ataxia Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and EEG abnormality, related diseases and genetic alterations Cryptorchidism and Jaundice, related diseases and genetic alterations Cleft palate and Delayed puberty, related diseases and genetic alterations Hypertelorism and Thin skin, related diseases and genetic alterations Sensorineural hearing impairment and Split hand, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more