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Blackfan-Diamond anemia
13 OMIM references -
11 associated genes
139 connected diseases
20 signs/symptoms
Disease Type of connection
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Fibronectin glomerulopathy
Adrenocortical carcinoma
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Estrogen resistance syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Pseudohypoaldosteronism type 2E
Common variable immunodeficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hypotrichosis simplex
Familial isolated congenital asplenia
Spinocerebellar ataxia type 36
Amyotrophic lateral sclerosis
Cornelia de Lange syndrome
Frontotemporal dementia with motor neuron disease
Precursor T-cell acute lymphoblastic leukemia
Cabezas syndrome
Chronic mucocutaneous candidiasis
Chuvash erythrocytosis
Von Hippel-Lindau disease
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Spinocerebellar ataxia type 26
Young adult-onset Parkinsonism
Familial congenital mirror movements
Proximal myotonic myopathy
Richieri Costa-Pereira syndrome
Familial melanoma
Combined immunodeficiency due to STK4 deficiency
Combined oxidative phosphorylation defect type 4
Mosaic variegated aneuploidy syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Pyogenic arthritis - pyoderma gangrenosum - acne
Acute promyelocytic leukemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Papillary or follicular thyroid carcinoma
Pediatric systemic lupus erythematosus
Pontocerebellar hypoplasia type 1
Omenn syndrome
ANE syndrome
Familial isolated dilated cardiomyopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Retinitis pigmentosa
Charcot-Marie-Tooth disease type 4D
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Burkitt lymphoma
Herpetic encephalitis
Thrombocytopenia - absent radius
Usher syndrome type 3
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Alternating hemiplegia of childhood
Autoimmune lymphoproliferative syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant hyper-IgE syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive systemic lupus erythematosus
Benign paroxysmal torticollis of infancy
Classical phenylketonuria
Craniometaphyseal dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Growth delay due to insulin-like growth factor I resistance
Hypoplastic left heart syndrome
ICF syndrome
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Juvenile myelomonocytic leukemia
LIG4 syndrome
Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild phenylketonuria
Muscle filaminopathy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Opsismodysplasia
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Short stature due to growth hormone qualitative anomaly
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 6
Steinert myotonic dystrophy
Syndactyly type 3
Tetrahydrobiopterin-responsive hyperphenylalaninemia / phenylketonuria
Dehydratase deficiency
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Berardinelli-Seip congenital lipodystrophy
Carney complex
Cerebro-facio-thoracic dysplasia
Constitutional mismatch repair deficiency syndrome
D,L-2-hydroxyglutaric aciduria
Familial atrial myxoma
Familial thoracic aortic aneurysm and aortic dissection
GCS1-CDG
Hereditary nonpolyposis colon cancer
Hirschsprung disease
Immunodeficiency by defective expression of HLA class 2
Lissencephaly due to TUBA1A mutation
Moyamoya disease
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Primary pigmented nodular adrenocortical disease
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
STT3B-CDG
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
TMEM165-CDG
Williams syndrome
Synonym(s):
- Aase syndrome
- Aase-Smith II syndrome
- Congenital PRCA
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital pure red cell aplasia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
13 OMIM references -
1 MeSH reference: D029503
Very frequent
- Anaemia
- Cardiac rhythm disorder / arrhythmia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Pallor

Frequent
- Anomalies of hands
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Facial pain / cephalalgia / migraine
- Late puberty / hypogonadism / hypogenitalism
- Macrocytic anemia
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract

Occasional
- Acute leukemia
- Autosomal recessive inheritance
- Flattened nose
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Short / small nose
- Thick lips