ORPHA:124

Diamond-Blackfan anemia

Synonyms: DBA · Congenital PRCA · Congenital pure red cell aplasia · Diamond-Blackfan anemia syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Childhood, Infancy, Neonatal
Status: active

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

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Diamond-Blackfan anemia	DBA · Congenital PRCA · Congenital pure red cell aplasia · Diamond-Blackfan anemia syndrome
fr	Anémie de Blackfan-Diamond	ABD · Anémie aplasique pure congénitale · Anémie de Diamond-Blackfan · Erythroblastopénie congénitale · Maladie de Blackfan-Diamond
de	Diamond-Blackfan-Anämie	DBA · Diamond-Blackfan-Anämie-Syndrom · Kongenitale PRCA · Kongenitale reine Erythrozytenaplasie
es	Anemia de Diamond-Blackfan	APCR congénita · Aplasia pura de células rojas congénita · Síndrome de anemia de Diamond-Blackfan · ADB
it	Anemia di Diamond-Blackfan	Aplasia eritrocitaria pura congenita · PRCA congenita · Sindrome anemia di Diamond-Blackfan · DBA
nl	Diamond-Blackfan-anemie	Congenitale PRCA · Congenitale rodebloedcelaplasie · Congenitale zuivere erytrocytaire aplasie · Syndroom van Diamond-Blackfan-anemie · DBA
pt	Anemia Diamond-Blackfan	PRCA congénita · Síndrome de anemia de Diamond-Blackfan · Aplasia congénita pura de células vermelhas
pl	Niedokrwistość Blackfana i Diamonda	Wrodzona aplazja czystoczerwonokrwinkowa · Wrodzona niedokrwistość hipoplastyczna typu Blackfana i Diamonda · Wrodzony PRCA · Zespół Aase · Zespół Aase i Smitha II · Anemia Diamonda-Blackfana
cs	Blackfanova-Diamondova anémie	Vrozená PRCA · Vrozená hypoplastická anémie Diamondova-Blackfanova · Aaseův syndrom · Aaseho-Smithův syndrom II · Čistá aplázie červené řady · Blackfan-Diamondova anémie · Aase-Smithův syndrom II · Vrozená hypoplastická anémie Diamond-Blackfanova
uk	Анемія Даймонда-Блекфана	Вроджений PRCA · Вроджена чиста еритроцитарна аплазія · Синдром анемії Даймонда-Блекфана
zh	Diamond-Blackfan贫血	先天性再生不良性贫血，Blackfan-Diamond型
tr	Blackfan-Diamond anemisi	Aase sendromu · Doğumsal PRCA · Aase-Smith II sendromu · Diamond-Blackfan anemisi · Doğumsal saf kırmızı hücre aplazisi · Doğumsal hipoplastik anemi, Blackfan-Diamond tipi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	105650	E		validated
OMIM	300946	BTNT		validated
OMIM	606129	BTNT		validated
OMIM	606164	BTNT		validated
OMIM	610629	BTNT		validated
OMIM	612527	BTNT		validated
OMIM	612528	BTNT		validated
OMIM	612561	BTNT		validated
OMIM	612562	BTNT		validated
OMIM	612563	BTNT		validated
OMIM	613308	BTNT		validated
OMIM	613309	BTNT		validated
OMIM	614900	BTNT		validated
OMIM	615550	BTNT		validated
OMIM	615909	BTNT		validated
OMIM	617408	BTNT		validated
OMIM	617409	BTNT		validated
OMIM	618310	BTNT		validated
OMIM	618312	BTNT		validated
OMIM	618313	BTNT		validated
OMIM	620072	BTNT		validated
ICD-10	D61.0	NTBT	inclusion	validated
ICD-11	3A60.1	NTBT	index	validated
MONDO	0015253	E		validated
MeSH	D029503	E		validated
UMLS	C0265265	E		validated
GARD	6274	E		validated
MedDRA	10062989	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (5):

ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases
ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

26 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RPL27	Candidate gene tested in	Not yet assessed	HGNC:10328	ENSG00000131469	607526	17q21.31	ribosomal protein L27	25424902[PMID]
RPL31	Candidate gene tested in	Not yet assessed	HGNC:10334	ENSG00000071082	617415	2q11.2	ribosomal protein L31	25042156[PMID]
RPS27	Candidate gene tested in	Not yet assessed	HGNC:10416	ENSG00000177954	603702	1q21.3	ribosomal protein S27	25424902[PMID]
GATA1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4170	ENSG00000102145	305371	Xp11.23	GATA binding protein 1	24952648[PMID]_22706301[PMID]
RPL8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10368	ENSG00000161016	604177	8q24.3	ribosomal protein L8	34961992[PMID]
RPS15A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10389	ENSG00000134419	603674	16p12.3	ribosomal protein S15a	27909223[PMID]
RPS28	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10418	ENSG00000233927	603685	19p13.2	ribosomal protein S28	24942156[PMID]
RPS29	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10419	ENSG00000213741	603633	14q21.3	ribosomal protein S29	24829207[PMID]
TSR2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25455	ENSG00000158526	300945	Xp11.22	TSR2 ribosome maturation factor	24942156[PMID]
ADA2	Disease-causing germline mutation(s) in	Assessed	HGNC:1839	ENSG00000093072	607575	22q11.1	adenosine deaminase 2	30503522[PMID]
HEATR3	Disease-causing germline mutation(s) in	Assessed	HGNC:26087	ENSG00000155393	614951	16q12.1	HEAT repeat containing 3	35213692[PMID]
RPL11	Disease-causing germline mutation(s) in	Assessed	HGNC:10301	ENSG00000142676	604175	1p36.11	ribosomal protein L11	20301769[PMID]
RPL15	Disease-causing germline mutation(s) in	Assessed	HGNC:10306	ENSG00000174748	604174	3p24.2	ribosomal protein L15	20301769[PMID]_23812780[PMID]
RPL18	Disease-causing germline mutation(s) in	Assessed	HGNC:10310	ENSG00000063177	604179	19q13.33	ribosomal protein L18	28280134[PMID]
RPL26	Disease-causing germline mutation(s) in	Assessed	HGNC:10327	ENSG00000161970	603704	17p13.1	ribosomal protein L26	20301769[PMID]_22431104[PMID]
RPL35	Disease-causing germline mutation(s) in	Assessed	HGNC:10344	ENSG00000136942	618315	9q33.3	ribosomal protein L35	28280134[PMID]
RPL35A	Disease-causing germline mutation(s) in	Assessed	HGNC:10345	ENSG00000182899	180468	3q29	ribosomal protein L35a	20301769[PMID]
RPL5	Disease-causing germline mutation(s) in	Assessed	HGNC:10360	ENSG00000122406	603634	1p22.1	ribosomal protein L5	20301769[PMID]
RPL9	Disease-causing germline mutation(s) in	Assessed	HGNC:10369	ENSG00000163682	603686	4p14	ribosomal protein L9	31799629[PMID]
RPS10	Disease-causing germline mutation(s) in	Assessed	HGNC:10383	ENSG00000124614	603632	6p21.31	ribosomal protein S10	20301769[PMID]
RPS17	Disease-causing germline mutation(s) in	Assessed	HGNC:10397	ENSG00000182774	180472	15q25.2	ribosomal protein S17	20301769[PMID]
RPS19	Disease-causing germline mutation(s) in	Assessed	HGNC:10402	ENSG00000105372	603474	19q13.2	ribosomal protein S19	20301769[PMID]
RPS20	Disease-causing germline mutation(s) in	Assessed	HGNC:10405	ENSG00000008988	603682	8q12.1	ribosomal protein S20	32790018[PMID]
RPS24	Disease-causing germline mutation(s) in	Assessed	HGNC:10411	ENSG00000138326	602412	10q22.3	ribosomal protein S24	20301769[PMID]
RPS26	Disease-causing germline mutation(s) in	Assessed	HGNC:10414	ENSG00000197728	603701	12q13.2	ribosomal protein S26	20301769[PMID]
RPS7	Disease-causing germline mutation(s) in	Assessed	HGNC:10440	ENSG00000171863	603658	2p25.3	ribosomal protein S7	20301769[PMID]

Prevalence and incidence

6 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 1 000 000	0.67 / 100 000	Europe	Value and class	Validated	20824457[PMID]_[EXPERT]
Prevalence at birth	1-9 / 1 000 000	0.5 / 100 000	United Kingdom	Value and class	Validated	8826887[PMID]
Prevalence at birth	1-9 / 1 000 000	0.65 / 100 000	Italy	Value and class	Validated	10192448[PMID]
Prevalence at birth	1-9 / 1 000 000	0.75 / 100 000	United States	Value and class	Validated	18671700[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET
Point prevalence	1-9 / 1 000 000	0.194 / 100 000	China	Value and class	Validated	34103049[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

59 annotations · validated 2020-03-25

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0030270	Elevated red cell adenosine deaminase activity
HP:0012410	Pure red cell aplasia
Frequent (79-30%)
HP:0000234	Abnormality of the head
HP:0012133	Erythroid hypoplasia
HP:0001510	Growth delay
HP:0005518	Increased mean corpuscular volume
HP:0001254	Lethargy
HP:0005532	Macrocytic dyserythropoietic anemia
HP:0000980	Pallor
HP:0011904	Persistence of hemoglobin F
HP:0001896	Reticulocytopenia
HP:0001518	Small for gestational age
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0000119	Abnormality of the genitourinary system
HP:0001227	Abnormality of the thenar eminence
HP:0002817	Abnormality of the upper limb
HP:0009777	Absent thumb
HP:0001631	Atrial septal defect
HP:0410030	Cleft lip
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000085	Horseshoe kidney
HP:0000047	Hypospadias
HP:0001882	Leukopenia
HP:0002863	Myelodysplasia
HP:0012758	Neurodevelopmental delay
HP:0001895	Normochromic anemia
HP:0009944	Partial duplication of thumb phalanx
HP:0020118	Radial artery aplasia
HP:0000104	Renal agenesis
HP:0000470	Short neck
HP:0004322	Short stature
HP:0009778	Short thumb
HP:0000912	Sprengel anomaly
HP:0001199	Triphalangeal thumb
HP:0001629	Ventricular septal defect
HP:0000465	Webbed neck
Very rare (<4-1%)
HP:0004808	Acute myeloid leukemia
HP:0040276	Adenocarcinoma of the colon
HP:0001680	Coarctation of aorta
HP:0001875	Decreased total neutrophil count
HP:0005280	Depressed nasal bridge
HP:0000519	Developmental cataract
HP:0001087	Developmental glaucoma
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000294	Low anterior hairline
HP:0000369	Low-set ears
HP:0006758	Malignant genitourinary tract tumor
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0008551	Microtia
HP:0001790	Nonimmune hydrops fetalis
HP:0002669	Osteosarcoma
HP:0000508	Ptosis
HP:0000486	Strabismus
HP:0001873	Thrombocytopenia
HP:0001894	Thrombocytosis
HP:0000431	Wide nasal bridge

Run the differential on the 2 obligate / very frequent terms

Annotation source: 20301769[PMID]_30228860[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/124
This record as JSON: /data/d/124.json