Rare constitutional aplastic anemia

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Rare constitutional aplastic anemia

ORPHA:68383Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ACDADA2BRCA1BRCA2BRIP1CTC1DKC1DNAJC21DUTEFL1ERCC4ERCC6L2FAAP100FANCAFANCBFANCCFANCD2FANCEFANCFFANCGFANCIFANCLFANCMGATA1HEATR3MAD2L2NHP2NOP10NPM1PALB2PARNRAD51RAD51CRFWD3RPL11RPL15RPL18RPL26RPL27RPL31RPL35RPL35ARPL5RPL8RPL9RPS10RPS15ARPS17RPS19RPS20RPS24RPS26RPS27RPS28RPS29RPS7RTEL1SBDSSLX4SRP72TERCTERTTINF2TP53TSR2TYMSUBE2TUSB1WRAP53XRCC2

Orphanet records these genes on 10 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

D61.0filed under a broader ICD-10 category — shared with 10 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 1713UMLS C5681331

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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